R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.
A 37-year-old Japanese male presented to us with persistent asteatotic skin with mild erythema on the trunk and extremities. Skin biopsy from the left knee showed marked epidermal acanthosis and hyperkeratosis, and milder granular degeneration. Ultrastructural analysis revealed clumping of the keratin filaments within suprabasal keratinocytes of the epidermis. Following direct sequencing, we found a single nucleotide substitution in one allele at the residue position 466 of the 1A rod domain segment (CGC to TGC, arginine to cysteine; R156C) in keratin 10. Clinical manifestations and molecular analysis indicated that R156C mutation in keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) in the presented case.
Department of Dermatology, Juntendo University School of Medicine, Tokyo, Japan. kharuna@med.juntendo.ac.jp
Kunitaka
K
Haruna
Yasushi
Y
Suga
Yuki
Y
Mizuno
Toshio
T
Hasegawa
Kazuhiro
K
Kourou
Shouichi
S
Matsuba
Shigenori
S
Muramatsu
Shigaku
S
Ikeda
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D003062:Codon; D004252:DNA Mutational Analysis; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology / Q000648:ultrastructure; D053550:Keratin-10 / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D012867:Skin / Q000473:pathology / Q000648:ultrastructure
D003062:Codon; D053550:Keratin-10