ArticleRadiology case reports2022
Birt-Hogg-Dubé syndrome: case report and brief review of the literature.
Article in Radiology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- A Possible Association of Salivary Gland Tumors and Oral Lesions with Birt-Hogg-Dube Syndrome: A Systematic Review.Head and neck pathology · 2024Pooled it
- An unusual presentation of miliary tuberculosis with medullary nephrocalcinosis in an infant.Radiology case reports · 2026Article
- A Rare Case of Spontaneous Pneumothorax Recurrence 30 Years After Surgery in a Patient with Birt-Hogg-Dube Syndrome: Case Presentation and Short Review of the Literature.Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. It results from mutation of the gene located on the short arm of chromosome 17 (17p11.2). The gene codes for the protein folliculin, which is believed to be an oncogene suppressor protein. This syndrome is often underdiagnosed. Presence of lung cysts on chest CT should prompt inclusion of BHDS in the differential diagnosis, since these findings may develop earlier than other manifestations. There are key imaging characteristics of pulmonary cysts on CT of the chest which can suggest the diagnosis of BHDS and help in early detection and prompt screening for renal tumors. The main concern with BHDS is the increased risk of renal carcinoma. Here, we report a case of a 59-year-old male who was suspected to have the diagnosis of BHDS based on characteristic features of lung cysts on the Chest CT, subsequently confirmed by genetic testing.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.