Epidermolysis bullosa
Definition
:
Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LO-sah) is a group of
skin conditions whose hallmark is blistering in response to minor
injury, heat, or friction from rubbing, scratching or adhesive tape.
Four main types of epidermolysis bullosa exist, with numerous subtypes.
Most are inherited.
Most types of epidermolysis bullosa initially affect infants and young
children, although some people with mild forms of the condition don't
develop signs and symptoms until adolescence or early adulthood. Mild
forms of epidermolysis bullosa may improve with age, but severe forms
may cause serious complications and can be fatal.
There's currently no cure for epidermolysis bullosa. For now, treatment
focuses on addressing the symptoms, including pain prevention, wound
prevention, infection and severe itching that occurs with continuous
wound healing.
Symptoms:
The primary indication of epidermolysis bullosa is the eruption of
fluid-filled blisters (bullae) on the skin, most commonly on the hands
and feet in response to friction. Blisters of epidermolysis bullosa
typically develop in various areas, depending on the type. In mild
cases, blisters heal without scarring.
Signs and symptoms of epidermolysis bullosa may include:
- Blistering of your skin — how widespread and severe depends on the type
- Deformity or loss of fingernails and toenails
- Internal blistering, including on the throat, esophagus, upper airway, stomach, intestines and urinary tract
- Skin thickening on palms and soles of the feet (hyperkeratosis)
- Scalp blistering, scarring and hair loss (scarring alopecia)
- Thin-appearing skin (atrophic scarring)
- Tiny white skin bumps or pimples (milia)
- Dental abnormalities, such as tooth decay from poorly formed tooth enamel
- Excessive sweating
- Difficulty swallowing (dysphagia)
When to see a doctor
Contact your doctor promptly if you or your child develops blisters, particularly if there's no apparent reason for them.
In some cases of epidermolysis bullosa, blistering may not appear until a
toddler first begins to walk, or until an older child begins new
physical activities that trigger more intense friction on the feet.
Call your doctor immediately if you or your child experiences problems swallowing or breathing.
Also seek immediate care if you or your child has been diagnosed with
epidermolysis bullosa and develops signs of an infection around an open
area of skin, including:
- Redness, heat or pain
- Pus or a yellow discharge
- Crusting
- A red line or streak under the skin, spreading outward from the wound
- A wound that does not heal
- Fever or chills
Blisters can lead to infection and deformity. Your doctor can show you
how to care for them properly and advise you on ways to prevent
them
Causes:
In most cases, epidermolysis bullosa is inherited. Researchers have
identified more than 10 genes involved with skin formation that, if
defective, may cause a type of epidermolysis bullosa. It's also possible
to develop epidermolysis bullosa as a result of a random mutation in a
gene that occurred during the formation of an egg or sperm cell.
Your skin comprises an outer layer (epidermis) and an underlying layer
(dermis). The area where the layers meet is called the basement membrane
zone. Where and when blisters develop depend on the type of
epidermolysis bullosa.
The four main types of this condition are:
-
Epidermolysis bullosa simplex. This most common and
generally mildest form usually begins at birth or during early infancy.
In some people, mainly the palms of the hands and soles of the feet are
affected. In epidermolysis bullosa simplex, the faulty genes are those
involved in the production of keratin, a fibrous protein in the top
layer of skin. The condition causes the skin to split in the epidermis,
which produces blisters, usually without scar formation.
If you have epidermolysis bullosa simplex, it's likely you inherited a
single copy of the defective gene from one of your parents (autosomal
dominant inheritance pattern). If one parent has the single faulty gene,
there's a 50 percent chance that each of his or her offspring will have
the defect.
-
Junctional epidermolysis bullosa. This usually severe
type of the disorder generally becomes apparent at birth. In junctional
epidermolysis bullosa, the faulty genes are involved in the formation of
thread-like fibers (hemidesmosomes) that attach your epidermis to your
basement membrane. This gene defect causes tissue separation and
blistering in your basement membrane zone.
Junctional epidermolysis bullosa is the result of both parents carrying
one copy of the defective gene and passing on the defective gene
(autosomal recessive inheritance pattern), although neither parent may
clinically have the disorder (silent mutation). If both parents carry
one faulty gene, there's a 25 percent chance each of their offspring
will inherit two defective genes — one from each parent — and develop
the disorder.
- Dystrophic epidermolysis bullosa. This type, whose
subtypes range from mild to severe, generally becomes apparent at birth
or during early childhood. In dystrophic epidermolysis bullosa, the
faulty genes are involved in the production of a type of collagen, a
strong protein in the fibers that hold the deepest, toughest layer of
your skin together. As a result, the fibers are either missing or
nonfunctional. Dystrophic epidermolysis bullosa can be either dominant
or recessive.
Epidermolysis bullosa acquisita (EBA) is another rare
type of epidermolysis bullosa, which isn't inherited. Blistering
associated with this condition occurs as the result of the immune system
mistakenly attacking healthy tissue. It's similar to a condition called
bullous pemphigoid, which also is related to an immune system disorder.
EBA has been associated with Crohn's disease, an inflammatory bowel
disease.
Complications:
In its more-severe forms, epidermolysis bullosa can have serious
complications and can be fatal. Possible complications include:
- Secondary skin infection. Blistering can leave skin
vulnerable to bacterial infection, particularly staph infection, and
increase your chances for sepsis.
- Sepsis. Sepsis occurs when bacteria from a massive
infection enter your bloodstream and spread throughout your body. Sepsis
is a rapidly progressing, life-threatening condition that can cause
shock and organ failure.
- Deformities. Severe forms of epidermolysis bullosa
can cause fusion of fingers or toes and abnormal bending of joints
(contractures), such as fingers, knees and elbows. Special bandaging
wrapped between the fingers is often used to protect the fingers and
prevent this complication.
- Malnutrition. If you or your child has a form of
epidermolysis bullosa that causes blistering of the mouth and other
mucous membranes, eating may be difficult. The resulting malnutrition
can inhibit normal growth. Children with severe epidermolysis bullosa
often improve with placement of a feeding tube (gastrostomy tube) so
that they can receive supplemental nutrition.
- Anemia. Continuous loss of blood from open sores
and possibly inability to take in adequate nutrition may contribute to
iron deficiency anemia, but the true cause is unknown.
- Eye disorders. Inflammation in the mucous membrane
(conjunctiva) that lines your eyelids and part of your eyeballs can lead
to erosion of the transparent, dome-shaped surface of your eyes
(cornea) and, sometimes, blindness.
- Skin cancer. As adolescents and adults, people with
certain types of epidermolysis bullosa are at high risk of developing a
type of skin cancer known as squamous cell carcinoma.
- Death. Infants who have a lethal form of junctional
epidermolysis bullosa are at high risk of infections and loss of body
fluids from widespread blistering. Their survival also may be threatened
because of blistering of internal organs, which may hamper their
ability to get enough nourishment and, sometimes, to breathe. Many of
these infants die in childhood. Milder forms of epidermolysis bullosa,
however, may not affect life expectancy.
- Constricted esophagus. A continuous cycle of
blistering and scarring may cause narrowing in the esophagus, making it
difficult to swallow. Surgical dilatation of the esophagus can relieve
this and make it easier for food to travel from your mouth to your
stomach.
- Hoarse voice. Blisters and scarring in the throat and esophagus may cause a hoarse voice or hoarse-sounding cry in babies.
Treatments and drugs:
Treatment of epidermolysis bullosa aims mainly at preventing complications and easing discomfort from blistering.
Skin care
Blisters may be large and, once broken, susceptible to
infection and fluid loss. Your doctor may recommend the following tips
for treating blisters and raw skin:
- Puncture blisters with a sterile needle to prevent
the blister from spreading further. Leaving the roof of the blister
intact allows for drainage of the blister while protecting the
underlying skin.
- Apply antibiotic ointment, petroleum jelly or other moisturizing substance before applying a special nonsticking bandage.
- Soak wounds with a disinfectant solution. For
wounds that don't heal, infection with bacteria such as pseudomonas may
be playing a role. Soaks with diluted vinegar solution are sometimes
used as a disinfectant, starting with a low enough concentration that
the solution doesn't sting but is still helpful to remove germs.
Surgery
Ideally, deformities and fusion of the hands and feet can be
prevented with daily protective wrapping. However, repeated blistering
and scarring can cause deformities, such as fusing of the fingers or
toes or abnormal bends in the joints (contractures). Your doctor may
recommend surgery to correct these deformities, particularly if they
interfere with normal motion.
Blistering and scarring of the esophagus may lead to esophageal
narrowing, making eating difficult. Surgery to widen (dilate) the
esophagus may be needed. Using light sedation, the surgeon positions a
small balloon in the esophagus and inflates it to dilate the area.
To improve nutrition and help with weight gain, a tube (gastrostomy
tube) may be implanted to deliver food directly to the stomach. Feedings
through the tube may be delivered overnight using a pump. Eating
through the mouth is continued if possible so that the child will be
able to eat with others for normal socializing.
Physical therapy
Working with a physical therapist can help ease the limitations
on motion caused by scarring and shortening of the skin (contracture).
Swimming may be helpful for many people.
Intensive studies are under way to find better ways to treat and relieve
the symptoms of epidermolysis bullosa, including gene replacement, bone
marrow transplantation and recombinant protein therapies.