학술논문
KRT5 유전자 돌연변이가 확인된 반상 색소침착을 동반한 단순수포표피박리증
KRT5 Gene Mutation in Patient with Epidermolysis Bullosa Simplex with Mottled Pigmentation
KRT5 Gene Mutation in Patient with Epidermolysis Bullosa Simplex with Mottled Pigmentation
Document Type
Article
Author
손승진 / Seungjin Son; 홍동균 / Dongkyun Hong; 정경은 / Kyung Eun Jung; 서영준 / Young-joon Seo; 김선영 / Seon Young Kim; 이영 / Young Lee
Source
대한피부과학회지 / Korean Journal of Dermatology. Feb 29, 2024 62(2):101
Subject
Language
Korean
ISSN
0494-4739
Abstract
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant disease characterized by nonscarring blistering after minor trauma, reticulated pigmentation, and palmoplantar hyperkeratosis. EBS-MP is caused by a mutation in the KRT5 or KRT14 gene encoding the keratinocyte intermediate filament. A 14-year-old girl presented with reticulated hyperpigmentation of the trunk and both extremities, which was observed 9 years ago. Additionally, punctate hyperkeratotic papules were observed on both the palms and soles. She had a history of being diagnosed with EBS as a baby. Skin biopsies were performed on both the hyperpigmented and hyperkeratotic papules. Based on the clinical and histopathological findings, the patient was diagnosed with EBS-MP, and next-generation sequencing was performed. Genetic screening identified a p.P25L mutation in the KRT5 gene. Herein, we report a case of p.P25L mutation in the KRT5 gene in a patient with EBS-MP. (Korean J Dermatol 2024;62(2):101∼105)