" /> Epidermolysis bullosa simplex with muscular dystrophy - CISMeF





Preferred Label : Epidermolysis bullosa simplex with muscular dystrophy;

ICD-11 definition : Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is an autosomal recessive basal subtype of EBS due to mutations the PLEC gene encoding plectin. It is characterized by generalised blistering associated with muscular dystrophy.;

ICD-11 synonym : EBS-MD - [epidermolysis bullosa simplex with muscular dystrophy] (MIM 226670); Epidermolysis bullosa simplex with limb-girdle muscular dystrophy; EBS with muscular dystrophy; EBS - [epidermolysis bullosa simplex] with muscular dystrophy; EBS-MD - [epidermolysis bullosa simplex with muscular dystrophy];

ICD-11 acronym : EBS-MD;

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Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is an autosomal recessive basal subtype of EBS due to mutations the PLEC gene encoding plectin. It is characterized by generalised blistering associated with muscular dystrophy.

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07/05/2025


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