Linear epidermal naevus associated with a novel mosaic heterozygous <i>PTPN11</i> variant
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.
Authors
- Christine J. Ko (ORCID: https://orcid.org/0000-0003-2270-2524)
- Ryland D. Mortlock (ORCID: https://orcid.org/0000-0001-9666-4394)
- Tiffany X. Chen (ORCID: https://orcid.org/0000-0001-5443-0610)
- Rong‐Hua Hu (ORCID: https://orcid.org/0000-0002-5260-2519)
- Keith A. Choate (ORCID: https://orcid.org/0000-0003-1010-6354)
- Xingyuan Jiang (ORCID: https://orcid.org/0000-0002-9891-6353)
Institutions
- Yale University (US)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-05-29
- DOI
- https://doi.org/10.1093/bjd/ljaf210
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00