A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.
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.
Saeki
Hidehisa
H
Department of Dermatology, Faculty of Medicine, University of Tokyo, Japan.
Hattori
Naoko
N
Mitsui
Hiroshi
H
Adachi
Makoto
M
Imakado
Sumihisa
S
Ishibashi
Yasumasa
Y
Tamaki
Kunihiko
K
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
C507493:KRT10 protein, human; D053550:Keratin-10; D007633:Keratins