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Epidermolysis bullosa pruriginosa, autosomal dominant

MedGen UID:
393882
•Concept ID:
C2675780
•
Finding
Synonym: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
 
OMIM®: 120120

Recent clinical studies

Diagnosis

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
Hale GI, Cohen MC, Quarrell OW, McGrath JA, Messenger AG
Pediatr Dev Pathol 2018 Nov-Dec;21(6):580-584. Epub 2018 Mar 4 doi: 10.1177/1093526618761497. PMID: 29504492
Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus.
Tey HL, Lee AD, Almaani N, McGrath JA, Mills KC, Yosipovitch G
Arch Dermatol 2011 Aug;147(8):956-60. doi: 10.1001/archdermatol.2011.189. PMID: 21844455
Epidermolysis bullosa pruriginosa: a rare autosomal dominant variant.
Das S, Roy AK, Kar C, Giri PP
J Indian Med Assoc 2007 Jul;105(7):388, 390. PMID: 18178992
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Ee HL, Liu L, Goh CL, McGrath JA
J Am Acad Dermatol 2007 May;56(5 Suppl):S77-81. doi: 10.1016/j.jaad.2006.10.017. PMID: 17434045
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 and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Ee HL, Liu L, Goh CL, McGrath JA
J Am Acad Dermatol 2007 May;56(5 Suppl):S77-81. doi: 10.1016/j.jaad.2006.10.017. PMID: 17434045

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
Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus.
Tey HL, Lee AD, Almaani N, McGrath JA, Mills KC, Yosipovitch G
Arch Dermatol 2011 Aug;147(8):956-60. doi: 10.1001/archdermatol.2011.189. PMID: 21844455
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Ee HL, Liu L, Goh CL, McGrath JA
J Am Acad Dermatol 2007 May;56(5 Suppl):S77-81. doi: 10.1016/j.jaad.2006.10.017. PMID: 17434045

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