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Epidermolysis bullosa simplex with muscular dystrophy

ORPHA:257· ICD-10 Q81.0

Definition

A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal