title: Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kumagai
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Umegaki-Arao
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.|KOSE Endowed Program for Skin Care and Allergy Prevention, Keio University School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.affiliation: Department of Dermatology, Shinshu University School of Medicine, Nagano, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ashida
authors.affiliation: Department of Dermatology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tsunemi
authors.affiliation: Department of Dermatology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kawashima
authors.affiliation: Department of Dermatology, School of Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Shimizu
authors.affiliation: Department of Dermatology, School of Medicine, Faculty of Medicine, Toho University, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ishiko
authors.affiliation: Department of Dermatology, Saitama Medical University, Saitama, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Nakamura
authors.affiliation: Department of Dermatology, Saitama Medical University, Saitama, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tsuchihashi
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.|KOSE Endowed Program for Skin Care and Allergy Prevention, Keio University School of Medicine, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Amagai
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kubo
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004890:Erythema / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D053555:Keratin-5 / Q000235:genetics* / Q000378:metabolism; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5; D004247:DNA