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pretibial dystrophic epidermolysis bullosa

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.
Uniprot Description A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0007552:  pretibial dystrophic epidermolysis bullosa
GARD:0002155: 
MESH:C535494: 
Orphanet:79410: 
SCTID:67653003: