由KRT2体细胞突变引起的表皮松解性表皮痣。

Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.

作者信息

Mohamad Janan, Samuelov Liat, Assaf Sari, Vodo Dan, Sarig Ofer, Sprecher Eli

机构信息

Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Pediatr Dermatol. 2021 Mar;38(2):538-540. doi: 10.1111/pde.14529. Epub 2021 Feb 8.

DOI:10.1111/pde.14529

PMID:33555633

Abstract

Superficial epidermolytic ichthyosis (formerly Ichthyosis bullosa of Siemens) is an uncommon condition caused by dominant mutations in KRT2 encoding keratin 2. Epidermolytic epidermal nevus due to somatic mutations in KRT2 is even rarer. Here, we report the third case of KRT2-associated epidermal nevus and review the literature.

摘要

浅表性表皮松解性鱼鳞病（原称西门斯大疱性鱼鳞病）是一种由编码角蛋白2的KRT2基因显性突变引起的罕见疾病。由KRT2基因体细胞突变导致的表皮松解性表皮痣更为罕见。在此，我们报告第三例与KRT2相关的表皮痣病例并对文献进行综述。