Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive (EBS5D)

Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive, also known as epidermolysis bullosa simplex with nail dystrophy, is related to pyloric atresia and muscular dystrophy, limb-girdle, autosomal recessive 17. An important gene associated with Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive is PLEC (Plectin). Affiliated tissues include skin and heart, and related phenotypes are pruritus and abnormal blistering of the skin