Epidermolysis bullosa, junksjonal
Engelsk navn: Intermediate generalized junctional epidermolysis bullosa
Engelske synonym: Generalized atrophic benign epidermolysis bullosa,Generalized junctional epidermolysis bullosa, non-Herlitz type,Intermediate generalized JEB,Junctional epidermolysis bullosa generalisata mitis,Junctional epidermolysis bullosa, Disentis type
A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.
Informasjon
Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.
ORPHA: 79402
Klassifiseringsnivå: DisorderICD-10: Q81.8