The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology

J Eur Acad Dermatol Venereol. 2017 May;31(5):e251-e253. doi: 10.1111/jdv.14036. Epub 2016 Nov 20.

Authors

T Sugai¹, S Shinkuma¹, K Inafuku², S Takashima¹, T Nomura¹, Y Fujita¹, H Nakamura¹, H Shimizu¹

Affiliations

¹ Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Sapporo, 060-8638, Japan.
² Department of Dermatology, Kimitsu Chuo Hospital, 1010, Sakurai, Kisarazu, Chiba, 292-8535, Japan.

PMID: 27868258
DOI: 10.1111/jdv.14036

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
DNA / genetics*
DNA Mutational Analysis
Disease Progression
Epidermolysis Bullosa Simplex / diagnosis*
Epidermolysis Bullosa Simplex / genetics
Epidermolysis Bullosa Simplex / metabolism
Female
Humans
Infant
Keratin-5 / genetics*
Keratin-5 / metabolism
Male
Microscopy, Electron, Transmission
Mutation*
Pedigree
Phenotype
Skin / ultrastructure*

Substances

KRT5 protein, human
Keratin-5
DNA