39 citations
,
October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
33 citations
,
May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
7 citations
,
September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
December 2012 in “Expert review of dermatology” This review summarizes current knowledge about Birt–Hogg–Dubé syndrome, discussing recent findings on its pathogenesis and treatment, but reports no new clinical results; the authors emphasize understanding its cutaneous manifestations.
99 citations
,
May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
16 citations
,
March 2011 in “Ophthalmic genetics” This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.
1 citations
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January 2013 in “Lung India” This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.
13 citations
,
September 1997 in “Archives of Dermatology” This case report describes a 5-year-old boy with a solitary patch of hair loss, potentially linked to a fungal infection after antibiotic treatment showed minimal effectiveness.
72 citations
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November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
30 citations
,
October 1994 in “Journal of Cutaneous Pathology” This article describes a case of multiple perifollicular fibromas and suggests that cases previously reported as such might actually be instances of Birt‐Hogg‐Dubé syndrome.
29 citations
,
June 2015 in “Kidney International” This study developed a kidney-specific knockout mouse model lacking the Flcn gene, which recapitulates human Birt-Hogg-Dubé kidney tumorigenesis and shows that mTOR pathway inhibition with rapamycin can suppress tumor growth.
5 citations
,
January 2021 in “Indian Journal of Pathology and Microbiology” This case report describes a rare occurrence of a solitary fibrofolliculoma in the right lower eyelid of a 50-year-old man, confirmed through histopathological examination.
4 citations
,
January 2014 in “The Journal of urology/The journal of urology” This study found that folliculin deficient renal cancer cells were more sensitive to irradiation due to increased autophagic cell death, suggesting a potentially enhanced therapeutic approach when combined with autophagy inducers like rapamycin.
2 citations
,
May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
1 citations
,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
1 citations
,
January 2007 in “The Internet Journal of Dermatology” This case report describes a solitary nasal fibrofolliculoma in a 60-year-old male and reviews existing literature, indicating its rare occurrence and potential link with Birt-Hogg-Dube syndrome.
October 2023 in “Indian dermatology online journal” This report describes a case study of a 23-year-old female exhibiting multiple trichodiscomas, a type of benign tumor of the hair follicular discs common in familial cases and potentially linked to Birt-Hogg-Dube syndrome, though genetic testing was not performed due to financial constraints.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
16 citations
,
March 2005 in “Journal of The American Academy of Dermatology” This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
60 citations
,
July 2014 in “Autophagy” This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.
3 citations
,
March 2005 in “Journal of the American Academy of Dermatology” This case report describes a patient with Birt-Hogg-Dube syndrome exhibiting multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
April 2025 in “Indian Journal of Dermatology” In this case report, a 24-year-old male with a translucent nodule in the left nasolabial fold was diagnosed with a solitary fibrofolliculoma with cystic changes upon histopathology, emphasizing the rarity and potential for misdiagnosis of these benign cutaneous tumors.
116 citations
,
December 2017 in “International Journal of Women's Dermatology” This review discusses various treatment options for adult female acne, highlighting the need for tailored approaches due to individual patient needs and reports no clinical outcomes.