title: Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys.
abstract: Epidermolysis bullosa (EB) is a group of hereditary autosomal dominant bullous diseases. EB is divided into four major phenotypes: intraepidermal EB (or EB simplex), junctional EB, dermolytic EB and mixed EB (Kindler syndrome). EB simplex is further divided into three subtypes: localized EB simplex, Dowling-Meara EB simplex and other generalized EB simplex. We report a 28-year-old man with EB simplex with a missense keratin 14 mutation p.Arg125Cys associated with clumping of keratin filaments and acantholysis in mainly the spinous cells and basal cells. Immunohistochemistry revealed that the broader expression of keratin 5 and 14 was observed in the epidermis, while the expression of keratin 1/10 was quite normal. Dysregulated expression of keratin 5/14 may hinder some functions or roles of keratin 1/10, namely filament assembly of keratin 1/10 in spinous cell integrity, although the expression of keratin 1/10 was not affected and this has not been demonstrated before.
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan. tsuruta_daisuke@med.kurume-u.ac.jp
authors.forename: Daisuke
authors.initials: D
authors.lastname: Tsuruta
authors.forename: Junko
authors.initials: J
authors.lastname: Sowa
authors.forename: Chiharu
authors.initials: C
authors.lastname: Tateishi
authors.forename: Yuko
authors.initials: Y
authors.lastname: Obase
authors.forename: Airo
authors.initials: A
authors.lastname: Tsubura
authors.forename: Takaya
authors.initials: T
authors.lastname: Fukumoto
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Ishii
authors.forename: Hiromi
authors.initials: H
authors.lastname: Kobayashi
authors.forename: Sachiko
authors.initials: S
authors.lastname: Sakaguchi
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hamada
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D015870:Gene Expression; D006801:Humans; D053547:Keratin-14 / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense
chemical_list: C507540:KRT14 protein, human; D053547:Keratin-14