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“Nails Only” Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex
Author(s) -
GonzálezCantero Álvaro,
SánchezMoya Ana Isabel,
PérezHortet Cristina,
MartínezLorenzo Elena,
GómezDorado Blas,
SchoendorffOrtega Cristina
Publication year - 2017
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13146
Subject(s) - epidermolysis bullosa simplex , epidermolysis bullosa , medicine , phenotype , dermatology , mutation , dominance (genetics) , keratin 5 , pathology , genetics , gene , biology , keratin
Epidermolysis bullosa ( EB ) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails‐only phenotype in two patients with epidermolysis bullosa simplex ( EBS ) and a heterozygous pG lu170Lys mutation and the second reported case of EBS associated with a homozygous p.Glu170Lys mutation in the KRT5 gene. Our findings may be relevant for genetic counseling and for understanding the inheritance pattern of EBS .