Epidermolysis bullosa refers to a rare group of genetically determined conditions characterized by blistering of the skin. This can be limited to the soles and palms or extensive whole body involvement. Mutations in more than 20 different genes have been reported that contribute to the disease's pathophysiology 3.
Epidemiology
Mild disease is observed in 1 in every 50,000 births, whilst severe disease is around 10 times rarer, affecting roughly 1 in every 500,000 individuals 4.
Radiographic features
Gastrointestinal manifestations:
- limited to the mucosa of the gastrointestinal tract, and predominantly the esophagus with the formation of submucosal bullae acutely and chronically esophageal webs
Urogenital manifestations 2:
- scarring of the penis glans or the vaginal vestibule with associated urethral strictures can lead to urinary outflow tract obstruct and consequent hydroureter and hydronephrosis
Musculoskeletal manifestations 2:
- blistering and scarring may also cause fusion of fingers and toes
- acro-osteolysis
- contractures involving multiple joints
- muscular dystrophy
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