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Bullous epidermolysis

Epidermolysis bullosa (EB) corresponds to a group of rare and disabling genetic diseases characterized by the appearance of blisters and lesions on the skin and in the inner mucous membranes, which can develop spontaneously or due to even very mild rubbing.

EB is also known as “butterfly baby syndrome,” referring to the extreme fragility of patients, which resembles that of butterfly wings.

Worldwide, epidermolysis bullosa affects about 1 in every 17,000 children born, or about 500,000 people; in Italy, the incidence is lower, with about one affected child in every 82,000 births, for a total of about 1,500 patients nationwide.

EB is an extremely clinically complex group of diseases with profound psychological implications for both the patient and family members; EB can manifest in three main forms: simple (or epidermolytic); junctional; and dystrophic (or dermolytic).
When present in a mild form, epidermolysis bullosa can still allow a normal existence, while the more severe forms can be fatal even in the neonatal or intrauterine period.

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