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Epidermolysis bullosa simplex with muscular dystrophy

What is Epidermolysis bullosa simplex with muscular dystrophy?

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

Other condition names

  • EBS-MD
  • Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.