A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

YALICI ARMAĞAN, BAŞAK; Kabacam, Serkan; TAŞKIRAN, ZİHNİ; GÖKÖZ, ÖZAY; ÜTİNE, GÜLEN; ERSOY EVANS, SİBEL

doi:10.1111/pde.14087

A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema

YALICI ARMAĞAN B., Kabacam S., TAŞKIRAN Z. E., GÖKÖZ Ö., ÜTİNE G. E., ERSOY EVANS S.

PEDIATRIC DERMATOLOGY, cilt.37, sa.2, ss.358-361, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 37 Sayı: 2
Basım Tarihi: 2020
Doi Numarası: 10.1111/pde.14087
Dergi Adı: PEDIATRIC DERMATOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE
Sayfa Sayıları: ss.358-361
Hacettepe Üniversitesi Adresli: Evet

Özet

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.