ArticleJournal of dermatological case reports2017
Birt-Hogg-Dubé Syndrome - report of two cases with two new mutations.
Article in Journal of dermatological case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Adrenocortical carcinoma as a manifestation of Birt-Hogg-Dubé syndrome.Endocrine-related cancer · 2026Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionBirt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by cutaneous fibrofolliculomas and/or trichodiscomas, lung cysts, spontaneous pneumothorax and renal tumors. However, its clinical expression is highly variable. This syndrome is caused by germline mutations in the MAIN OBSERVATIONS: Two men, 60 and 39-year-old, presented with a several year history of asymptomatic whitish papules scattered over the face and neck. Skin biopsies revealed fibrofolliculomas. The clinical diagnosis of BHDS was corroborated by identification of new heterozygotic mutations in
conclusionsThe presence of multiple fibrofolliculomas should raise the suspicion of BHDS. Patients with this syndrome, regardless of the detected mutation, should be carefully monitored to ensure that potentially serious disease-related conditions can be detected early.
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