Epidermolysis Bullosa
Anatomy & Physiology
8 November, 2013
Epidermolysis Bullosa is a group of inherited disorders in which skin blisters develop in response to
minor injury. This condition is an inherited connective tissue disease causing blisters in the skin and
mucosal membranes, with an incidence of 1/50,000. It is caused by a mutation in the keratin or collagen
gene. People with this condition have an increased risk of skin cancer, and many will eventually be
diagnosed with it as a complication of the chronic damage done to the skin (medicalnewstoday.com).
There are four main types of epidermolysis bullosa: Dystrophic epidermolysis bullosa, Epidermolysis
bullosa simplex, Hemidesmosomal epidermolysis bullosa, and Junctional epidermolysis
bullosa. Symptoms depend on the type of epidermolysis bullosa, but all include blistering and extremely
sensitive skin. It is important to understand the causes and affects of E.B because it is a rare disease,
that not many even know about.
The normal human skin has two layers - the epidermis (outer part) and the dermis (inner part). Most of
us have protein anchors in between the layers, made of collagen; they prevent the two layers from
shearing - moving independently from one another. People with EB lack these protein anchors, so when
there is any friction on the skin, the two layers rub against each other and separate, resulting in painful
sores and blisters. Its severity ranges from mild to lethal. Most, if not all cases are hereditary. EB affects
both males and females equally, as well as all ethnic groups. EB is an autosomal recessive condition.
This means both parents are healthy carriers. Healthy carriers are non-symptomatic and will never
develop the illness. When each parent has a copy of the altered gene, there is a 25% or 1 in 4 chance the
child will be affected by EB. Unfortunately, there is no test to detect carriers for EB. Parents are made
aware that they are carriers after the child is born. EB is incurable and treatment focuses on relieving the
symptoms of pain, infection risk and some other potential complications.
Butterfly children, referred to this since their skin is as fragile as a butterfly's, struggle with everyday
life. Signs and symptoms of EB often become prevalent during infancy. These include extremely
sensitive skin and blisters. EB can be identified by genetic testing, a skin biopsy, and checking the skin
sample under a microscope. Other tests are run including blood tests for anemia, culture to check for
bacterial infection if wounds heal poorly, and upper endoscopy or an upper GI series for feeding/
swallowing difficulties. Affects on the body include Alopecia (hair loss), blisters aound the eyes and nose,
blisters in or around the mouth and throat, causing feeding problems or swallowing difficulty, blisters on
the skin as a result of minor injury or temperature change, blistering that is present at birth, dental
problems such as tooth decay, hoarse cry, cough, or other breathing problems, milia (tiny white bumps or
pimples), and nail loss or deformed nails, breathing/ eating difficulties, contracture deformities primarily on
the knees, elbows, and fingers, restricted mobility, and scarring (niams.nih.gov).
Epidermolysis Bullosa's severity ranges from mild to lethal. Most, if not all, cases include sensitive
skin and blistering. Blistering can be prevented by avoiding extreme temperatures, using lotion, wearing
soft clothing, and using specific steroids (niams.nih.gov). There is no cure to EB, so most courses of
treatment include using a soaking solution, antibiotic ointment, oral antibiotic to reduce growth of bacteria.
Most doctors recommend taking extra care of the skin and teeth, taking oral steroids, and keeping up with
proper nutrition (health.nytimes.com). EB mostly affects infants and toddlers. With age, the disease
becomes less severe. This infection is most fatal during infancy, by affecting the mouth and esophagus,
and preventing eating. Severe cases may need surgery, feeding tubes, and the fingers and toes may fuse
together (niams.nih.gov). In it mildest form the blistering is confined to hands and feet. In its severest form
the whole body is affected, wounds heal extremely slowly, there is significant scarring, physical deformity
and disability. In its severest form EB is fatal in infancy. People with severe EB have a significantly high
risk of developing skin cancers.
EB is an unfortunate disease effecting a very small amount of children each year. So few, that the
government will not sponsor funding for medical research for a cure or medication. EB us a painful
disease in where there is no buffer between the two skin layers, causing blisters and breaks in the skin.