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 re...

Full description

Saved in:
Bibliographic Details
Published inJournal of dermatology Vol. 29; no. 3; p. 168
Main Authors Saeki, Hidehisa, Hattori, Naoko, Mitsui, Hiroshi, Adachi, Makoto, Imakado, Sumihisa, Ishibashi, Yasumasa, Tamaki, Kunihiko
Format Journal Article
LanguageEnglish
Published England 01.03.2002
Subjects
Adult
Amino Acid Substitution
Female
Humans
Hyperkeratosis, Epidermolytic - genetics
Hyperkeratosis, Epidermolytic - pathology
Keratin-10
Keratins - genetics
Mutation
Point Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA
Skin - pathology
Online AccessGet more information

Cover

More Information
Summary: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.
ISSN:0385-2407
1346-8138
DOI:10.1111/j.1346-8138.2002.tb00242.x