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A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema
Author(s) -
YaliciArmagan Basak,
Kabacam Serkan,
Taskiran Zihni Ekim,
Gököz Özay,
Utine Gülen Eda,
ErsoyEvans Sibel
Publication year - 2020
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.14087
Subject(s) - epidermolysis bullosa simplex , missense mutation , keratin 5 , frameshift mutation , mutation , exon , medicine , epidermolysis bullosa , keratin , genetics , dermatology , pathology , biology , gene
Epidermolysis bullosa simplex migratory circinate erythema (EBS‐Migr) is an uncommon subtype of EBS. We report a case of EBS‐MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous mutation in exon 2 (missense c.591C > A) of keratin 5. This novel pathogenic mutation in KRT5 expands the molecular spectrum of this rare subtype of EBS.