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

Authors :: Kumagai, Y.
Umegaki ‐ Arao, N.
Sasaki, T.
Nakamura, Y.
Takahashi, H.
Ashida, A.
Tsunemi, Y.
Kawashima, M.
Shimizu, A.
Ishiko, A.
Nakamura, K.
Tsuchihashi, H.
Amagai, M.
Kubo, A.
Source :: Journal of the European Academy of Dermatology & Venereology; May2017, Vol. 31 Issue 5, pe241-e243, 3p
Publication Year :: 2017
Abstract: The article presents case studies of epidermolysis bullosa simplex (EBS) with infantile migratory circinate erythema. It mentions identification of heterozygous frameshift mutations in the V2 domain of Keratin 5 (KRT5). It also reveals that a 3-year-old male developed blisters after birth and displayed circinate oedematous pruritic erythema.

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