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, ss.358-361, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 37 Konu: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1111/pde.14087
  • Dergi Adı: PEDIATRIC DERMATOLOGY
  • Sayfa Sayıları: ss.358-361

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.