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
Definisjon
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.
Fra Orphanet
ORPHA: 79402
Klassifiseringsnivå: Disorder
ICD-10: Q81.8
Mer informasjon
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