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Epidermolysis bullosa (hands)

Case contributed by Dalia Ibrahim
Diagnosis almost certain


Rare chronic inherited skin disorder

Patient Data

Age: 10-year-old
Gender: Male

Bilateral contracture deformities with claw-hand appearance.

Distal phalangeal bone resorption with pointed ends.

Soft tissue webbing between the fingers.


Case Discussion

Epidermolysis bullosa refers to a rare group of genetically determined conditions characterized by blistering of the skin. This can be limitted to the soles and palms or extensive whole body involvement. 

It affects many separate organ systems.

Musculoskeletal manifestations in hands include: Hand contractures,webbed fingers and distal phalangeal resorption.

Radiological manifestations are limited to the mucosa of the gastrointestinal tract, and predominantly the esophagus with the formation of submucosal bullae acutely and chronically esophageal webs.

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