Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.
Epidermolysis bullosa with unusually severe clinical features was associated with progressive muscular dystrophy in two siblings. Light and electron microscopic examination revealed an intraepidermal cleavage confirming that this mechanobullous disease belonged to the epidermolysis bullosa simplex group. This may represent a new disease entity inherited in an autosomal-recessive fashion.
Niemi
K M
KM
Department of Dermatology, University of Helsinki, Finland.
Sommer
H
H
Kero
M
M
Kanerva
L
L
Haltia
M
M
D000293:Adolescent; D000328:Adult; D004820:Epidermolysis Bullosa / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics; D009264:Nails, Malformed / Q000235:genetics; D010375:Pedigree