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Recessive dystrophic epidermolysis bullosa
rareSevere 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.
- Identifiers
- MONDO:0009179 OMIM:226600Orphanet:79408
- Also known as
- autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type · autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) · EBD inversa · epidermolysis bullosa dystrophica, AR
Subtypes
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