| Autor: |
Wencong XU, Lei ZHU, Hang SU, Jiao ZHANG, Wenjing CHEN, Yongfeng CHEN |
| Jazyk: |
čínština |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Pifu-xingbing zhenliaoxue zazhi, Vol 29, Iss 1, Pp 34-36 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1674-8468 |
| DOI: |
10.3969/j.issn.1674-8468.2022.01.007 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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