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 o