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 precursor 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, leading to comedones (blackheads),
small pimples, large pustules, or painful
swollen cysts. 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 ingredient
benzoyl peroxide, which is available from
chemists. Salicylic acid is also available
from chemist shops and can be effective
in comedonal (blackhead) type acne. Antibiotics
are a very popular treatment for acne. These
help to reduce inflammation, whilst
killing the bacteria. 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 (the ‘two month rule’).
For further information contact:
Acne Support Group,
PO Box 9, Newquay TR9 6WG
Reg. Charity No. 1026654.
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:
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:
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.
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. 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.
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), PO Box 36,
Milford Haven, Dyfed, SA73 3YF. Tel: 01646
695055.
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.
In addition to the above they may have:
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. Tel: 01242
261332 Reg. Charity no. 1089135 Email:
diana@ectodermaldysplasia.org
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.
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,
cobalt, rubber, formaldehyde, colophony,
acrylates, epoxy, fragrances, plants, hair
perm solutions, hair bleaching preparations,
flour and garlic. 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 cyclosporin, 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. Tacrolimus is
licenced for patients who do not respond
adequately to topical corticosteroids. Pimecrolimus
is used to try and prevent flares.
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: 020 7281 3553 Fax: 020 7281 6395
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 335,
Farnham, GU10 1XJ.
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.
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, Dukes Ride, Crowthorne, Berkshire,
RG45 6LS.
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 Blackpool and
Weymouth for people with the condition.
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
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.
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.
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.
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 Caesarian 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
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.
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, 207 Fernhill Road,
Bootle, Merseyside, L20 0AG.
Aneurocutaneous syndrome
of streaky, patchy, whorl-like, or linear
macular hypopigmentation of the skin, often
associated with seizures, developmental
and intellectual retardation, and other
anomalies. Dr Ito first wrote in a Japanese
medical journal in 1952 about some patients
he had seen who had a pattern of skin markings
in a V shape over the spine and in lines
down the arms and legs. Over the years other
doctors have written in medical journals
describing one or two patients with the
same skin markings. Some of the patients
have had problems with development. Until
recently no one knew the cause of Ito’s
disease but the results of research carried
out in Manchester have been confirmed by
other studies in the USA.
Differential Diagnosis:
Ectodermal Dysplasias, especially Naegeli
Type; Incontinentia Pigmenti (Bloch-Sulzberger
Syndrome); Systematized Nevus Depigmentosus;
Tuberous Sclerosis; carbohydrate-deficient
glycoprotein deficiency Type III.
Causes
The body is made up of millions of cells
usually each one has the same genetic instructions
as each other (chromosomes and genes). In
Ito’s disease there are two groups of cells,
one with one set of genetic instructions
and another with a slightly different set
of instructions. It is the upset in “balance”
between the two sets, which causes the problem.
In the type with the
extra chromosomes, usually the egg and the
sperm are normal when they join together.
The fertilised egg then divides and it is
at this division or one of the following
divisions that the chromosomes do not divide
equally giving rise to a set of cells with
an extra chromosome.
In the type with the
gene variation the egg and sperm contain
normal gene instructions and when the fertilised
egg divides a gene fault occurs in one of
the cells and thereafter all the cells resulting
from that cell contain the faulty gene.
The above problems
just happen by chance and are not caused
by anything the parents have done and are
not usually inherited.
Symptoms
These include asymmetry of the body, patchy
pigmentation which can occur on any part
of the body, but not normally the palms,
scalp or soles of the feet. Gross motor
and psychomotor retardation, epilepsy, scoliosis,
dental and bone anomalies, unusual ophthalmic
features and kidney problems, amongst others.
How a child is affected depends partly on
the particular chromosome or gene fault
and partly on how many cells contain the
fault. The sort of problems children with
Ito’s disease have can be divided into two
types: Physical and Developmental. Not all
children have all of the problems.
Physical problems
These include problems obvious at birth
such as unusual shape of joints, extra fingers,
etc. Many children with Ito’s disease have
more growth on one side of the body than
the other making them a little asymmetrical.
The skin patterns are usually first noted
when a child is a few months old.
Developmental problems
Some children with Ito’s disease make very
good progress and others are slow with their
development. There is no way other than
careful follow-up to predict how a particular
child will develop. Even those children
with problems with development do continue
to grow and make progress although slower
than other children. Extra help in nursery
and school may be necessary.
Treatments Since there is no cure for Ito’s disease,
treatment has to be symptomatic. Epilepsy
is treated with drugs (or occasionally surgery);
Behavioural difficulties (including hyperactivity
and autistic features) are often the most
troublesome for families and frequently
require appropriate intervention. Scoliosis
(curvature of the spine) can be helped by
the wearing of a brace and in some cases
surgery. There is no treatment for the depigmentation
markings of the skin
For further information contact:
HITS (UK) Family Support Network (supporting
families affected by the Hypomelanosis of
Ito Syndrome) National Contact: Sandra Field
33 Fernworthy Close, Shiphay, Torquay, Devon
TQ2 7JQ Tel: 01803 401018
London Contact: Terri Grant 07940 114943
Helpline Tuesday evenings 7-9 p.m. only
(UK) time 020 8352 1824 Email: tgrant@uk.ey.com
or tgrant@hitsuk.freeserve.co.uk
