title: A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
abstract: Bullous congenital ichthyosiform erythroderma (BCIE) is an autosomally dominant inherited disorder characterized by erythematous, erosive, and bullous skin lesions over the entire body at birth and abnormal hyperkeratosis on the palmoplantar sufaces as the patient grows older. BCIE is caused by a mutation in the keratin 1 (K1) and/or keratin 10 (K10) genes, and most pathogenic mutations are found within the helix initiation and termination motifs of the central helical rod domain (K1 and K10) or the upstream H1 homology domain (K10). In addition to inherited cases, sporadic cases due to a new mutation account for approximately half the total cases of BCIE. We report herein a typical sporadic case of BCIE with erythroderma, erosion, and blisters on the entire body surface at birth and palmoplantar and flexuaral areas of hyperkeratosis in the later stage. We found in this case a novel mutation, 559C to T, at amino acid position 187, which resulted in a leucine to phenylalanine substitution within the helix initiation motif of K1.
authors.affiliation: Department of Dermatology, School of Medicine, University of the Ryukyus, Okinawa, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Uezato
authors.forename: Yu-Ichi
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Chojiro
authors.initials: C
authors.lastname: Kuwae
authors.forename: Kimiko
authors.initials: K
authors.lastname: Nonaka
authors.forename: Minoru
authors.initials: M
authors.lastname: Oshiro
authors.forename: Ken-Ichi
authors.initials: K
authors.lastname: Kariya
authors.forename: Shigeo
authors.initials: S
authors.lastname: Nonaka
mesh_terms: D019943:Amino Acid Substitution; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D053556:Keratin-1; D007633:Keratins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012867:Skin / Q000473:pathology
chemical_list: C491616:KRT1 protein, human; D053556:Keratin-1; D007633:Keratins