Work

Linear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant

Year: 2025

Type: article

Abstract: We report the first case of linear epidermal naevus (LEN) associated with a novel mosaic heterozygous PTPN11 variant (c.C1361 T, p.P454L). Genetic and histopathological analysis revealed increased RAS/mitogen-activated protein kinase pathway activation in affected skin, suggesting a distinct molecular mechanism linking PTPN11 mosaicism to LEN. Our findings expand the genetic spectrum of LEN and provide insights into the role of PTPN11 in cutaneous mosaic disorders.

Source: British Journal of Dermatology

DOI: 10.1093/bjd/ljaf210

Authors: Xingyuan Jiang, Tiffany X Chen, Ronghua Hu, Ryland D Mortlock, Christine Ko, Keith A Choate

Institution: Yale University

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Institute of General Medical Sciences, National Institute of Arthritis and Musculoskeletal and Skin Diseases