Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.

Epidermolysis bullosa simplex (EBS) with migratory circinate erythema (EBS-Migr, MIM 609352) is a rare subtype of EBS, which shows annularly spreading erythema with blister formation and subsequent pigmentation in the inner healed lesions. A heterozygous mutation of c.1649delG in KRT5 has been reported as a specific mutation causing EBS-Migr.(1,2) However, the identical mutation has been reported to cause another rare subtype of EBS, EBS with mottled pigmentation (EBS-MP, MIM 131960).(3-5) Here, we present two familial cases of EBS showing migratory circinate erythema in infancy but mottled pigmentation in the later stages of the disease. This article is protected by copyright. All rights reserved.