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.
7 citations
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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.
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.
October 2023 in “Research Review” This source describes the development, structure, and types of skin appendage tumors, noting both benign and malignant forms, potential associations with syndromes, and categories based on follicular differentiation.
1 citations
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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.
33 citations
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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.
16 citations
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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.
January 2025 in “International Journal of Clinical and Diagnostic Pathology” This study found that skin adnexal tumors are mostly benign, with 98.6% of cases being non-cancerous, and highlighted histopathological examination as essential for accurate diagnosis and management, given their frequent clinical misdiagnosis.
16 citations
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July 2021 in “Histopathology” This review discusses recent findings on molecular changes in cutaneous adnexal tumours and reports novel markers and pathways involved, highlighting the diverse oncogenic drivers and tumour suppressor alterations.
5 citations
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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.
7 citations
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March 2017 in “Journal of dermatology” This review outlines the clinical and histopathological features that aid in classifying tumors arising from the folliculosebaceous apparatus and reports no new research results.
66 citations
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May 2012 in “Scientific Reports” This study demonstrated that bioengineered hair follicles reconstituted from embryonic skin cells and transplanted into hosts can restore physiological hair functions, suggesting potential applications for treating alopecia.
36 citations
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March 2011 in “Nature Communications” This study found that TSC2-null fibroblast cells from TSC skin hamartomas can induce hair follicle formation and hamartomatous changes in keratinocytes, with active mTOR signaling observable in a mouse xenograft model.
11 citations
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May 2022 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This systematic review provides a detailed overview of the clinical and dermoscopic features of cutaneous adnexal tumors, highlighting their potential to mimic other skin lesions and assisting in differential diagnosis.
research Acne
2 citations
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May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
16 citations
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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.
3 citations
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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.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.
February 2025 in “Cosmetics” This narrative review explored how blue light therapy may offer therapeutic benefits for various skin disorders by affecting microbial activity and immune responses, promoting hair growth, and aiding skin rejuvenation and healing.
March 2017 in “InTech eBooks” This source provides a comprehensive review of acne vulgaris, highlighting its pathophysiology, epidemiology, molecular mechanisms, and treatment options, emphasizing the significance of addressing acne's psychosocial burden for adolescents and beyond.
June 2023 in “Dermatopathology” In this case report, researchers described a unique skin lesion in a 55-year-old woman, identifying it as folliculosebaceous cystic hamartoma with an unusual combination of spindle cell lipomatous and neural components, which had not been previously documented in such cases.
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.
39 citations
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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.
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.
2 citations
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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
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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.
December 2025 in “SAS Journal of Medicine” This case report highlights the importance of considering trichofolliculoma in the differential diagnosis of scalp lesions, with histopathological examination essential for accurate diagnosis.
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.
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.
19 citations
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September 2016 in “Journal of the European Academy of Dermatology and Venereology” This article is a letter discussing a clinicopathologic study of 90 cases of trichofolliculoma and reports no new results.