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.
Haruna
Kunitaka
K
Department of Dermatology, Juntendo University School of Medicine, Tokyo, Japan. kharuna@med.juntendo.ac.jp
Suga
Yasushi
Y
Mizuno
Yuki
Y
Hasegawa
Toshio
T
Kourou
Kazuhiro
K
Matsuba
Shouichi
S
Muramatsu
Shigenori
S
Ikeda
Shigaku
S
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