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recessive dystrophic epidermolysis bullosa

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
Uniprot Description A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens type, to mild forms with limited localized scarring and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata.
Mondo Term and Equivalent IDs
MONDO:0009179:  recessive dystrophic epidermolysis bullosa
GARD:0006308: 
Orphanet:79408: 
SCTID:48528004: