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Article

Multiple angiomatous nodules: a novel skin tumor in Birt-Hogg-Dubé syndrome.

Journal of cutaneous pathology - 1 Dec 2016

Nikolaidou C, Moscarella E, Longo C, Rosato S, Cavazza A, Piana S

Abstract excerpt

Birt-Hogg-Dubé syndrome (BHDS), first described in 1977, is a rare autosomal dominant disorder, linked to germline mutations in the FLCN (folliculin) gene. Patients may present with different skin tumors, pulmonary cysts with recurrent spontaneous pneumothorax, and renal cancers, but it has also been estimated that about 25% of carriers older than 20 years do not show skin involvement. So far, besides the triad...

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Source

Identifiers

PMID: 27596542
DOI: 10.1111/cup.12811

Genes

FLCN

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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