Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene.

International journal of dermatology - 1 Aug 2011

Alonso-González Julio, Rodríguez-Pazos Laura, Fernández-Redondo Virginia, Vega-Gliemmo Ana, Toribio Jaime

Abstract excerpt

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is characterized by skin fibrofolliculomas (FF), multiple lung cysts, spontaneous pneumothorax, and renal cancer. Cutaneous lesions are usually distributed over the face, neck, and upper trunk. The presence of FF confined to a circumscribed region of the skin has rarely been reported. CASE REPORT: A 64-year-old woman presented with a 20-year history of asymptomatic skin...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biopsy
Share to Birt-Hogg-Dube Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Neoplasms

Share to Pneumothorax

Share to Point Mutation

Share to Proto-Oncogene Proteins

Share to Skin Neoplasms

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 21781069
DOI: 10.1111/j.1365-4632.2010.04854.x

Genes

FLCN

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene.PMID 21781069Read ↗

Familial Birt-Hogg-Dubé Syndrome diagnosed with the rare FLCN exon 6 mutation: a case series of three related patientsSemantic proximity Read ↗

Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.Semantic proximity Read ↗

Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.Semantic proximity Read ↗

A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.Semantic proximity Read ↗

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

A case of Birt-Hogg-Dubé syndrome presenting with a single pedunculated fibrofolliculoma and a novel FLCN gene mutation.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.Semantic proximity Read ↗

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.Semantic proximity Read ↗

Case Report of Birt–Hogg–Dubé SyndromeSemantic proximity Read ↗

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.Semantic proximity Read ↗

Birt-Hogg-Dubé syndrome: a large single family cohort.Semantic proximity Read ↗

Genetic Insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations in <i>FLCN</i>Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.