Epidermolysis bullosa (EB) pruriginosa associated with recessive homozygous mutations in COL7A1: case report of a rare EB genotype-phenotype

J Eur Acad Dermatol Venereol. 2020 Sep;34(9):e501-e504. doi: 10.1111/jdv.16418. Epub 2020 May 6.

Authors

C O'Connor¹, C Heffron², J McGrath³, S O'Shea¹, J Bourke¹

Affiliations

¹ Department of Dermatology, South Infirmary Victoria University Hospital, Cork, Ireland.
² Department of Pathology, Cork University Hospital, Cork, Ireland.
³ National Diagnostic Epidermolysis Bullosa Laboratory, Guy's Hospital, London, UK.

PMID: 32250485
DOI: 10.1111/jdv.16418

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Collagen Type VII / genetics
Epidermolysis Bullosa Dystrophica* / genetics
Epidermolysis Bullosa* / genetics
Genotype
Humans
Mutation
Pedigree
Phenotype

Substances

COL7A1 protein, human
Collagen Type VII