Linear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant.
case_report · Level V
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- Record sourced from PubMed, PMID 40442926.
- Also identified by DOI 10.1093/bjd/ljaf210 and PMC identifier 12360036.
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Abstract
We report the first case of linear epidermal naevus (LEN) associated with a novel mosaic heterozygous <i>PTPN11</i> 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 <i>PTPN11</i> mosaicism to LEN. Our findings expand the genetic spectrum of LEN and provide insights into the role of <i>PTPN11</i> in cutaneous mosaic disorders.