ACNE

Acne is an inflammatory skin condition, commonly affecting the face, chest and back. It is one of the most common skin conditions, affecting up to 80-90% of adolescents. Acne may also occur during infancy due to the activation of sebaceous glands by maternal hormones in-utero. It can be a persistent problem, although it spontaneously resolves after a period of 4-5 years in about 70% of people. Approximately 30% of people continue with their acne into adult life. The incidence of acne at the age of 40 is reported to be 1% in men and 5% in women.

Causes

Acne is caused by the overactivity of the sebaceous (oil) glands. Sebaceous glands are active due to the hormone testosterone. Testosterone is produced in men from the testes and in women from the ovaries and the adrenal gland. Although testosterone levels are usually normal in people who develop acne, the sebaceous glands are overly sensitive to the hormone. Over production of oil leads to a greasy feel to the skin. In addition, there is a change in the growth of the cells lining the follicular canal (pore). Instead of dislodging normally and being carried away by the oil (sebum) when they die, these cells become sticky and stick to the inner surface of the gland and gradually build up a partial blockage.

Symptoms

The partial blockage of the pore is called a microcomedone and is the starting point of all inflammatory and non-inflammatory spots in acne. Bacteria start to multiply within the blockage, which leads to inflammatory lesions or red papules. As part of the healing process, the body recruits white blood cells which destroy the bacteria but lead to the formation of pus. In some cases the blocked pores remain full of this solidified pus and may never become inflamed, these are known as the blackheads and whiteheads. Some people may go on to develop painful swollen cysts which need urgent treatment as they are more likely to lead to scarring. There are many myths surrounding the causes of acne, which include:

• only teenage spots - you'll grow out of it.

• eating too much chocolate and too many chips.

• not keeping your skin clean enough.

Acne can be a devastating psychological disease commonly affecting the face, neck, chest, shoulders and back. The latest survey by the Acne Support Group shows that 12% of people with acne feel suicidal as a result of having the condition. Whilst it is a very common skin condition, it need not be left untreated and leave a person feeling so desperate that they want to take their own life.

Treatments

There are many treatments available, which need to be given at an early stage to prevent scarring. Treatments are generally longterm, however with encouragement and support a person can improve their skin substantially.

First line treatment for acne includes creams or gels containing the active ingredients benzoyl peroxide, nicotinamide or salicylic acid, all of which are available from chemists. Topical retinoid treatments can be particularly effective at reducing comedonal (blackhead) type acne. Antibiotics are a very popular treatment for acne as they target the inflammation associated with acne. They can be taken in tablet form, or used topically. Some topical antibiotic treatments are combined with other anti-acne ingredients such as zinc, benzoyl peroxide or retinoids. Other treatments include preparations containing the hormone therapy cyproterone acetate (females only).

For those who have not responded to systemic and topical therapies, isotretinoin, which is a synthetic vitamin A, can be very useful. This is a hospital-only drug and can achieve up to 95% positive results in patients. There are many potential side effects from this drug and hence the patient will need monitoring by their dermatologist.

Generally, treatments need to be taken for two months before any improvement is noticed and used ongoing if necessary. The aim of treating acne successfully is to stop new spots forming and avoid scarring which can be difficult to treat.

For further information contact:
Acne Support Group,
PO Box 9, Newquay TR9 6WG
Reg. Charity No. 1026654.

Tel: 0870 870 2263
Email: alison.dudley@btopenworld.com
Website: www.stopspots.org

The Acne Support Group provides information and support to those people affected by acne and those people affected by rosacea. Information and services available to members include:

• a comprehensive information pack.
• confidential advice.
• a lively and informative newsletter.

ALOPECIA

Alopecia is a generic medical term for all forms of hair loss, from the patchy baldness of alopecia areata, which in some cases becomes total loss, to the diffuse thinning and ‘male pattern baldness’ of alopecia androgenetica. Hair loss can be sudden, frightening and severe. Although it is not life threatening or even physically painful, alopecia causes a high level of psychological and emotional suffering. A survey by Hairline International of women who had lost, or were losing, their hair found that 76% felt less of a woman; 40% said that marriages (or long term partnerships) had suffered and of these many had broken up; and 63% said they had been forced to compromise a career. In many cases, alopecia patients experience severe depression. A large proportion of the respondents (43%) had considered suicide. In addition, patients often face cruel jokes from others and find that some healthprofessionals dismiss the condition as superficial.

Types and Symptoms
Alopecia areata (patchy baldness) affects men, women and children. It often begins at puberty. This scalp disease usually starts with a tiny circumscribed patch of baldness. Other patches may follow and as one patch re-grows hair frequently falls out in another. Alopecia areata frequently spreads very quickly, sometimes throughout the scalp. The affected hair follicles slow down production, become very small and often grow no hair that is visible above the surface for months or years. But the follicles normally remain alive and are ready to resume normal hair production whenever they receive the appropriate signal or ‘trigger’. In a third of all cases patients will have only one small patch of baldness. The hair re-grows spontaneously and they never suffer a further episode. Two thirds of patients suffer the patchy baldness of alopecia areata throughout their lives.

Alopecia areata can develop into total loss of scalp hair (alopecia totalis) or the loss of all body hair including the scalp - alopecia universalis - which occurs in about one fifth of cases.

Alopecia androgenetica (male pattern baldness) - a large number of women suffer from thinning hair. In a woman this can be the female version of alopecia androgenetica, the natural balding of ageing. It often occurs after the menopause, but is also prevalent in younger women who are genetically predisposed to the condition. It can manifest itself when triggered by such factors as eating disorders or an over-sensitivity to the progestogens contained in some types of contraceptive pill.

Male pattern baldness often causes a great deal of distress, particularly in men whose work brings them into contact with the public. It can cause a marked fall in self-esteem.

Telogen effluvium - the ‘human moult’ hair loss occurs after the body has suffered severe trauma. It can occur after a high fever, childbirth or extreme shock.

Hair loss related to medication -Some drugs prescribed for other conditions can cause hair thinning. Including some psychiatric drugs (eg. anti-depressants) and chemotherapy treatment.

Self-inflicted hair loss -Trichotillomania is an obsessional compulsive disorder in which many patients pull out their own hair.

Causes
Alopecia areata is believed to be an autoimmune disease in which the body rejects the hair follicle as foreign. Atopic syndrome often plays a part and alopecia areata frequently occurs in patients who have experienced asthma or eczema from birth. Other factors, which can be involved in its onset, are thyroid conditions, anaemia, vaccinations and stress. It can also be a family problem. One in five patients can recall a relative with a similar condition.

Many younger women develop alopecia androgenetica, because they have an over-sensitivity to the androgens (male hormones) in the blood. When they have this pre-disposed sensitivity, contraceptive pills containing progestogen can exacerbate the problem. Hormone replacement therapy (HRT) has similar components to the pill and many women find that their hair becomes thinner during this treatment. The stress of modern life is a common causative agent.

Treatments
Re-growth success is not always easy to achieve and doctors are cautious of raising false hope by offering treatment. For alopecia areata, and its related conditions, re-growth success has been achieved by the use of a combination therapy consisting of topical steroid creams plus topical minoxidil, systemic steroids (such as prednisolone) and, occasionally, zinc. The administration of powerful steroids can sometimes be enough to 'kick-start' the hair into re-growth, although doctors urge caution and careful monitoring for side-effects. In severe cases and those of total loss, the phenol derivative diphencyprone can be successful. In less severe cases of both Alopecia Androgenetica and Alopecia Areata, topical minoxidil alone can promote re-growth. Anti-androgen drugs such as cyproterone acetate can also help in alopecia androgenetica. Finasteride, the drug for the treatment of enlarged male prostate, has recently been licensed for the treatment of hair loss in men.

For further information contact:

Alopecia Awareness

13 Crun Melyn Parc

Hayle

Cornwall TR27 4RH

Contact: Wendy Woodrow

Tel: 07834 958578

Email: wendy.woodrow@btinternet.com

and

162 Manor View

Par

Cornwall PL24 2EN

Contact: Leanne Flavell

Tel: 07854 779026

Email: leanne.flavell@btinternet.com

Website: www.alopecia-awareness.org.uk

For all correspondence please send an A4 sae.

Alopecia Awareness is tailored to meet the needs of anyone connected with hair loss through help and support and up-to-date information and advice. We look to provide coping techniques, achievable solutions to promote positive well-being and educate people on how to get on with their lives. We will campaign to raise awareness and raise money for research into the causes and possible treatments. Individuals can also learn through other people’s experiences via our newsletter. We offer confidential advice and a comprehensive information pack.

Also,

Alopecia UK

5 Titchwell Road

London SW18 3LW

(Reg. Charity No. 1111304)

Tel 0208 333 1661

Website: www.alopeciaonline.org.uk

Email: Info@alopeciaonline.org.uk

Alopecia UK is a registered charity that supports people living with alopecia areata by providing information, advice and support. It also works to raise public awareness and understanding of alopecia areata throughout the UK and supports and funds research.

Also,

Hairline International

The Alopecia Patients’ Society

Lyons Court, 1668 High Street, Knowle

West Midlands B93 OLY

The Hair Trust Reg. Charity No. 1056204

Tel: 01564 775281

Fax: 01564 782270

For information on membership please enclose an A4 SAE

Website: www.hairlineinternational.co.uk

Hairline International is a national support network for those who have lost, or are losing, their hair and supports all alopecia patients whatever their type of hair loss. The organisation:

• maintains a network of contacts to share experiences.
• advises on suitable prostheses and available experts.
• campaigns to raise public awareness.
• gives an individual assessment to each new member.

ANGIOKERATOMA (NEW ENTRY)

Angiokeratomas are red to blue-black benign skin lesion. They are characterized by the presence of dilated blood vessels in the upper dermis, and thickening of the overlying epidermis of the skin (acanthosis and hyperkeratosis). They can be classified into different categories depending on their number, distribution and cause. Solitary angiokeratoma, angiokeratoma of Mibelli (affecting the hand or foot), angiokeratoma of Fordyce(affecting the scrotum) and angiokeratoma circumscriptum (affecting the extremities or trunk) are localized to particular regions of the body. In contrast, diffuse angiokeratomas, which can occur all over the body are usually, but not always, associated with metabolic disorders, most commonly Fabry disease. They may also be seen in fucosidosis and galactosialidosis.

Causes

The causes of angiokeratomas are varied and not always clearly understood. Solitary angiokeratomas most commonly result from acute trauma or chronic irritation. Mibelli’s angiokeratoma is usually associated with acrocyanosis (cold and moist extremities) and may rarely be inherited. Fordyce’s angiokeratoma may be a result of an increase in pressure followed by reactive dilation in the veins of the scrotum. Angiokeratoma circumscriptum is fully developed at birth and is a type of birthmark, the cause is not fully understood.

Diffuse angiokeratomas are most commonly associated with Fabry disease. This is a rare X-linked lysosomal storage disorder caused by a genetic defect in the enzyme α-galactosidase A. The mutation in the gene encoding α-galactosidase A in patients with Fabry disease results in accumulation of the glycosphingolipid globotriaosylceramide (Gb3) in lysosomes throughout the body, leading to progressive organ damage and premature death. The average life-span in affected men and women is reduced by some 20 and 15 years, respectively, mainly because of renal failure, stroke and heart disease. The cause of angiokeratomas associated with this debilitating disorder is not known. It has been suggested that vascular endothelial cells in blood vessel walls are damaged as a result of Gb3 accumulation within them. It seems increasingly likely that cell metabolism is disturbed either by the enzyme (alpha galactosidase) deficiency itself or by the accumulation of Gb3.

Types and symptoms

While most localized angiokeratomas (with the exception of angiokeratoma circumscriptum) appear during or after puberty. The diffuse angiokeratomas associated with Fabry disease may first appear in early childhood (between 5 & 10 years) in both boys and girls and may increase in number with age. Interestingly, the mean age of onset of angiokeratomas is 19 years in men and 28 years in women. They develop as small (up to 4 mm in diameter) dark-red macules and papules that may gradually become thicker (hyperkeratotic). Although they may occur singly and discretely, clusters are more often found. Some individuals may have no or very few angiokeratomas, while in others the lesions may cover a large area of the body. They most commonly occur in the ‘bathing trunk’ area, incorporating the thighs, buttocks, groins and lower abdomen. In many cases the lesions resemble angiomas (swellings due to proliferation of blood vessels) and exhibit little or no hyperkeratosis.

Other symptoms of Fabry disease that may be seen by a dermatologist include:

• telangiectases (lesions formed by dilation of a small or terminal capillary) of the lips, oral mucosa, palms and soles. These may appear early in the course of the disease, and are often mistaken for the lesions of hereditary haemorrhagic telangiectasia
• hypohidrosis (reduced ability to sweat) or even anhidrosis (absence of ability to sweat), due to accumulation of Gb3 in sweat glands
•  in rare cases, hyperhidrosis (excessive sweating). This is commoner in women.

These symptoms may be accompanied by:

• acroparaesthesia (burning pain in the extremities) – a common symptom in children 
• gastrointestinal symptoms, such as pain, bloating and diarrhoea.

Treatment

The rarity and multisystemic nature of Fabry disease mean that patients are frequently not diagnosed and may receive inappropriate treatment, often for many years. Angiokeratomas are usually painless and do not cause itching, although bleeding may occur.  Angiokeratomas can be removed using laser therapy, in the absence of anaesthesia, although recurrence is possible. In the event of intense hyperkeratosis, an ablative laser (e.g., an ultra-pulsed CO2 laser) is recommended, followed by a vascular laser that targets the haemoglobin.

Other treatments specific for angiokeratomas include fine-needle electrocautery or surgical removal. Both of these methods require local anaesthesia.

Specific treatment for Fabry disease is now available and, if started early enough, may prevent the progressive deterioration in vital organ function.

Angiokeratomas are not unique to Fabry disease. Nevertheless, as angiokeratomas are one of the commonest and earliest manifestations of this disorder, dermatologists have a key role in referring individuals suspected of having the disease to one of the six specialist centres in the UK that have experience in diagnosing and treating lysosomal storage disorders.

Adapted from an original article in Skin Care Campaign News by Dr Cate Orteu, Department of Dermatology, Royal Free Hospital, London. Dr Orteu contributes to the multidisciplinary Lysosomal Storage Disorder team headed by Dr Atul Mehta at the Royal Free Hospital.

For further information contact:

The Society for Mucopolysaccharide and Related Diseases

MPS House, Repton Place,

White Lion Road,

Amersham, Bucks HP7 9LP.

Reg. Charity No. 287034

Tel: 0845 389 9901;

e-mail: mps@mpssociety.co.uk ; website www.mpssociety.co.uk

BIRTHMARKS (NEW ENTRY)

There is a wide variety of birthmarks but the most commonly occurring are either red, vascular  haemangiomas and port wine stains or brown, congenital melanocytic naevi (CMNs).

Haemangiomas are dynamic, proliferative and endothelial anomalies with their hallmark being rapid growth. They are not usually present at birth but  can appear within the first few weeks thereafter. Most haemangiomas do not need treatment and will disappear by school age, however, a few will cause problems such as bleeding, ulceration, deformation and disfigurement. For rapidly proliferating lesions that are at a site which will cause a problem (such as near the eye, nose, mouth or in the nappy area) early treatment with compression dressing, oral or intra-lesional steroids, alpha-interferon and laser therapy should be considered. Occasionally, combination therapy should be instituted.

Capillary Haemangiomas

The most common is the strawberry naevus with an incidence of 1:20 babies. Over 80% of these will regress spontaneously by the age of 7 years

Cavernous Haemangiomas

These are deep and bluish in colour. They are composed of possibly larger venules which are clustered together and located deeper into the skin and, hence, the blue colouration. Almost all will resolve naturally.

Mixed Haemangiomas

In these lesions there is a combination of superficial (red) and deep (bluish) vascular components. Most will disappear completely with time and no treatment is required.

Neonatal Haemangiomatosis

This is a rare condition which can be life-threatening. There are many miliary blood-filled circular individual lesions not only in the skin but also internally. Within the first 4 weeks of life the baby may present with congestive cardiac failure, liver failure and may succumb to multi-system organ failure. Steroids should be started following the diagnosis of internal lesions and age of the patient. Alpha-interferon may also be considered as part of the treatment regime.

Lymphangio-Haemangiomas

These are a mixture of lymphatic and blood vessel abnormalities all amalgamated together . They create difficult management problems because of the nature of the abnormalities involved.

Verrucous Haemangiomas

These are uncommon congenital haemangiomas present from birth where there is unilateral hyperkeratotic lesions mostly seen on the lower extremities. Clinically, they are warty, crusty and dry dark lesions; with age they can bleed and cause difficult management problems.

Pulse dye laser therapy may stop the bleeding, flatten the lesion, reduce hyperkeratosis and may lessen the pain and discomfort.

Multiple Haemangiomas

These are individual separate cutaneous capillary haemangiomas scattered all over the body. They sprout out at different stages in the first few weeks of life.  Usually they do not cause any problems unless internal lesions are also present. Babies should be investigated at an early stage with an abdominal ultra-sound scan, a cranial CT scan and echo-cardiogram, if appropriate, to look for internal manifestations.  In blue rubber bleb naevus syndrome there is angiomatosis characterized by numerous cavernous like haemangiomas that involve the skin, mucous membrane and other parts of the body like gastrointestinal tract, lips, oral cavity, glans penis, nasopharynx and, rarely, brain meninges and heart.

Haemangiomas associated with major blood vessel abnormalities

Capillary haemangiomas on the head and neck may have associated cardiovascular abnormalities, e.g.  coarctation of aorta, or they may present with subglottic haemangiomas; they should be investigated to exclude cardiovascular and subglottic involvement.

Port Wine Stains

This most common vascular malformation consists of dysplastic, ectatic vessels which persist throughout life; there is an incidence of 3:1000 births.  It is also known as naevus flammus and is defined as a vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries and clinically by permanent macular erythema. It is present from birth and is often present on the face. This type of birthmark becomes darker, thickens with age and forms progressive nodularity and blebbing, often resulting in major disfigurement. Recent advances have shown that pulse dye laser therapy is the main stay of treatment.  Experience supports the view that younger children age 6 months – 4 years tend to have a better response to laser treatment than older children with the aim to complete treatment prior to starting main stream education so that psychological and social interactions are as normal as possible. Port wine stains can be associated with other medical problems such as glaucoma, Sturge-Weber syndrome, Klippel Trenaunay Weber syndrome, Proteus syndrome.

Congenital Melanocytic Naevus (CMN)

A CMN is composed of an abnormally large collection of melanocytes and is regarded as a type of benign tumour. Why such a collection develops is still unknown. There has been a general assumption that large CMN’s carry a 5-10% risk of malignancy, with the larger the CMN the greater the risk, but recent opinion puts this nearer to 2%.. CMN’s show a number of characteristics which vary considerably and which may change over a period of time. These include:  size (from a few millimetres to many centimetres across) ,site (most common is the head and neck, followed by the trunk, large CMNs may cover parts of the body in such a way as to resemble items of clothing), pigmentation, texture, hairiness, lumpiness.

 If a CMN is very close to the eye there is a small risk of glaucoma developing.

Treatment of CMNs depend upon size and may include:   excision (full-thickness removal), grafting, rotation flaps, tissue expansion, partial thickness removal.

Intracranial Melanosis is when there is an abnormal collection of melanocytes in the brain, which can cause convulsions or ataxia. These problems are almost always apparent in the first 2 years of life and can be investigated using MRI.

The Birthmark Support Group is a registered charity supporting those with birthmarks, and their families, and raising the awareness of birthmarks both amongst the public generally and the medical profession. It is also committed to promoting and supporting research into the cause and treatment of birthmarks.  It publishes regular newsletters, organises ‘Fun Days’ for members, and provides support through telephone helplines and email. It has separate sections for adults (‘FaceItTogether’) and teenagers (‘Teentalk’).

 For further information:

Website: www.birthmarksupportgroup.org.uk

Email: info@birthmarksupportgroup.org.uk 

BULLOUS PEMPHIGOID

Bullous pemphigoid is a rare, blistering skin disease which can occur anywhere on the skin, but is more commonly found on the folds of the skin, particularly the groin area and the armpits. The disease is more prevalent in the elderly, but an increasing number of people are being diagnosed when in their early fifties. The average age of onset for the disease is between 65 and 75. The condition affects males and females in equal proportion and is rarely life-threatening. In approximately 30% of people the condition burns itself out after a number of years, although a recurrence can occur in later life.

Causes
Bullous pemphigoid is an autoimmune disease, where an immune response is triggered to the body’s own skin cells. Separation occurs between the epithelial and dermal layers of the skin. The reason for this immune response remains the subject of research. The condition is not contagious and may not be passed on by skin contact.

Symptoms
During a flare-up a non-specific rash first develops on the folds of the limbs. The skin becomes inflamed (erythematous) and very itchy (pruritic). The patient reports feeling very tired and agitated. The disease is at times very debilitating and distressing, with simple tasks becoming a real effort to perform. The stress of the disease can exacerbate the condition. These changes can resemble other skin diseases, such as urticaria, erythema multiforme and dermatitis herpetiformis. Consequently GPs often do not recognise these signs as the early symptoms of bullous pemphigoid. Following this (prodromal) phase, fluid-filled blisters develop. A diagnosis of the condition is confirmed by examination of a blister by skin biopsy. The prodromal phase can last from a single week to several months. Although the condition sometimes remains localised, it is more common for dense bullae to progressively cover both inflamed and normal skin over the majority of the body area. The skin feels hot, itchy and very tender. The lesions, which can be several centimetres in diameter, are particularly concentrated in body folds. Lesions may also develop in the mouth and other mucosal membranes.

Treatments
When a widespread blistering flare-up occurs, the patient is usually admitted to hospital. As yet there is no cure for bullous pemphigoid, but the condition can be controlled using potent medications. Depending on the severity of the blistering and the patient’s general health, it can be treated very successfully using steroids and/or immunosuppressants. A large initial dosage of steroids is administered during a flare-up, in order to bring the blistering under control. These treatments can have harmful side effects, and over the subsequent weeks and months the dosage is gradually reduced until the lowest efficacious dose is attained which will control the condition. A low dosage of the drug treatment is administered for several months or years in order to maintain the condition. It is important to be aware of the risk of infection to the skin, especially when blisters are broken. An antibacterial ointment is routinely applied to the skin for this purpose. In between flares, although the majority of people experience no outward evidence of the disease, it is advisable to keep the skin well hydrated using emollients (creams, lotions and bath oils). Some people find bathing with a non-scented oil very soothing, whilst others have reported an intolerance to any bathing. Some people report adverse reactions to strong sunlight. Although exposure to ultraviolet (UV) light has not been proven to precipitate or to exacerbate the condition, exposing the skin to strong sunlight is inadvisable as the use of steroid creams will have thinned the skin, thereby increasing the risk of skin damage due to sun exposure.

For further information contact:
Bullous Pemphigoid Support Group

17 Barley Mount

Redhills

Exeter EX4 1RP

Tel: 01392 431362 (evenings) Best time to telephone: any reasonable time

The Bullous Pemphigoid Support Group aims to:

• offer support to people with bullous pemphigoid.
• establish commonality between experiences, in order to gain a greater understanding of the causes of the disease and treatment regimens.

DARIER'S DISEASE

This disease was first described in 1889 by Jean Darier, a French dermatologist. It is a rare condition characterised by itchy, warty bumps often involving the chest, neck and upper back. The condition can affect both men and women.

Symptoms
The first signs of the condition usually appear between the ages of 6 and 20, but may begin when people are older or, rarely, younger. The severity of the condition varies enormously and is unpredictable. Small brownish, rough topped bumps develop on the skin. Some patients have scattered spots which cause very little trouble, but in others the disease is more pronounced. The chest, neck or upper back are often involved at the beginning, but warty bumps may occur on any part of the body. It is unusual for people to have much trouble on the face, except for the skin on the forehead near the hairline. The scalp and skin around the ears may be scaly and itchy and most people notice some small spots in the armpits, the groin or, in women, under the breasts.

The fingernails are usually affected. They tend to be rather fragile, split easily and look as if they have been bitten or appear dirty. There may be very obvious long red or white lines running the length of the nails. Nail changes or flat warts on the backs of the hands are often present in childhood, before other symptoms appear. Pits or small corns occur on the palms of the hands and less often the soles of the feet. Occasionally there may be small spots inside the mouth, which give the roof of the mouth a rough feeling.

Although the condition is not infectious or contagious, people with Darier’s disease show an increased susceptibility to herpes simplex infections, which exacerbates the symptoms of the condition. Though the skin may be clean, affected areas may smell unpleasant, due to bacterial growth in the rash. The condition is aggravated in the summer months due to an inherent photosensitivity, and through stress.

Causes
It is a dominantly inherited condition. There is a 1-in-2 chance that each child of an affected parent will inherit the disease.

The condition is caused by a change (mutation) in a gene on chromosome 12. This gene makes a protein found within keratinocytes called SERCA2. The SERCA2 protein acts as a ‘calcium pump’.

Cells use calcium to produce signals that control the complicated ‘machinery’ inside the cell. In Darier’s disease we believe signalling is faulty in the skin because the calcium pumps do not work properly. This leads to breakdown in the normal bonding of skin cells. The skin becomes scaly, lumpy and may blister.

Treatments
Retinoids (Vitamin A derivatives) are taken orally and improve the overall condition of the skin, by reducing its lumpiness and scaling, in most patients. Care must be exercised when prescribing to sexually active women, as retinoids could damage an unborn child. Therefore retinoids are only prescribed to sexually active women who have been sterilised, or who are using an effective contraceptive. Retinoids also cause the drying of lips, eyes and nose and patients with mild forms of the disease often decide to live with the symptoms of the condition rather than these side effects.

Itching (pruritus) is very common. Emollients containing an anti-pruritic may relieve some of the irritation. More severe pruritus can be controlled with a corticosteroid cream, containing an antibiotic to prevent skin infection. As mentioned the affected skin may smell unpleasant, particularly in moist areas, due to a bacterial growth in the rash. This does not mean that the skin is dirty. Careful washing is important, and antiseptic solutions for the bath, as well as creams or antibiotics may help.

The condition can be exacerbated by heat, sweating and, wool or nylon clothing. Some patients find that sunlight causes the skin to flare up, whilst some women find the condition worsens around the time of their period.

In a quarter of patients the condition improves as they get older. Most people lead full and active lives, with less than a quarter needing time off work or school because of the condition.

For further information contact:

Darier’s Disease Support Group

(DARDIS)

29 St Anne’s Road

Hakin

Milford Haven

Pembrokeshire SA73 3LQ

Website: www.dariers.com

The Darier's Disease Support Group provides information and support to people with Darier's disease, with the motto:

• Do not give up hope.
• Awareness to others.
• Readiness to smile.
• A Definite goal.
• Isolation no longer.
• Speak and be heard.

ECTODERMAL DYSPLASIA

A Ectodermal Dysplasia (ED) is not a single disorder, but a group of closely related conditions of which more than 150 different syndromes have been identified. The Ectodermal Dysplasias (EDs) are genetic disorders affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ED can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body.

Causes The ectodermal dysplasias are caused by altered genes. The altered genes may be inherited or the normal genes may become defective (mutate) at the time of conception. The chances for parents to have affected children depend on the type of ED that exists in the family. It is important to remember that a person cannot chose or modify the genes that he or she has, and that events of pregnancy do not change the genes. Thus, parents who have a child with ED should not think that they did anything to cause the defective gene and should not blame themselves for its existence. The inheritance patterns are variable according to the specific type of ED. Patterns include spontaneous mutations, autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive. When questions of a diagnosis exist, the expertise of a geneticist or other doctor with experience with the EDs is strongly recommended. Genetic counselling is available for families.

Symptoms
Each syndrome usually involves a different combination of symptoms, which can range from mild to severe, such as: It is important to remember that not all individuals affected by the EDs will have physical features that fit the description of a specific syndrome.

• Absence or abnormality of hair growth
• Absence or malformation of some or all teeth
• Inability to perspire, which causes overheating
• Impairment or loss of hearing or vision
• Frequent infections due to immune system deficiencies or, in some cases, the inability of cracked or eroded skin to keep out disease-causing bacteria
• Absence or malformation of some fingers or toes
• Cleft lip and/or palate
• Irregular skin pigmentation.

• Cleft lip and/or palate
• Sensitivity to light
• Respiratory problems
• A lack of breast development
• A host of other challenges

It is important to remember that not all individuals affected by the EDs will have physical features that fit the description of a specific syndrome. There may be a great deal of variation in the physical appearance of the same type of ED from one affected person to the next. It is also conceivable for a person to have a type of ED that has not been described yet. Nonetheless, the EDs share certain features, an understanding of which makes it possible to appreciate the ramifications for most affected individuals and allows everyone involved to respond appropriately to the individual’s needs.

Treatments
Individuals affected by ED face a lifetime of special needs which may include:

• Dentures at a young age with frequent adjustments and replacements
• Special diets to meet dental/nutritional needs
• Air conditioned environments
• Wigs to conceal hair and scalp conditions
• Carrier identification testing
• Protective devices from direct sunlight
• Osseointegrated dental implants
• Respiratory therapies

For further information contact:

The Ectodermal Dysplasia Society

108 Charlton Lane

Cheltenham

Glos. GL53 9EA

Reg. Charity no. 1089135

Tel: 01242 261332

Email: diana@ectodermaldysplasia.org

Website: www.ectodermaldysplasia.org

Contact: Mrs. Diana Perry

The Ectodermal Dysplasia Society aims to:

• obtain answers from Medical professionals to members’ specific questions
• support families when they approach organisations such as Local Authorities, Social Services, etc., by putting together a personal report explaining very simply how ED affects them
• liaise with Head Teachers, Health Authorities and medical professionals
• help families get the right care for their child in schools, such as full or part time Carers, fans, air-conditioning, etc.
• help more families obtain Disability Living Allowance, Disability Carers Allowance, etc.
• support members in their fundraising
• put people in touch with each other if requested
• find pen pals for the younger members
• help families obtain information regarding ante-natal testing
• put the Society on the databases of Health Authorities, NHS Trusts, Health organisations, etc.

The Ectodermal Dysplasia Society has their own Medical Advisory Board consisting of 12 professionals from various clinical fields.



ECZEMA

The word eczema comes from the Greek and means ‘to boil over’. The main features of eczema are dry, itching, red and inflamed skin. The words eczema and dermatitis mean the same thing. Eczema affects about one in every ten people in the United Kingdom and can be mild, moderate or severe. Eczema can be a disruptive and distressing condition and can affect all areas of personal and family life.

Types, Symptoms and Causes

Atopic eczema. This is the most common type of eczema. It usually starts in babies and young children and is thought to affect up to one in every five children. The main features are itching, redness, and inflammation. Dry, scaling skin is often seen in the creases of legs, wrists and neck as well as on the face and forehead. If the skin is weeping and crusting the skin may be infected.

Atopic eczema is an inherited condition, linked to asthma and hayfever. It is thought that people with atopic conditions are sensitive to things found in their environment (allergens) which people that are not atopic find harmless. Allergens may affect the skin by direct contact, or by being breathed in or swallowed. Eczema is not contagious – it cannot be caught from someone else.

Many people have mild to moderate eczema, which can be successfully managed. However, some people do have severe eczema, which may sometimes need hospital treatment. Three quarters of children with atopic eczema grow out of it by the time they reach their teenage years.

Contact dermatitis. There are two types of contact dermatitis: allergic and irritant. Both types have similar symptoms, though the hands are most often affected. It is sometimes referred to as occupational dermatitis due to the impact it can have on a person’s occupation.

Allergic contact dermatitis. This tends to appear where the skin is in direct contact with something, for example, the earlobes in nickel allergy (if wearing earrings). It is caused when the immune system overreacts to a substance that would normally be considered harmless, and creates an allergic response. Common allergens include nickel, chromates, and fragrances. It can be a painful and disabling condition with skin which is often dry, red, split, cracked, weeping, fluid-filled and intensely itchy, sore and stinging. If the condition is related to the person’s work, a change of career is sometimes necessary. Jobs that are at high risk include hairdressing, catering, cleaning, construction, engineering, printing, health care, agriculture and horticulture.

Irritant contact dermatitis. This has virtually the same signs and symptoms as allergic contact dermatitis but is caused by repeated contact with an irritant substance such as diluted acids, diluted alkalis, solvents, soaps, detergents, metallic salts, cement, resins and cutting fluids. The most common occupations at risk of irritant contact dermatitis are those that involve wet work, for example, chefs, bakers, bartenders, caterers, cleaners, hairdressers, metal workers, surgical nurses, printers, solderers, fishermen and construction workers.

Seborrhoeic eczema. This can occur in adults, children and babies. In babies it is often associated with ‘cradle cap’. It usually starts on the scalp as dandruff that can progress to redness, irritation and scaling which can spread to the face and skin creases. It is a reaction to the increased production of pityrosporum ovale, a yeast that occurs normally on the skin in those areas which generally produce a lot of oil such as scalp, face and chest and back in men. Candida (which causes thrush) can also be found on the skin of people with seborrhoeic eczema and can make the condition worse.

Gravitational eczema. Also known as varicose or stasis eczema, this type appears on the lower legs and generally affects people in later life, particularly women. It is related to poor blood circulation and high blood pressure. Special care needs to be taken to make sure that legs are not knocked as the skin can become thin, fragile, shiny and flaky which can lead to leg ulcers.

Treatments

The main treatment for eczema is emollients (moisturisers) and an explanation of the condition and its treatments. Other treatments for mild to moderate eczema might include topical corticosteroids (applied to the skin), antibiotics, and bandaging. People with eczema might also be given advice on how to avoid allergens, the ‘triggers’ that make their eczema worse. Some people also find complementary medicines useful to treat their eczema.

Severe eczema might be treated with stronger topical corticosteroids, ultra-violet light therapy, drugs which suppress the immune system, such as ciclosporin, and oral steroids taken by mouth. New treatments, known as topical immunomodulators, such as tacrolimus and pimecrolimus, are now available for people with atopic eczema.

The term immunomodulator refers to a drug that is able to modulate or alter the immune system.  In the short term topical immunomodulators appear safe but their long term safety is not yet known.

For further information contact:

National Eczema Society

Hill House

Highgate Hill

London N19 5NA

Reg. Charity No. 1009671. A company limited by guarantee registered in England No. 2685083

Tel (office): 0207 281 3553   Fax: 0207 281 6395

Eczema Helpline: 0870 241 3604, email: helpline@eczema.org

Website: www.eczema.org

Health Professional Information Line: 0207 651 8230

Email professional@eczema.org

Professional members' website: www.eczemapro.org

The Society’s Eczema Schools' Pack aims to help teachers educate pupils about the condition using quizzes, discussion and real life accounts of living with the condition. With separate sections tailored for primary, junior and secondary pupils, the Pack is in lesson plan format. To order a free pack call 0870 240 7183.

The Society has also produced guidelines for setting up an eczema clinic. To order a free copy contact the Health Professional Information Line.

The National Eczema Society is dedicated to meeting the needs of people with eczema and their families by:

• providing support and information on the disease and its management
• producing publications on eczema and its management
• providing information for health care professionals and a professional membership scheme
• funding research into causes of and treatments for eczema.

EHLERS-DANLOS SYNDROME

Ehlers-Danlos Syndrome (EDS) is a group of heritable disorders of connective tissue, characterised by skin extensibility, joint hypermobility and tissue fragility. There are different types of EDS and these were re-classified in 1997 into six major types, classified according to their symptoms and signs with each type running true in a family. Thus an individual with one type will not have a child with a different type. EDS is known to affect both males and females of all races and ethnic backgrounds, with an estimated prevalence of 1 in 5000.

Causes
EDS is caused by a defect in the collagen (connective tissue), which is the main building block in the body. Collagen provides strength for the different parts of the body. Some types are firm to give support, others are elastic to allow movement and strength, and still others resemble glue which bind proteins together. Consequently, defects in collagen can produce many problems.

Symptoms
Diagnosis is based on the presenting symptoms and family history. Diagnosis can be delayed, or overlooked, in some cases as they do not fit conveniently into a specific type. A skin biopsy may be taken to study the connective tissue. Specific tests are available for certain types of EDS.

Relating to the skin
Hyperextensibility. Stretchy skin characterises all EDS except for the Vascular Type (type lV), which has noticeably translucent skin with visible veins. When the skin is over-stretched it still retains normal elastic recoil and snaps back once released. This is best tested at the neck, elbows or knees.

Fragility. Easy splitting of the skin is particularly common in Classical Type (Types l and ll). Gaping, ‘fish-mouth’ or ‘cigarette paper’ scars follow minimal trauma over sites of bony prominence and, areas prone to trauma such as the forehead, chin, elbows, knees and shins.

Epicanthic folds. These are additional symmetrical folds of skin at the inner aspects of the eyes producing apparent broadening of the nose.

Molluscoid pseudotumours. These are firm, fibrous lumps measuring up to 2-3 cm that develop over pressure points such as the elbows and knees.

Spheroids. Approximately one third of affected individuals describe small, firm nodules like ‘ball-bearings’ just beneath the skin (subcutis). These consist of fibrotic and calcified fat, which overlays bony areas such as the shins.

Piezogenic papules. These small, soft, skin-coloured lumps appear on the side of the heel when standing and disappear when the foot is elevated. Although usually symptom-less they can occasionally be painful.
Varicose veins. These are more common in many types of EDS.

Relating to the joints
Hypermobility is assessed using the Beighton scale. A score of 5/9 or higher defines hypermobility.

Dislocation and partial dislocation; this is common due to unstable joints.

Chronic joint and limb pain. Pain is common even when skeletal X-rays are normal.

Bruising and haematomas
Easy bruising, at sites of trauma, accompanies most forms of EDS. This implies increased fragility of blood capillaries and poor structural integrity of the skin. When bruising presents in a child it may be incorrectly attributed to non-accidental injury.

Mitral valve prolapse
This is quite common and should be diagnosed by echocardiography, CT scan or magnetic resonance imaging (MRI).

Less common features
Arterial/uterine/intestinal rupture due to tissue fragility. Hernias are also relatively common.
Scoliosis (curvature of the spine) may be present at birth or can develop in later life. Gum disease.
Gastrointestinal diverticulae.

Psychological
The main problem with having Ehlers-Danlos syndrome is that the person can look very fit and may often not be believed that they have joint pain and other symptoms. Diagnosis is often delayed and misdiagnosis is relatively common. Some forms of EDS may be misdiagnosed as child abuse/self-inflicted injury. Where there is severe skin involvement, scarring can be severe and the person needs to learn to cope with disfigurement.

Treatment
This depends on the presenting symptoms but simple precautionary measures will greatly lessen the chances of accidental trauma, scarring and bruising. It is important to carefully balance the advantages of less frequent injuries and the disadvantages of over-protection in a child. Simple measures like padding of the lower legs and elbows in children may reduce the number of injuries.

Surgery and stitching of skin injuries should be undertaken with great care as fragile tissues may tear. Stitches need to be left in longer than normal. Bracing and splinting may be used to support unstable joints. Orthopaedic surgery may be necessary but is not always successful. Physiotherapy and occupational therapy advice may be sought in order to strengthen muscles and to aid daily living.

The prognosis depends on the specific type of EDS. Life expectancy can be shortened in the Vascular Type (type lV) due to the rupture of vessels and organs. Pregnancy can be life threatening in the Classical and Vascular Types (types l,ll,lV).

For further information contact:

Ehlers-Danlos Support Group

PO Box 337

Aldershot

Hampshire

GU12 6WZ

Registered Charity No. 1014641

Tel: 01252 690940

Email: info@ehlers-danlos.org

Website: www.ehlers-danlos.org

EPIDERMOLYSIS BULLOSA

Epidermolysis bullosa is the name given to a group of genetically determined disorders, which are characterised by an excessive susceptibility of the skin and mucosae to separate from the underlying tissues following mechanical trauma. The individual diseases vary in their impact from relatively minor disability (e.g. limitation of walking distance because of blistering of the feet), to death in infancy. There are three broad categories of epidermolysis bullosa: epidermolysis bullosa simplex, dystrophic epidermolysis bullosa and junctional epidermolysis bullosa. Within each of these categories, there are several sub-types which are clinically, and probably genetically, distinct.

Types and Causes

EB Simplex - A group of inherited disorders characterised by mechanically induced blistering occurring within the epidermis itself, as a result of lysis of the basal keratinocytes (breakdown of epidermal skin cells). There are several established variants, of which the following are the most important:

• Weber-Cockayne type -epidermolysis bullosa localised to the hands and feet.
• Koebner type - generalised epidermolysis bullosa simplex.
• Dowling-Meara type - epidermolysis bullosa simplex herpetiformis.
• EB Simplex with muscular dystrophy.

In addition, there are a number of rarer variants which are encountered from time to time. The prevalence of the different forms of epidermolysis bullosa simplex can only be estimated. Weber-Cockayne type is probably 10-20 cases per million population, Koebner is rarer, possibly about 2 cases per million and Dowling-Meara appears to be in the region of 5-10 cases per million. Almost all forms of epidermolysis bullosa simplex are inherited as autosomal dominant traits, although some rare forms are inherited as autosomal recessive traits. People with the generalised and the localised forms almost always have extensive family histories of the condition.

Dystrophic epidermolysis bullosa - A group of inherited disorders characterised by mechanically induced blistering occurring immediately below the lamina densa of the basement membrane zone. These disorders derive the name dystrophic from the tendency of the blisters to heal with atrophic scarring. Dystrophic epidermolysis bullosa may be inherited as an autosomal dominant or an autosomal recessive trait. In general, it tends to be most severe when inherited as a recessive, and mildest when inherited as a dominant, but there is considerable clinical overlap. There are few data to indicate the prevalence of dystrophic epidermolysis bullosa. A recent study in Scotland indicated an estimated prevalence of 21.4 cases per million.

Junctional epidermolysis bullosa - A group of inherited disorders characterised by mechanically induced blistering occurring within the basement membrane at the level of the lamina lucida. There are three broad types of junctional epidermolysis bullosa:

• Herlitz junctional epidermolysis bullosa - in which death is probable within the first two years of life.
• Non-Herlitz junctional epidermolysis bullosa - in which many people will survive into adult life.
• Junctional epidermolysis bullosa -with pyloric atresia.

Because most affected individuals die early in life, the incidence of junctional epidermolysis bullosa is particularly difficult to ascertain. It is estimated that the incidence of new cases is approximately the same as for dystrophic epidermolysis bullosa, i.e. around 20 per million births. To date, all types of junctional epidermolysis bullosa have been transmitted as autosomal recessive traits.

Symptoms and Treatments

Due to the large number of different forms of epidermolysis bullosa with greatly differing symptoms and prognoses, it is unwise to try to describe these in any detail here. Broadly, the common features of the condition relate to blistering of the skin and mucosae at the slightest friction. In some forms the blistering is confined to particular areas of the body, such as the hands and feet. In others the blistering can affect all of the body. The blistered areas in some forms of epidermolysis bullosa heal normally, in others healing is accompanied by scarring.

In view of this, specific information should always be obtained from a competent clinician who will be able to relate the information given to the precise form of epidermolysis bullosa that the person has. The patient support group DEBRA can provide the names of clinicians and other health care professionals who have a specialist interest in, and knowledge of, the condition.

For further information contact:

DEBRA

DEBRA House

13 Wellington Business Park

Duke’s Ride

Crowthorne

Berkshire RG45 6LS

Reg. Charity No. 1084958.

Tel: 01344 771961. Fax: 01344 762661

Email: debra@debra.org.uk

Website: www.debra.org.uk

DEBRA is an international not-for-profit organisation co-ordinating efforts to help change the lives of people affected by EB. DEBRA’s main activities are:

• funding medical and scientific research into EB.
• providing specialist advice by a team of nurses and social workers to people with the condition.
• DEBRA produces a range of information materials for people whose lives are affected by EB, and a range of materials for health professionals.
• DEBRA runs holiday homes in Brittany , and in Scotland and Weymouth for people with the condition.

FACIAL DISFIGUREMENT

About 400,000 people in Britain have disfigurements to their face, hands or body. These include birthmarks, scars, asymmetrical features, paralysis, skin grafts and conditions affecting the skin (such as psoriasis, vitiligo, acne, EB, Ichthyosis, and Neurofibromatosis). Disfigurement can be present at birth like a cleft lip and palate or caused by an accident, fire, cancer treatment, disease or illness.

Treatments

Surgical and medical treatment depends on the disfigurement/condition. Surgery /treatment can make a disfigurement less noticeable, but it can rarely be removed altogether. Indeed many conditions that affect appearance do not recede or disappear. Some skin conditions be unpredictable or fluctuate. This can be very distressing and hard to accept.

Psychological and social effects

Children, young people and adults who have a medical condition that affects their appearance may be treated unfairly and experience a number of common challenges socially. Whatever the underlying cause of the visual difference, individuals may be stared at, asked questions by strangers, called names, be bullied or rejected. This may happen at school, work or in other public places such as the pub or shops. Such reactions can lead to low self-esteem, lack of confidence, difficulty meeting new people and forming intimate relationships.

Activities that involve exposing ones body (e.g. swimming, sports, wearing summer clothes) can also add further to feeling self-conscious about appearance. In some instances social isolation may occur if adults or parents and their children start to avoid social situations for fear of what they entail and how others will react. Where skin conditions are concerned, there are also many existing myths in our society – that the condition is contagious or caused by poor hygiene or diet for example.

Individual’s ability to adjust and cope with the visual difference in their appearance is not predicted by severity, location or cause of the condition. Research has demonstrated people cope best when they have good quality support networks, a high level of self-esteem and good social (interaction) skills.

Changing Faces

Services for adults, children, young people and their families

We have an Adult Service and a Children and Young People’s Service that provide:

• Information, individual support and counselling
• Workshops
• Family days and other activities
• Self help booklets and videos.

We aim to work with individuals to develop practical ways to tackle difficulties they may have at school, work or in their social life. We aim to increase self-esteem and confidence and enhance social interaction skills to manage many of the common social challenges.

Services for health and social care professionals

Our team can:

• Provide ideas on supporting patients who are experiencing psycho-social difficulties
• Organise training sessions and study days on the psycho-social aspects of living with a disfigurement
• Provide resources for professionals.

We aim to promote best practice in health and social care.

Services for teachers, employers, journalists and broadcasters

Our team can:

• Work with professionals in these areas to promote a culture of acceptance and equal opportunity
• Provide in service training and consultancy
• Tailor made resources for schools and employers.

We aim to raise public awareness and promote rights and opportunities.

For further information contact:

Changing Faces

Changing Faces Centre

33-37 University Street

London WC1E 6JN

Reg. Charity No. 1011222

Tel: 0845 4500 275

Fax: 0845 4500 276

Email: info@changingfaces.org.uk

Website: www.changingfaces.org.uk

GORLIN SYNDROME

Gorlin Syndrome is an autosomal dominant genetic condition (which can affect either sex). Each child of a person with Gorlin Syndrome has a 1 in 2 (50:50) chance of inheriting the faulty gene and so developing signs of the condition. The faulty gene is located at 9q22.3 . There is a prevalence of 1 in 55,000 people affected by the condition, based upon studies carried out.

The main characteristics of the condition are multiple basal cell carcinoma (BCCs), recurrent jaw cysts and non-progressive skeletal abnormalities. Other hallmarks are palmar and plantar pits, ectopic calcification and an increased incidence of congenital malformations.

The syndrome is know by several different names:

Symptoms

Not only does the variability of the condition manifest itself in the presence or absence of a particular feature, but also in severity. For the purpose of diagnosis symptoms are based on the most frequent and/or specific features, with 2 major or one major and 2 minor criteria, as follows:

Major criteria

Minor criteria

Treatments

Patients with Gorlin Syndrome require special consideration because of the possibility of developing multiple skin cancers. Cancer of the skin is generally grouped into non-melanoma (basal and squamous cell carcinoma) and melanoma (pigmented) types. Concerning Gorlin Syndrome, basal cell carcinomas (BCCs) are the predominant type, hence the following information is mainly applicable to this form of skin cancer, i.e. BCCs.

Currently, there are multiple treatments available for non-melanoma skin cancer. The ideal treatment should be one that most effectively eradicates the cancer, maximally spares normal skin, is painless, without side effects, and heals rapidly with minimal scarring. Each patient and individual skin cancer(s) may demonstrate different features that make one of the above treatments more effective than the others. All patients diagnosed with skin cancer should be educated on all possible treatment options. The ?best? treatment is one that is selected, by the patient and physician, after reaching a complete understanding of the available therapeutic modalities.

Radiation therapy , or x-ray therapy, is used much less frequently than in the past, and still may be useful in the treatment of certain BCCs. However, when used in some patients with Gorlin syndrome, radiotherapy may lead to the rapid development of new basal cell carcinomas and therefore should only be used under special/exceptional circumstances!

Treatment in respect of other aspects of the condition would depend greatly on the symptoms patient presents with. It is, however, essential that regular screening is carried out for changes in the skin and for the recurrent jaw cysts (keratocysts).

For further information contact:

Gorlin Syndrome Group

11 Blackberry Way

Penwortham

Preston PR1 9LQ   

Reg Charity 1096361

Tel: 01772 517624

Email gorlin.group@btconnect.com

Web site www.gorlingroup.co.uk   

The Group is organised by sufferers of the condition and their families, with support from a full medical advisory board.  Information, support and advice are available to patients via the web site, quarterly newsletter, telephone helpline and the annual Gorlin meeting.

Group Aims

•  The relief of sickness and the protection and preservation of the health of persons affected by Gorlin Syndrome and any related condition and their families and carers.

•  The advancement of the education of the medical profession and the general public into Gorlin Syndrome and its implications for the family. 

•  The promotion of research into the causes, effects, treatment and management of Gorlin Syndrome and to disseminate the useful results thereof.

HERPES VIRUSES

Herpes simplex causes cold sores, whitlows on the fingers/hands and genital herpes. By adulthood, herpes simplex infection in the UK is around 70%, worldwide it nears 100%. Herpes simplex can be differentiated into two genotypes, type 1 being much more common than type 2. Infection rates are detected by antibody tests since the majority of people infected are unaware of it, being asymptomatic. Recurrences only affect a minority of those infected and occur due to a lowered immune response which may be caused by illness, stress, tiredness, etc. There are nine known human herpes viruses. Herpes simplex and herpes varicella-zoster (chickenpox) cause skin conditions. The other viruses in the herpes family may cause malaise but do not affect the skin.

Cause
Herpes simplex virus types 1 and 2 produce sores: cold sores on the face, herpetic whitlows on the hands and fingers and “herpes” elsewhere on the body, especially on the genitals.

The virus is transmitted by direct skin-to- skin contact with the affected part. The incubation period is usually 2-14 days, however asymptomatic carriers may develop symptoms years after first contracting it.

Symptoms
The primary illness last about 2-3 weeks and is self-limiting: flu-like symptoms followed by blisters (on ordinary skin) which open into sores or ulcers before scabbing over and healing. After the primary infection, herpes simplex virus remains latent in the body and may reactivate at a later date. If herpes simplex recurs, it will only affect the dermatome (nerve region) where infection took place causing one or more spots. These may be preceded by flu-like symptoms. Neuralgia, described variously as scalded skin, deep aches, tingling or shooting nerve pains, may be experienced in the dermatome either before or between outbreaks. Symptoms are not spread to other nerve regions. With time recurrences usually diminish both in frequency and duration.

Treatments
If the primary infection of herpes simplex is severe, a course of antiviral drugs may be prescribed: aciclovir, Famvir or Valtrex. Otherwise all that is necessary is to alleviate symptoms using antipyretics, analgesics and topical anaesthetics as appropriate.

If herpes simplex recurs with a frequency that the patient finds distressing, antiviral treatment may be given prophylactically for a period of six months (minimum useful treatment).

Self-help is also often effective. The Herpes Viruses Association can offer suggestions, as well as counselling, so that the patient’s anxiety is ameliorated.

Eye infection: Varicella-zoster virus may affect the ophthalmic division of the trigeminal nerve causing pain in, usually, one eye. Diagnosis is by fluoroscein stain. Treatment with antiviral ophthalmic cream as well as antiviral pills is recommended. Eye infection may damage sight or even, rarely, lead to blindness.

Psychological Effects
A diagnosis of herpes simplex can be very distressing. Since the early 1980s, inaccurate and deliberately misleading information has appeared in newspapers and magazines. Women, in particular, should be reassured in advance by the diagnosing doctor about two myths which they may come across: herpes simplex is not a causal factor for cervical cancer and women who catch herpes simplex prior to conception need not assume they will need a Caesarean section.

A diagnosis of herpes simplex can often cause greater psychological misery than physical suffering. Sexually transmitted conditions carry a stigma, exacerbated in this country by an immature national attitude to sex, characterised by prurience and prudery. The ‘herpes hype’ and stigma associated with the condition means that most people remain secretive about the condition.

For further information contact:

Herpes Viruses Association (SPHERE)

41 North Road

London N7 9DP

Reg. Charity No. 291657

Tel: 020 7607 9661 (office and Minicom V)
Tel: 0845 123 2305 (helpline – 24 hours access)
Fax: on request

Website: http://www.herpes.org.uk

The Herpes Viruses Association and its officially recognised subgroup the Shingles Support Society (see “shingles and chickenpox”) have as their aims:

• to promote good health by advancing information about herpes viruses and the means by which these conditions may be most effectively prevented and treated to the public, media and medical professionals.
• to supply specific answers for the public and members of the association who are affected by the viruses through the confidential helpline run by trained volunteers who all have herpes simplex, letters or counselling.
• to provide members with leaflets on every aspect of “living with herpes”, leaflets, a lively and informative quarterly journal as well as workshops, seminars, local contacts and social events.

“I thought my life was at an end and I would never have sex again,” wrote Darren. He is now in a relationship.

HIDRADENITIS SUPPURATIVA

Hidradentis suppurativa is a disease of the apocrine sweat glands. It was first diagnosed as a condition by Velpeau in 1839 and in 1854 was associated with a peculiar inflammation of the sweat glands by Verneuil, who also named the disease. Hidradenitis suppurativa is sometimes referred to as: apocrinitis, apocrine acne, Verneuil's disease, Velpeaus disease, Fox-den disease, acne inversa or hidradenitis axillaris. Although not a fatal disease the ramifications, both physical and emotional, that accompany hidradenitis suppurativa, can prove difficult to overcome for people struggling with the condition. It is estimated to affect up to 3% of the world's population.

Causes
There are many theories about the causal factors for this condition, however a definitive cause remains elusive.

Symptoms
The disease affects the areas where the apocrine glands occur. During the first few weeks of foetal development these glands cover the entire body, but have receded and stabilised by the time of birth into the pubic regions. Here they stay dormant until puberty.

The onset of hidradenitis is found most commonly between the ages of 11 and 30, although cases have been documented in children as young as 2 years. Tender red nodules develop in the apocrine glands of the axillae (commonly in women), in the groin and on the buttocks (commonly in men), which are firm at first, but later become fluctuant, painful and eventually rupture discharging pus.

Hidradenitis develops in three stages and due to its insidious nature is normally misdiagnosed in its first stage as a single abscess or boil and is thus treated as such. It is only when the disease has reached stage II that the majority of accurate diagnoses are made.

The spread of the condition is by a mechanism known as sinus tracting. This is caused by the effect of bacterial infection, and pressure from the resulting abscesses, forcing a pathway under the skin surface and infecting other tissues of the body.

Types
Stage I - Single or multiple abscess like growths in isolated incidences, with no scarring or sinus tract involvement. The possibility of long term remission at this stage is very high and people with the condition may have periods of up to several years between outbreaks.

Stage II - Multiple or single abscess like growths in multiple regions, with possible sinus tract scarring beginning to occur. This stage is characterised by infrequent periods of remission. It is at this stage that the majority of diagnoses are made.

Stage III - Multiple abscess like growths throughout the pubic areas; widely spread scarring from previous infections and formation of sinus tracts, giving rise to constantly weeping open wounds.

Treatments
Hidradenitis suppurativa is not a contagious disease and cannot be transmitted from person to person.

There is no cure at present for the condition. However, if caught in the first stage, prompt surgical intervention can offer a good possibility of full remission.

Some treatments have met with limited success and it is important to consider possible side effects of any course of treatment.

For further information contact:

H.S.S. Group UK & Ireland

Supporting people with Hidradenitis Suppurativa

207 Fernhill Road

Bootle

Merseyside L20 0AG

Tel: 0799 0776168

Email: carolyn.corrin@ukonline.co.uk

Website: www.communityzero.com/ukhsgroup

The Group aims to:

HYPERHIDROSIS - Excessive Sweating

Sweating is regulated by the sympathetic nervous system. In about 1.0% of the population, this system is revved-up, over-stimulating the sweat glands causing sweating to occur at inappropriate times in specific areas of the body. This is called hyperhidrosis.

Causes

While doctors don't know why hyperhidrosis starts, they have successfully linked it to over activity in the sympathetic nervous system, which runs along the vertebra of the spine inside the chest cavity.

This chain controls the sweat glands, responsible for perspiration throughout the entire body. Depending on which part of the chain becomes overactive, different parts of the body become affected.

Sometimes people will sweat excessively because of other illnesses. These causes must first be ruled out before primary hyperhidrosis can be diagnosed.

Symptoms

Hyperhidrosis can occur in many different areas of the body, but most commonly affects the hands and feet. Palmar and planter hyperhidrosis, as they are known, are probably the most troublesome, as they are difficult for the sufferer to hide. Shaking hands becomes uncomfortable and working with paper and metals are a problem, making business and day-to-day life a struggle. Often people report that they are even embarrassed to hold the hands of those they love.

Hyperhidrosis is also common in the armpits (axillae), causing staining of clothes and, together with an embarrassing odour, forces most sufferers to change their clothes several times a day.

Facial, back and groin sweating, although less common, affect a considerable number of people.

Regardless of where it is located, hyperhidrosis presents an embarrassing problem to those afflicted with it.

Treatment

Iontophoresis

A machine called an iontophoresis machine is now available in dermatology departments in most NHS hospitals and in some private hospitals and specialist clinics.

Until about five years ago, iontophoresis was mostly carried out in physiotherapy departments and achieved varying results. However, iontophoresis is now mostly performed by specialists and, with the use of the new iontophoresis machines, the results have been quite outstanding.

Nearly all sufferers have achieved a complete cessation of sweating after about four, 20 minute sessions. The absence of sweating tends to last from about two weeks to three months. Sufferers then undergo another course of treatment, which can be practiced at home if they want to buy their own machine. For those few sufferers who do not get a complete cessation of sweating using just tap water, a drug called Glycopyrronium Bromide which is available on prescription can be added to the water. This ensures good results.

The treatment is pain free, safe, cheap to run and can be done as often as is necessary; although a treatment protocol is recommended.

Although the results are good with iontophoresis, treatment generally has to be repeated often. Weekly or fortnightly is quite normal.

Botulinum Toxin

'Botox' as it has become more widely known, is now licensed in the UK to treat axillae hyperhidrosis only.  The treatment consists of a serieis of injections under the skin into the axillae.  The results to date have proven to be successful.  Eventually the sweating returns and a further course of treatment is needed. This treatment is available in some NHS hospitals and several private hospitals and clinics.

Surgery

In order to end hyperhidrosis, the surgeon must divide the overactive sympathetic nerves that cause the excessive perspiration. This operation is called an Endoscopic Thoracic Sympathectomy. Recovery is achieved in a short time and most people are able to return to work in week or two, depending on their individual comfort level. This is available on the NHS and privately; however, it must be noted that ‘compensatory sweating’ is common and the risk of this must be discussed with a vascular surgeon.

Surgery is only suitable for those with palmar, axillae and facial hyperhidrosis and only when other treatments have not been successful.

Disposable axillae pads

These pads are now available to wear with clothing, under the arms, to prevent staining to clothing and to help reduce excessive perspiration showing. Contact: www.mediveinclinic.com

The Hyperhidrosis Patient Support Group is available on line for sufferers who sweat excessively. We are able to send out free information packs to all those who require them.

• To put families who have a common situation or difficulty in touch with each other to enable them to gain mutual support and friendship.
• To reduce the sense of isolation families and children with disabilities or special needs often feel.
• To liaise with the medical profession to communicate the group’s existence and to share medical information available to us.
• To have quarterly conference calls and to produce a quarterly Newsletter.
• To organise an Annual or Bi-Annual Family Event.
• To promote the importance of the group and the need for communication.
• To organise medical training awareness days in an attempt to gain earlier diagnosis.

Ignorance creates disillusion – Awareness ends confusion

ICHTHYOSIS

Ichthyosis is a term used to describe continual scaling of the skin. It comes from a Greek word ‘ichthys’ which means fish. It is quite rare and can be inherited (genetic or congenital) or it can develop later in life (acquired). The inherited forms of ichthyosis are usually evident at, or soon after, birth and they tend to persist throughout life, although some types improve with age. Most, if not all, of the skin is affected. Ichthyosis can cause severe psychological problems. The public’s reaction to its appearance is often hostile and unsympathetic. Staring and teasing are common.

Causes
Faulty copies of genes, which are passed on from one generation to the next, cause inherited ichthyosis. Each type of ichthyosis is due to a different genetic mutation and the pattern of inheritance varies. Recent research on bullous ichthyosis has led to the discovery of a particular mutation to the gene that controls the skin protein keratin. Other types of ichthyosis have been shown to be related to abnormalities in the lipid or fat chemicals in the skin such as in X-linked ichthyosis.

Symptoms
These can vary greatly between the different types of ichthyosis (see individual types). Darkened and rough skin can appear as scales separated by deep creases. In some cases skin blisters and peels. The main forms of inherited ichthyosis are as follows:

Ichthyosis vulgaris - The most common form and usually quite mild, with fine scaling or roughness on the arms and legs.

X-linked recessive ichthyosis - Occurs in men and boys and causes brownish flat scales mostly to the arms, legs, and tummy. Varies in severity and some affected babies have a difficult delivery. Genetically, it is passed on through the female line.

Non-bullous ichthyosiform erythroderma and lamellar ichthyosis - These are very rare, are often severe, with prominent scaling, and cause redness over most of the skin. Affected babies are often born with a shiny waxy second skin (collodian membrane), which sheds in a few days.

Bullous ichthyosis - This is another rare red ichthyosis, which causes blistering, fragile skin early in infancy and thick scaling especially around the joints later on.

Harlequin ichthyosis - This condition is an extremely rare but very severe form of ichthyosis, which causes thick plates of scale and severe complications at birth. Many affected babies do not survive.

Netherton’s syndrome - The affected infant has red inflamed scaly skin from birth, fragile spiky hair and difficulty gaining weight in early childhood.

Sjogren–Larsson syndrome - Another condition that also produces scaling and thickening of the skin which may not be obvious until a few months of age. Affected babies also have a type of cerebral palsy.

Conradi-Hunermann syndrome, neutral lipid storage disease and KID syndrome - These are very rare and are associated with other medical problems.

Treatments
The milder ichthyoses can be well controlled using regular moisturisers (emollients), including bath oils, soap substitutes and moisturising creams. The more severe forms may make affected babies quite unwell and treatment in special care baby units will give them a good start. Moisturisers are again important as an ongoing treatment and antibiotics may be needed from time to time. A group of drugs called retinoids may be tried as they lessen the scaling in many forms of ichthyosis. The complicated varieties of ichthyosis will need additional treatments according to their severity. As yet there is no cure for ichthyosis.

For further information contact:

Ichthyosis Support Group (ISG)

PO Box 7913

Reading

RG6 4ZQ

 

Tel: 0118 967 0183

Email: isg@ichthyosis.org.uk

Website: www.ichthyosis.org.uk

The aims of the Ichthyosis Support Group are to:

 

provide support, encouragement and information on ichthyosis.

raise awareness of ichthyosis, not only amongst the medical profession but also to the public.

promote research into treatments for ichthyosis.

The Ichthyosis Support Group provides:

• a quarterly newsletter.
• an information pack with literature on various forms of ichthyosis and skin care tips.
• national get-togethers.
• a base of interested medical professionals.
• a pen pal scheme.

Lyme Regis

Dorset DT7 3ZU (enclose SAE for reply)

Lymphoedema can create distressing, debilitating and uncomfortable swelling.

Lymphoedema is the term used to describe the swelling, which, most commonly affects the limbs, but the face, neck, abdomen and genitals can be involved. It is still not a well documented condition, but early diagnosis and treatment are essential for its optimum management 

Types and causes 

There are two types (classifications) of lymphoedema

• Primary

• Secondary

Primary Lymphoedema :- may be present at birth, develop at puberty or in mid-life, and relates to abnormal functioning/mal-formation of the lymphatic system.

Secondary lymphoedema :- may occur following treatment for cancer, surgery, radiation therapy, recurrent infections or trauma such as road traffic accidents, burns or perhaps thrombosis.

If lymphoedema is left untreated, there is a risk that it may worsen, over time progressing from a soft swelling which will pit readily with light finger pressure  to an extremely thick, dry, hard texture, resembling elephant hide. Along side this progression there is an increased possibility of repeated episodes of cellulitis (infection in the affected area) that could even cause an admission to hospital.

Physical and phycho-social impact of lymphoedema

Every aspect of daily living can be affected by lymphoedema :-

• Physical activity - affected by heaviness and discomfort causing a reduction of movement/function 
• Emotional – unable to buy clothes and shoes that fit correctly. Looking in the mirror and seeing an altered body image
• Social activity – inability to physically continue the hobbies/sports/housework/shopping or have the correct footwear or dress code
• Financially – May be unable to continue in a specific job or require reduced hours

Treatment

The first step to correct treatment is to locate a therapist in the area, where a full assessment can take place and the right diagnosis made. Then, and only then can an individual care package be recommended.  The British Lymphology Society (BLS) advocates the four corner stones of care.

Skin care: to maintain a good tissue condition and reduce the risk of infection.

External support/ compression  garments: reduce new lymph formation and enhance lymph drainage by improving muscle pump efficiency.

A programme of exercise and movement: used to maximise lymph drainage without over exertion (which may encourage swelling).

Simple lymph drainage (SLD): involves the use of simple hand movements and is designed to be easily accessible to patients and their relatives. It can be carried out by the patient, carer, or by the therapist and is generally used twice daily.

Some patients with lymphoedema may need more intensive therapies which may include Manual Lymph Drainage (MLD) or Multi- Layer Lymphoedema Bandging (MLLB).

Drug therapy is of limited value but diuretics (water tablets ) are sometimes still recommended.

Pressure pumps are contra- indicated except under strict medical control.

Surgery is an absolute last resort and rarely recommended.

People with lymphoedema, or suspect they may have lymphoedema, often feel isolated, confused and don’t know where to turn. It is important to learn about lymphoedema, the condition, treatment, support and care available in order to take back control.

Contact British Lymphology Society for more information and contact address for a local lymphoedema service at:  www.lymphoedema.org/bls.

The Neurofibromatosis Association

Quayside House

38 High Street

Kingston on Thames

Surrey KT1 1HL

Registered charity No 1078790

Tel: 0208 439 1234

Fax: 0208 439 1200

Minicom: 0208 481 0492

Email: info@nfauk.org

Website: www.nfauk.org

UK website: www.pemphigus.org.uk

• provides a forum for people living with PV and those personally or professionally
• concerned with it.
• l gives people an opportunity to contact others with pemphigus.
• helps people find information they need.

The Network also offers support to people living with Mucous Membrane Pemphigoid (including Ocular Pemphigoid).

Psoriasis of the scalp and nails -Scalp psoriasis affects the majority of people who develop the condition. Scaling occurs, especially around the hairline. It is often itchy and can sometimes lead to a temporary loss of hair. Nail involvement is less common. Nails may show pitting, flaking and ridges. This can be an early indication of psoriatic arthritis (see section on Psoriatic Arthritis).

The lowering of self-esteem is one of the most profound aspects of psoriasis. With such an emphasis on appearance in society, the incidence of psoriasis can cause a great deal of distress. One of the most difficult aspects is its effects on everyday life. A reduced self-esteem can affect the freedom to sunbathe or swim, visit the hairdresser or try on new clothes in a store and sometimes the choice of career. Having to cover up in warm weather and feeling unable to pursue the activities of people who are unaffected by the condition, add to the debilitating features of living with psoriasis.

Temperature regulation is affected and people with the condition can feel hot when others feel cold, and vice versa. Sleep can be difficult. Itching and soreness can exacerbate the condition, leading to a general feeling of being unwell.

Helpline: 08456 760 076

Tel: 01604 711129. Fax: 01604 792894.

Email: mail@psoriasis.demon.co.uk

Website: www.psoriasis-association.org.uk

The aims of the Psoriasis Association are to support people with psoriasis, raise awareness of the condition and fund research into the causes and treatments of psoriasis .

also,

Psoriasis Help

Website: http//www.psoriasis-help.org.uk

This is a not for profit, non-commercial, free membership, UK based web site that helps bring psoriasis sufferers together to discuss this disease and support them through the sometimes significant emotional stress that it places on them. Everyone is welcome.

also,

Website: www.psoriasis-uk.org

Email: info@psoriasis-uk.org

Email: info@psoriasis-uk.org

Website: www.psoriasis-uk.org

and,

Helpline: 08456 760 076

Tel: 01604 711129. Fax: 01604 792894.

Email: mail@psoriasis.demon.co.uk

Website: www.psoriasis-association.org.uk

Scleroderma The word scleroderma means 'hard skin'. The condition affects the blood vessels, immune system and connective tissue. The skin, usually of the hands and feet, becomes stiff, tight and shiny. The disease is also known as systemic sclerosis, where other parts of the body may be affected. It is estimated to affect 7,000 - 7,500 people in the UK.

Raynaud’s & Scleroderma Association

112 Crewe Road

Alsager

Cheshire ST7 2JA

Please enclose an A5 sae for reply

Reg. Charity No. 326306

Tel: 01270 872776 (answerphone available out of hours)

Fax: 01270 883556

Freephone 0800 917 2494 (to request information pack)

Email: info@raynauds.org.uk

Website: www.raynauds.org.uk

Aims of the Association:

• to promote a greater awareness of Raynaud's, scleroderma and associated conditions.
• to improve communication between doctors and patients.
• to put patients in touch with each other in order to exchange ideas and information.
• to offer advice and support to sufferers and their carers.
• to raise funds for research and welfare projects.

also,

Scleroderma Society

3 Caple Road

Harlesden

London NW10 8AB

Please enclose sae for reply

Reg. Charity No. 286736

Tel: 0208 961 4912 (any reasonable time)

Email: info@sclerodermasociety.co.uk

Website: www.sclerodermasociety.co.uk

Shingles Support Society

(c/o Herpes Viruses Association – SPHERE)

41 North Road

London N7 9DP

Reg. Charity No. 291657

Tel: 0207 607 9661 (office and minicom V)

Helpline: 0845 123 2305 (24 hour access)

Fax number available on request

Wesbite: http://www.herpes.org.uk/shingles/index.html

• Skin cancers are extremely common with more than 73,000 new cases registered each year in the UK. Many cases are not reported so the real number of cases is actually much higher. 

• Over the last twenty-five years, the incidence of malignant melanoma has increased more than for any other cancer in the UK. The male rates of melanoma have quadrupled in the past 30 years in the UK.

• Malignant melanoma is more common in women than men. However, mortality is higher among men – most probably due to late detection.

• Around a third of melanomas occur in people aged less than 50 years and in the 15-39 year age-group malignant melanoma is the second most common cancer.

• Over 2,000 people die from skin cancer each year in the UK.

• There are now more deaths from malignant melanoma in the UK than in Australia, although more Australians than Britons are diagnosed with it each year.

Types of skin cancer
There are two main types of skin cancer, malignant melanoma and non-melanoma skin cancer (NMSC).

Malignant Melanoma (MM)

Malignant melanomas are the least common, but most serious type of skin cancer with 8,000 new cases each year in the UK and 1,800 deaths. MMs are curable if found early, but can be very difficult to cure if they have spread into the deeper layers of the skin. MM develops in cells known as melanocytes, which are responsible for the colour of our skin.

Non-melanoma skin cancer (NMSC)

The majority of NMSCs are Basal Cell Carcinomas (BCCs), also known as rodent ulcers or Squamous Cell Carcinomas (SCCs).

Both forms of NMSCs are highly treatable and survival rates for NMSCs are over 95%. However, if left untreated, these tumours can become destructive, invading local tissues and causing disfigurement. Whilst BCCs rarely metastasise, SCCs can, and in 2003, there were 514 deaths in the UK from NMSC. 80% of NMSCs occur in people aged 60 years and over and they constitute a substantial public health problem due to the very large numbers of cases each year.

What causes skin cancer?

The main cause of skin cancer is too much sun. Sunburn can double the risk of skin cancer. Lots of sun over your lifetime also increases your risk of certain skin cancers.

Using a sunbed increases the risk of skin cancer. The more you use sunbeds the greater the risk is likely to be and when the tan fades the skin damage remains. Sunbeds also cause premature skin aging, which means that skin becomes wrinkly, tough and blemished at a younger age.

Who is most at risk?

Some people are more likely than others to get skin cancer. These people tend to have one or more of the following…

• fair skin that tends to burn in strong sun

• red or fair hair

• lots of moles or freckles

• a personal or family history of skin cancer

• had sunburn, especially when young

As a general rule, the fairer your skin, the more careful you should be in the sun. Knowing your skin type will help you work out when you need to protect yourself.

Be SunSmart in the Summer Sun

Those most at risk are people with fair skin, lots of moles or freckles or a family history of skin cancer. Know your skin type and use the UV Index to find out when you need to protect yourself.

Spend time in the shade between 11 and 3

The summer sun is most damaging to your skin in the middle of the day.

Make sure you never burn

Sunburn can double your risk of skin cancer.

Aim to cover up with a t-shirt, hat and sunglasses

When the sun is at its peak sunscreen is not enough.

Remember to take extra care with children

Young skin is delicate. Keep babies out of the sun especially around midday.

Then use factor 15+ sunscreen

Apply sunscreen generously and reapply often.

Also…

Report mole changes or unusual skin growths promptly to your doctor.

Find out more at www.sunsmart.org.uk

Where can skin cancer start?

The most common sites for melanoma are the leg in women, the back in men and the face in older people. But a melanoma can grow anywhere, sometimes on the sole of the foot, or on the buttocks. Other types of skin cancer often affect areas that catch the most sun such as the head, neck, shoulders or arms.

Check skin regularly for changes using the ABCD rule. This is especially important for people who are fair-skinned and have lots of moles or freckles.

The ABCD rule:

Asymmetry: The two halves of a melanoma may not look the same.

Border: Edges of a melanoma may be irregular, blurred or jagged.

Colour: The colour of a melanoma may be uneven, with more than one shade.

Diameter: Many melanomas are at least 6mm in diameter, the size of a pencil eraser.

Other signs of skin cancer:

·        a new growth or sore that won’t heal

·        a spot, mole or sore that itches or hurts

·        a mole or growth that bleeds, crusts or scabs

Any changes in a mole, freckle or patch of normal skin that occur quickly over weeks or months should be taken seriously.

Cancer Research UK

PO Box 123

London WC2A 3PX

Reg. Charity No. 1089464

Tel: 0207 242 0200

Website: www.cancerresearchuk.org

Cancer information nurses: 0207 061 8355

Patient information website: www.cancerhelp.org.uk

SunSmart website: www.sunsmart.org.uk

Cancer Research UK is dedicated to research into the causes, treatment and prevention of cancer.

Wessex Cancer Trust’s Marc’s Line

Marc’s Line Resource Centre,

Dermatology Treatment Centre

Level 2

Salisbury District Hospital

Salisbury

Wiltshire SP2 8BJ

Tel: 01722 415071

Website: www.wessexcancer.org/

(part of the Wessex Cancer Trust Cancer Information Network)

Tuberous sclerosis is an autosomal dominant disorder of variable expression, characterised by extra tissue growths, hamartomas, in almost any organ of the body. Hamartomas include cortical tubers and subependymal nodules in the brain, retinal phakomas, renal cysts and angiomyolipomas, cardiac rhabdomyomas, pulmonary cysts and a variety of cutaneous stigmata - hypomelanic macules, facial angiofibroma, ungual fibroma, shagreen patches and forehead plaques. It is associated with learning disability (in up to 50% of cases), epilepsy (60-70%) and autistic traits (50%). Up to 90% will have some skin signs, and in some cases these will be the only clinical feature of the condition. The condition affects between 1-in-6,500 to 1-in-10,000 people.

Causes

Tuberous sclerosis is caused by a defect in cell growth regulating genes, either on chromosome 9 or on chromosome 16. Although approximately two thirds of cases are sporadic, it is essential that genetic counselling is offered to families after diagnosis because of the variability of the disorder. A diagnosis is presently confirmed by clinical and radiological investigations. DNA tests, including pre-natal testing, are now possible for about 85% families.

Symptoms

Tuberous sclerosis can present at any age, with symptoms ranging from seizures or cardiac arrhythmias in infancy, to the later appearance of facial angiofibromas or renal angiomyolipomas. Ensuing investigations may subsequently reveal hypomelanic macules (90%), which fluoresce under ultra-violet light, calcified subependymal nodules (80%), which show up on a CT brain scan, and, in neonates, cardiac rhabdomyomas (60%). Life expectancy is generally good, even for those with severe learning disability. Infrequently, death can occur from brain tumours or kidney disease, but most people have good long-term prospects if monitored appropriately for signs of serious problems.

Skin signs which present from birth onwards are hypomelanic macules (90%), which can repigment in adult life, and smooth, fibrous forehead plaques (25%). Shagreen patches (40%), thickened discoloured skin or nodular lesions, are more likely to develop later in the lower lumbar area. Facial angiofibromas (85%) can appear at any age from two years upwards, starting as tiny red dots and developing during adolescence across the nose, upper cheeks, and particularly in the chin and nasolabial folds. This rash used to be misleadingly called adenoma sebaceum.

Ungual fibromas (50%) can grow from the nails of both hands and feet, from late adolescence onwards causing grooves in the nails even if the lesion cannot be seen. Skin tags occur in 30% of people affected by the condition, and can be profuse at the back of the neck, across the shoulders, in the groin or on the testes.

Treatments

Since there is no cure for tuberous sclerosis, treatment has to be symptomatic. Epilepsy is treated with drugs (or occasionally surgery); raised intracranial pressure can usually be treated by surgical removal of the tumour and/or the insertion of a shunt; renal problems may require embolisation of an angiomyolipoma or more rarely partial nephrectomy, dialysis or transplantation; symptomatic lung disease may respond to treatment with progesterone; and cardiac problems only rarely require medical treatment. Behavioural difficulties (including hyperactivity, autistic features, sleeping problems and hallucinations) are often the most troublesome for families and frequently require appropriate intervention.

Of the various skin manifestations associated with tuberous sclerosis, there are three which may benefit from treatment. The forehead fibrous plaques and similar growths on the head can sometimes enlarge considerably in late adolescence and require plastic surgery. The ungual fibromas can be removed either by laser or diathermy (although they usually regrow whatever treatment is used). However it is the facial angiofibroma which cause the most psychological distress to patients and these can also bleed profusely if rubbed. These angiofibromas benefit most from the laser treatments, which are currently thought to be the most effective and least traumatic treatments. The argon and pulsed dye lasers have more success on the vascular lesions, whilst the carbon dioxide laser is more successful where there is a greater fibrous component to the lesions.

For further information contact:

Tuberous Sclerosis Association

PO Box 9644

Bromsgrove

Worcestershire B61 0FP.

Reg. Charity No. 1039549.

Tel: 01527 871898

Email: support@tuberous-sclerosis.org

Website: http://www.tuberous-sclerosis.org

The Tuberous Sclerosis Association has three main aims:

• supporting people with tuberous sclerosis and their families or carers, providing information and advice on the disease and its management
• providing education, publicity and information to promote an understanding and awareness of the problems encountered by the condition
• funding research into the causes and management of tuberous sclerosis.

VITILIGO

Vitiligo is one of the most common skin diseases, and yet the vast majority of people have never even heard the name. Probably because vitiligo is not life threatening, statistics on its prevalence are not routinely collected. On the basis of various clinical studies around the world, it is generally estimated to affect 1-4% of all races and populations. This implies that over half a million people in the UK alone have vitiligo.

Symptoms and Causes

Vitiligo can affect anyone of any age and either sex. In those who have the condition, patches of skin turn white, and in some cases their hair can also lose its colour in patches. Although it has no effect on the patient’s general physical health, the white patches usually increase over time , producing further patches with patches joining together to form large areas of totally white skin and are highly vulnerable to sunburn, even when only briefly exposed to mild sunshine. On exposed areas such as the face and hands it can be very disfiguring, especially on dark or tanned skin. Many people who have vitiligo find it socially and psychologically devastating, and can lose their self esteem and self confidence.

The causes are not yet properly understood, but there is growing evidence which indicates that the disease is genetic in origin in most cases.

There are other skin conditions, particularly fungal infections, which can easily be mistaken for vitiligo. If there is any doubt about the diagnosis, a referral to a hospital dermatology (skin) clinic is advised.

Treatments

An outright cure has not yet been found, but there are recognised National Health Service (NHS) treatments which can sometimes bring colour back into the white patches or at least control their spread, although there is no guarantee that they will work in any individual case.

One of these treatments is the use of steroid creams on the affected areas at the onset of the disease. This can sometimes stop the spread of the patches or, even restore some of the lost colour. This treatment is usually given only for a limited period under medical supervision.

Another NHS treatment involves the use of ultraviolet light. One of these treatments, known as PUVA (psoralen + UVA), can encourage the natural colour to come back within the white patches. This treatment involves the use of drugs called psoralens, which make the skin sensitive to light. The skin is then exposed to ultra-violet A light . In the UK, PUVA is normally available only as a hospital outpatient treatment, and it should always be supervised by a dermatologist (skin specialist).

A more recent development is the use of narrow-band ultraviolet B light This has the advantage that no drugs need to be taken, and the repigmentation is often more successful with this method than with PUVA. In the UK this treatment is usually only available in hospitals under the supervision of a dermatologist.

Recent clinical studies have also shown that the use of Tacrolimus (Protopic), an anti-immune agent, may be beneficial in some cases. More trials are required in order to determine whether this product has a place in the treatment for this condition.

A further development in research, has shown that psychological counselling using cognitive behavioural therapy can both help the patient to recover his/her self-esteem and can, in some cases, help lost colour to return to the white patches.

Complementary treatments, including herbal and homoeopathic remedies, can be very expensive. They may sometimes work, but there is no proof of this and there could be unforeseen side effects. The patient should be cautious and should never take any medicine or pills without knowing what they contain. It is important to inform the General Practitioner about any treatments undertaken, and to make sure that the complementary practitioner consulted is properly qualified and registered with a recognised professional body. Anyone who claims to offer a ‘cure’ should be avoided.

Further informtaion about other treatments can be obtained from the Vitiligo Society's website.

For those who are troubled by their appearance, concealing the white patches may improve self confidence. There are cover creams which are specially designed for this purpose and are suitable for use by men, women and children alike. Some of these, classified by the NHS as ‘borderline substances’, can be prescribed by doctors. The Skin Camouflage Service of the British Red Cross has a nationwide network of clinics which advise on the use of cover creams. Some people prefer to use self-tanning creams (sometimes called fake tans), which are available over the counter at most chemists or beauty counters.

It is important to protect the white patches from burning in the sun. These patches are wholly or partly lacking in the pigment which is the skin’s natural protection against sunburn. Allowing the skin to burn can encourage the vitiligo to spread. The patches should be protected from the sun by clothing, or by the use of a high factor sunblock. Some brands of sunblock, which have a sun protection factor of 25 or above are classified as borderline substances and can be obtained on prescription.

Children and young people

Children with vitiligo cope best if parents answer their questions about their condition truthfully and simply. They need to be reassured that it will not affect their family’s feelings towards them. They can have problems with bullying and teasing at school, which may be overcome by explaining vitiligo to teachers and enlisting their help.

For further information contact:

Vitiligo Society

125 Kennington Road

London SE11 6SF

Reg. Charity No. 1069607. A company limited by guarantee registered in England and Wales No. 3542195

Tel: Freephone 0800 018 2631

Fax: 0207 840 0866

Email: all@vitiligosociety.org.uk

Website: www.vitiligosociety.org.uk

The Vitiligo Society defines its mission as promoting a positive approach to living with vitiligo. It aims to:

• offer support and understanding to people with vitiligo and to their families.
• offer advice on how to cope with the condition.
• promote and fund research with the objectives of establishing the causes of vitiligo and finding a safe and effective treatment.
• campaign for a better understanding of vitiligo among the medical profession and the general public.
• gather and distribute information about the condition.

Also,

XERODERMA PIGMENTOSUM

Xeroderma Pigmentosum (XP) is a rare genetic disorder that may cause extreme sensitivity to the sun's ultraviolet rays. Unless patients with XP are protected from sunlight, their skin and eyes may be severely damaged. This damage may lead to cancers of the skin and eye. XP has been identified in people of every genetic group all over the world. There are about 100 confirmed cases in the UK.

Causes Ultraviolet light damages the DNA in cells and disrupts normal cell functioning. DNA (deoxyribonucleic acid) within our genes contains all the coded information needed to direct cell functions.

Two factors combine to cause the abnormalities in XP. Firstly, a person inherits traits from each parent which, when combined, lead to an unusual sensitivity to damaging effects of ultraviolet light. Secondly, exposure to the sun, which contains ultraviolet light, leads to changes in the skin and eyes.

Damaged DNA is repaired by the DNA repair system. But the DNA repair systems of eople with XP do not function properly. As a result, un-repaired DNA damage builds and causes cancerous cell changes or cell death.

Symptoms
Many people with XP get unusually severe sunburn after a short period of sun exposure. The sunburn may last much longer than expected, perhaps for several weeks. This type of sunburn will usually occur during a child's first exposure, and it may be a clue to the diagnosis of XP. However, some people with XP do not burn more easily and the disease will be undetected until unusual skin changes appear over time.

Most patients with XP develop freckles at an early age. Continued sun exposure will lead to further changes in the skin, including irregular dark spots, thin skin, excessive dryness, rough-surfaced growths and skin cancers. These skin changes will resemble those of elderly people who have spent many years in the sun. In people with XP, the changes caused by sun damage often begin in infancy and almost always before the age of 20.

The eyes of a person with XP are often painfully sensitive to the sun and may easily become irritated, bloodshot and clouded. Non-cancerous and cancerous growths on the eyes may occur.

Treatments

There is no cure for XP, but much can be done to prevent and treat some of the problems it causes:

• Protection from ultraviolet light, by a combination of physical and chemical means. These include sun avoidance, shade, clothing (including hats), optical filtration and sunscreens.
• Frequent skin and eye examinations.
• Prompt removal of cancerous tissue.
• Neurological examination in some cases.

Text extracted from: 'Understanding Xeroderma Pigmentosum' published by US Department of Health & Human Services (by permission).

For further information contact:
XP Support Group, 2 Strawberry Close, Prestwood, Great Missenden, Bucks., HP16 0SG. Reg. Charity No. 1075302.

Tel: 01494 890981.
Fax: 01494 864439.
E-mail: info@xpsupportgroup.org.uk
Website: http://xpsupportgroup.org.uk/

The XP Support Group is a charitable trust set up to continue the work of the Xeroderma Pigmentosum Society Inc., a non-profit organisation based in New York State, USA. Parents of children with XP set up both the XP Society (USA) and the XP Support Group (UK). The XP Support Group is independent of the XP Society.

The aims of the Support Group are:

• to relieve the needs of people with Xeroderma Pigmentosum and UV-related conditions and their families;
• to advance the education of the public in Xeroderma Pigmentosum;
• to promote research into Xeroderma Pigmentosum.

To achieve these aims the Group will endeavour to: 

• raise funds for the XP Research fund set up by the XP Society;
• assist families to attend Camp Sundown (a night-time camp held once a year in the USA) or respite in a protected environment. Our respite home is at St Katharine’s, Frieth in Buckinghamshire, and is where we hold our annual night-time camp called the “Owl Patrol”;
• give grants for UV protective products;
• raise public awareness by means of an education campaign.