A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation

Wencong XU; Lei ZHU; Hang SU; Jiao ZHANG; Wenjing CHEN; Yongfeng CHEN

doi:10.3969/j.issn.1674-8468.2022.01.007

Pifu-xingbing zhenliaoxue zazhi (Feb 2022)

A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation

Wencong XU,
Lei ZHU,
Hang SU,
Jiao ZHANG,
Wenjing CHEN,
Yongfeng CHEN

Affiliations

Wencong XU: Guangdong Clinical College of Dermatology, Anhui Medical University
Lei ZHU: Guangdong Clinical College of Dermatology, Anhui Medical University
Hang SU: Dermatology Hospital, Southern Medical University, Guangzhou 510091, China
Jiao ZHANG: Dermatology Hospital, Southern Medical University, Guangzhou 510091, China
Wenjing CHEN: Dermatology Hospital, Southern Medical University, Guangzhou 510091, China
Yongfeng CHEN: Guangdong Clinical College of Dermatology, Anhui Medical University

DOI: https://doi.org/10.3969/j.issn.1674-8468.2022.01.007
Journal volume & issue: Vol. 29, no. 1
pp. 34 – 36

Abstract

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A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation is reported. A 32-year-old Chinese man presented with a 30-year history of palmoplantar hyperkeratotic plaques. Dermatological examination showed the hyperkeratotic plaques on bilateral palms and soles, and rough thickened skin in gray-yellow color. The histopathology revealed markedly epidermolytic hyperkeratosis, acanthosis and vacuolar changes of the stratum granulosum. Whole-exome sequencing showed a exon mutation of KRT9 gene [c. 487C>T (p. Arg163Trp) ]. The patient was diagnosed as epidermolytic palmoplantar keratosis.

Published in Pifu-xingbing zhenliaoxue zazhi

ISSN: 1674-8468 (Print)
Publisher: editoiral office of Journal of Diagnosis and Therapy on Dermato-venereology
Country of publisher: China
LCC subjects: Medicine: Dermatology
Website: http://pfxbzlx.gdvdc.com/EN/home

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Abstract

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