Epidermolysis bullosa
Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. Inherited EB is a rare disease with a prevalence in the United States of 8.2 per million live births. Those with mild cases may not develop symptoms until they start to crawl or walk. Complications may include esophageal narrowing, squamous cell skin cancer, and the need for amputations.
| Epidermolysis bullosa | |
|---|---|
| Other names | Butterfly children |
| A five-year-old boy with epidermolysis bullosa | |
| Specialty | Dermatology |
| Symptoms | Painful skin blisters |
| Complications | Esophageal narrowing, squamous cell skin cancer, amputations |
| Usual onset | At birth |
| Duration | Often lifelong |
| Types | Epidermolysis bullosa simplex, dystrophic epidermolysis bullosa, junctional epidermolysis bullosa, Kindler syndrome |
| Causes | Genetic |
| Diagnostic method | Skin biopsy, genetic testing |
| Differential diagnosis | Bullous pemphigoid, pemphigus vulgaris, friction blisters, insect bites |
| Treatment | Wound care, pain control, controlling infections, nutritional support |
| Prognosis | Death usually occurs during early adulthood |
| Frequency | around 1 in 500,000 |
EB is due to a mutation in at least one of 16 different genes. Some types are autosomal dominant while others are autosomal recessive. The underlying mechanism is a defect in attachment between or within the layers of the skin. Loss or diminished function of type VII collagen leads to weakness in the structural architecture of the dermal–epidermal junction (DEJ) and mucosal membranes. There are four main types: epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB), and Kindler syndrome. The diagnosis is suspected based on symptoms and confirmed by skin biopsy or genetic testing.
There is no cure for the condition. Management involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications. About half a million people are affected globally. It occurs equally commonly in males and females.