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dystrophic epidermolysis bullosa pruriginosa

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.
Uniprot Description A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive.
Mondo Term and Equivalent IDs
MONDO:0011398:  dystrophic epidermolysis bullosa pruriginosa
MESH:C563192: 
Orphanet:89843: 
SCTID:403810008: 
UMLS:C1275114: