John Libbey Eurotext

European Journal of Dermatology


A novel deletion mutation in the 2B domain of KRT5 in epidermolysis bullosa simplex with childhood-onset migratory circinate erythema Volume 28, numéro 1, January-February 2018


  • Figure 1
Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea

Epidermolysis bullosa simplex (EBS) with migratory circinate erythema (EBS-Migr) is a rare subtype of EBS characterized by generalized migratory circinate erythema with blisters and hyperpigmentation since birth [1]. Frameshift mutations in exon 9 of KRT5 (c.1649delG, c.1635delG, and c.1638_1641del-CATG), which affect the V2 domain and result in elongated keratin 5 (K5), have been reported specifically in patients with EBS-Migr [1-4]. Although immune responses to the aberrantly elongated K5 have [...]