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Epidermolysis bullosa pruriginosa, autosomal recessive

MedGen UID:
339894
•Concept ID:
C1853063
•
Finding
Synonym: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
 
OMIM®: 120120

Recent clinical studies

Diagnosis

Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features.
McGrath JA, Schofield OM, Eady RA
Br J Dermatol 1994 May;130(5):617-25. doi: 10.1111/j.1365-2133.1994.tb13109.x. PMID: 8204470

Prognosis

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA
Pediatr Dermatol 2012 Nov-Dec;29(6):725-31. Epub 2012 Apr 20 doi: 10.1111/j.1525-1470.2012.01757.x. PMID: 22515571Free PMC Article

Clinical prediction guides

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA
Pediatr Dermatol 2012 Nov-Dec;29(6):725-31. Epub 2012 Apr 20 doi: 10.1111/j.1525-1470.2012.01757.x. PMID: 22515571Free PMC Article

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