Epidermolysis bullosa (hands)

Case contributed by Dr Dalia Ibrahim


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 characterised 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 oesophagus with the formation of submucosal bullae acutely and chronically oesophageal webs.

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Case information

rID: 28688
Published: 7th Apr 2014
Last edited: 16th Jul 2018
Inclusion in quiz mode: Included

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