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R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis
Author(s) -
HARUNA Kunitaka,
SUGA Yasushi,
MIZUNO Yuki,
HASEGAWA Toshio,
KOUROU Kazuhiro,
MATSUBA Shouichi,
MURAMATSU Shigenori,
IKEDA Shigaku
Publication year - 2007
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2007.00328.x
Subject(s) - epidermolytic hyperkeratosis , keratin , hyperkeratosis , acanthosis , keratin 6a , missense mutation , erythema , pathology , mutation , dermatology , biology , medicine , genetics , gene , intermediate filament , cytoskeleton , cell
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.