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Article

Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.

European journal of human genetics : EJHG - 1 Oct 2013

Pradella Laura Maria, Lang Martin, Kurelac Ivana, Mariani Elisa, Guerra Flora, Zuntini Roberta, Tallini Giovanni, MacKay Alan, Reis-Filho Jorge S, Seri Marco, Turchetti Daniela, Gasparre Giuseppe

Abstract excerpt

Birt-Hogg-Dubè (BHD) is an autosomal dominant syndrome characterised by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cancer. The association of benign cutaneous lesions and increased cancer risk is also a feature of Cowden Syndrome (CS), an autosomal dominant disease caused by PTEN mutations. BHD and CS patients may develop oncocytomas, rare neoplasias that are phenotypically...

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Share to Adenoma, Oxyphilic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carcinogenesis

Share to Chromosomal Instability

Share to Hamartoma Syndrome, Multiple

Share to PTEN Phosphohydrolase

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Source

Open in PubMed Open full text

Identifiers

PMID: 23386036
DOI: 10.1038/ejhg.2013.8
PMCID: PMC3778364

Genes

PTEN
FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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