title: A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.
abstract: We described a 19-year old Japanese female with bullous congenital ichthyosiform erythroderma (BCIE) and examined the keratin gene mutation. Physical examination disclosed generalized erythema, ichthyosiform skin with scales, and erosions without palmoplantar keratoderma. Histological examination revealed hyperkeratosis with vacuolar degeneration in the granular layer of the epidermis. Sequence analysis demonstrated a C to G transition at the first position of codon 156 in the keratin 10 gene. The amino acid at codon 156 was deduced to have changed from arginine to cystine. Substitution from arginine to cysteine at codon 156 of the K 10 gene is assumed to be fatal for keratin filament assembly regardless of racial or ethnic difference.
authors: Department of Dermatology, Faculty of Medicine, University of Tokyo, Japan.
authors: Hidehisa
authors: H
authors: Saeki
authors: Naoko
authors: N
authors: Hattori
authors: Hiroshi
authors: H
authors: Mitsui
authors: Makoto
authors: M
authors: Adachi
authors: Sumihisa
authors: S
authors: Imakado
authors: Yasumasa
authors: Y
authors: Ishibashi
authors: Kunihiko
authors: K
authors: Tamaki
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology; D053550:Keratin-10; D007633:Keratins / Q000235:genetics*; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012867:Skin / Q000473:pathology
chemical_list: C507493:KRT10 protein, human; D053550:Keratin-10; D007633:Keratins