Epidermolysis Bullosa Simplex - Subtypes

Subtypes

Epidermolysis bullosa simplex may be divided into multiple types:

OMIM Name Locus Gene
609352 epidermolysis bullosa simplex with migratory circinate erythema 12q13 KRT5
131960 epidermolysis bullosa simplex with mottled pigmentation; EBS-MP 12q13 KRT5
601001 epidermolysis bullosa simplex, autosomal recessive 17q12-q21 KRT14
131900 epidermolysis bullosa simplex, Koebner type; EBS2 17q12-q21, 12q13 KRT5, KRT14
131800 epidermolysis bullosa simplex, Weber-Cockayne type 17q12-q21, 17q11-qter, 12q13 KRT5, KRT14
131760 epidermolysis bullosa herpetiformis, Dowling-Meara type 17q12-q21, 12q13 KRT5, KRT14
226670 epidermolysis bullosa simplex with muscular dystrophy 8q24 PLEC1
612138 epidermolysis bullosa simplex with pyloric atresia 8q24 PLEC1
131950 epidermolysis bullosa simplex, Ogna type 8q24 PLEC1

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