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Article

Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.

Acta dermato-venereologica - 1 Nov 2015

Motegi Sei-Ichiro, Yokoyama Yoko, Ogino Sachiko, Yamada Kazuya, Uchiyama Akihiko, Perera Buddhini, Takeuchi Yuko, Ohnishi Hiroshi, Ishikawa Osamu

Abstract excerpt

LEOPARD syndrome (LS) is an autosomal dominant condition with multiple anomalies, including multiple lentigines. LS is caused by mutations in PTPN11, encoding the protein tyrosine phosphatase, SHP-2. We report here 2 unrelated Japanese cases of LS with different PTPN11 mutations (p.Y279C and p.T468P). To elucidate the pathogenesis of multiple lentigines in LS, ultrastructural and immunohistochemical analyses of...

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Source

Identifiers

PMID: 25917897
DOI: 10.2340/00015555-2123

Genes

PTPN11
STAT3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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