"BUTTERFLY-SKIN BABIES...MAY PAG-ASA PA KAYA

Epidermolysis bullosa is a group of genetic 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. 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.

Usual onset:
At birth

Duration
Often lifelong

Causes:
Genetic

Diagnostic method
Skin biopsy, genetic testing
Differential diagnosis
Bullous pemphigoid, pemphigus vulgaris, friction blisters

Treatment
Wound care, pain control, controlling infections, nutritional support

EB is due to a mutation in at least one of 18 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. There are four main types: epidermolysis bullosa simplex, dystrophic epidermolysis bullosa, junctional epidermolysis bullosa, 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.Children who are affected may be bullied by other children or experience inappropriate comments from adults

Epidermolysis bullosa can be diagnosed either by a skin (punch) biopsy at the edge of a wound with immunofluorescent mapping, or via blood sample and genetic testing.