632 results match your criteria Birt-Hogg-Dube Syndrome


Parsimony or poor luck: Concurrent Birt-Hogg- Dubé Syndrome and sarcoidosis.

Sarcoidosis Vasc Diffuse Lung Dis 2017 28;34(2):194-196. Epub 2017 Apr 28.

Department of Pulmonology and Critical Care, UC Davis Medical Center.

While sarcoidosis is notorious for myriad manifestations including cystic lung changes, we present a case with both Birt-Hogg-Dubé syndrome (BHD) and pulmonary sarcoidosis. BHD is a rare, autosomal dominant genetic disorder characterized by numerous thin-walled, irregular cysts, but lung function is typically normal otherwise. We present a case with confirmed BHD syndrome and concurrent granulomatous lung disease consistent with sarcoidosis. Read More

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http://dx.doi.org/10.36141/svdld.v34i2.5416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170139PMC

Focus on the pulmonary involvement and genetic patterns in Birt-Hogg-Dubè syndrome: Literature review.

Respir Med 2020 Jul 6;168:105995. Epub 2020 May 6.

Department of Thoracic Surgery, University Campus Bio-Medico, Via Alvaro Del Portillo 21, Rome, 00128, Italy. Electronic address:

Introduction: Brit-Hogg-Dubé syndrome (BHD) is a rare disorder that is estimated to affects about 600 families in the World. The disease-causing mutations is on FLCN gene which codes for folliculin. This protein has a role in different organs as skin, kidney and lung, thanks to the interaction with type I and II cadherins, RhoA activity and the regulation of AMPK, mTORC1 pathways and cell adhesion. Read More

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http://dx.doi.org/10.1016/j.rmed.2020.105995DOI Listing

Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.

Orphanet J Rare Dis 2020 May 24;15(1):120. Epub 2020 May 24.

Service de pneumologie, Centre hospitalier universitaire vaudois, Université de Lausanne, Rue du Bugnon 46, CH-1011, Lausanne, Switzerland.

Background: Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on lung function in BHD are scarce and it is not known whether lung function declines over time. Read More

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http://dx.doi.org/10.1186/s13023-020-01402-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245949PMC

A Case of Birt-Hogg-Dube Syndrome.

S D Med 2020 Apr;73(4):168-170

Avera McKennan Hospital, Sioux Falls, South Dakota.

Birt-Hogg-Dube (BHD) syndrome is a rare condition that typically presents with a triad of benign cutaneous papules including fibrofolliculomas, pulmonary cysts and pneumothoraxes, and renal tumors. Though a rare disease, it is an important diagnosis so that monitoring for a renal neoplasm can begin. In this case report we discuss an asymptomatic patient diagnosed with BHD after undergoing a routine skin exam and highlight the importance of diagnosis so that routine screening can be implemented. Read More

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Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series.

Respir Med Case Rep 2020 6;30:101081. Epub 2020 May 6.

First Academic Department of Respiratory Medicine, Interstitial Lung Diseases Unit, Hospital for Diseases of the Chest, "Sotiria", Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited disease caused by mutations in the folliculin (FLCN) gene. It is characterized by lung cysts, skin fibrofolliculomas and an increased risk for the development of renal cancer, especially chromophobe. Lung cysts in the context of BHDS are typically lower lobe predominant, paramediastinal, in relation to the fissures and often elliptical shaped. Read More

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http://dx.doi.org/10.1016/j.rmcr.2020.101081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218215PMC

Pneumothorax and the biology of Birt-Hogg-Dubé syndrome.

Thorax 2020 Jun;75(6):442-443

Respiratory Medicine, Respiratory Biomedical Research Centre and Biodiscovery Institute, University of Nottingham, Nottingham, UK

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http://dx.doi.org/10.1136/thoraxjnl-2020-214861DOI Listing

Birt-Hogg-Dubé syndrome: A case report.

Med Clin (Barc) 2020 May 10. Epub 2020 May 10.

Servicio de Neumología, Hospital Universitario 12 de Octubre, Madrid, España.

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http://dx.doi.org/10.1016/j.medcli.2020.02.012DOI Listing

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.

Genet Med 2020 May 13. Epub 2020 May 13.

Department of Internal Medicine, Division of Nephrology, University Hospital Leipzig, Leipzig, Germany.

Purpose: Autosomal dominant polycystic kidney disease (ADPKD) represents the most common hereditary nephropathy. Despite growing evidence for genetic heterogeneity, ADPKD diagnosis is still primarily based upon clinical imaging criteria established before discovery of additional PKD genes. This study aimed at assessing the diagnostic value of genetic verification in clinical ADPKD. Read More

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http://dx.doi.org/10.1038/s41436-020-0816-3DOI Listing

Birt-Hogg-Dubé-syndrom.

Tidsskr Nor Laegeforen 2020 Apr 20;140(6). Epub 2020 Apr 20.

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genetic disorder characterised by pulmonary cysts, fibrofolliculomas and renal tumours. The pulmonary cysts may lead to pneumothorax, and in cases of primary, spontaneous pneumothorax the syndrome should be excluded. The renal tumours are frequently malignant, but slow-growing. Read More

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http://dx.doi.org/10.4045/tidsskr.18.0848DOI Listing

Are clinicians successful in diagnosing cutaneous adnexal tumors? a retrospective, clinicopathological study.

Turk J Med Sci 2020 Apr 14. Epub 2020 Apr 14.

Background And Aim: Cutaneous adnexal tumors (CAT) are rare tumors originating from the adnexal epithelial parts of the skin. Due to its clinical and histopathological characteristics comparable with other diseases, clinicians and pathologists experience difficulties in its diagnosis. We aimed to reveal the clinical and histopathological characteristics of the retrospectively screened cases and to compare the pre-diagnoses and histopathological diagnoses of clinicians. Read More

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http://dx.doi.org/10.3906/sag-2002-126DOI Listing

New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome.

Semin Respir Crit Care Med 2020 Apr 12;41(2):247-255. Epub 2020 Apr 12.

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder caused by germline loss-of-function mutations in gene (FLCN). BHD is characterized by lower lobe-predominant pulmonary cysts with risk of pneumothorax, benign skin tumors (fibrofolliculomas), and renal cell carcinoma, often of an unusual chromophobe/oncocytic hybrid histology. The FLCN protein functions in multiple signaling and metabolic pathways including positive regulation of mechanistic target of rapamycin complex 1 (mTORC1) activity via FLCN's GTPase (GAP) activity for Rag C, positive regulation of Wnt signaling (in mesenchymal cells), and negative regulation of TFE3 nuclear localization. Read More

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http://dx.doi.org/10.1055/s-0040-1708500DOI Listing

A novel mutation of the folliculin gene causing Birt-Hogg-Dubé syndrome as rare cause for secondary pneumothorax.

Oxf Med Case Reports 2020 Mar 30;2020(3):omaa016. Epub 2020 Mar 30.

Division of General and Thoracic Surgery, University Hospital Krems, Karl Landsteiner University of Health Sciences, Krems an der Donau, Austria.

The Birt-Hogg-Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax. Computed tomography images and a positive family history for pneumothoraces led to the suspicion of Birt-Hogg-Dubé syndrome. Read More

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http://dx.doi.org/10.1093/omcr/omaa016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104189PMC

Mesenchymal folliculin is required for alveolar development: implications for cystic lung disease in Birt-Hogg-Dubé syndrome.

Thorax 2020 Jun 1;75(6):486-493. Epub 2020 Apr 1.

The Saban Research Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA

Background: Pulmonary cysts and spontaneous pneumothorax are presented in most patients with Birt-Hogg-Dubé (BHD) syndrome, which is caused by loss of function mutations in the () gene. The pathogenic mechanisms underlying the cystic lung disease in BHD are poorly understood.

Methods: Mesenchymal was specifically deleted in mice or in cultured lung mesenchymal progenitor cells using a Cre/loxP approach. Read More

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http://dx.doi.org/10.1136/thoraxjnl-2019-214112DOI Listing

Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome.

Can Urol Assoc J 2020 Mar 23. Epub 2020 Mar 23.

Department of Urology, Dalhousie University, Halifax, NS, Canada.

Introduction: Guidelines are available to assist providers in identifying patients with renal cell carcinoma (RCC) that may benefit from genetic counselling, however, the evidence for these recommendations lacks support from the literature and controversy remains as to who should be referred. We aimed to delineate risk factors associated with a positive genetic test in a real-life cohort of patients with RCC referred to a regional medical genetics unit for evaluation of a hereditary kidney cancer syndrome.

Methods: Patients with a diagnosis of RCC referred to Maritime Medical Genetics Service (Nova Scotia, Canada) from 2006-2017 were reviewed using retrospective data. Read More

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http://dx.doi.org/10.5489/cuaj.6264DOI Listing

Nutrient Signaling and Lysosome Positioning Crosstalk Through a Multifunctional Protein, Folliculin.

Front Cell Dev Biol 2020 3;8:108. Epub 2020 Mar 3.

Section for Structural and Synthetic Biology, Department of Infectious Disease, Imperial College London, London, United Kingdom.

was identified as the gene responsible for (BHD) syndrome, a hereditary syndrome associated with the appearance of familiar renal oncocytomas. Most mutations affecting result in the truncation of the protein, and therefore loss of its associated functions, as typical for a tumor suppressor. encodes the protein (FLCN), which is involved in numerous biological processes; mutations affecting this protein thus lead to different phenotypes depending on the cellular context. Read More

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http://dx.doi.org/10.3389/fcell.2020.00108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063858PMC

A Case of Birt-Hogg-Dubé Syndrome and Multiple Intracranial Aneurysms.

Cureus 2020 Feb 5;12(2):e6884. Epub 2020 Feb 5.

Department of Neurological Surgery, Northwestern University Feinberg School of Medicine, Chicago, USA.

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition that is associated with fibrofolliculomas, pulmonary cysts, renal cysts, and renal cancer. There have been few reports in the literature of intracranial vascular pathology in patients with BHD syndrome, and intracranial vascular pathology is currently not a part of the diagnostic criteria. Given the rarity of this disease, there has not been enough evidence for a definitive link between BHD syndrome and intracranial vascular abnormalities. Read More

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http://dx.doi.org/10.7759/cureus.6884DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058392PMC
February 2020

A familial case of Birt-Hogg-Dubé syndrome complicated with various cancers.

Respirol Case Rep 2020 May 11;8(4):e00549. Epub 2020 Mar 11.

Respiratory Medicine Iizuka Hospital Iizuka Japan.

An 89-year-old woman with small papules on her face presented to our hospital complaining of progressive dyspnoea. Chest computed tomography (CT) showed bilateral multiple lung cysts, a nodular opacity in the right lower lobe, and bilateral pleural effusion. She was diagnosed with adenocarcinoma. Read More

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http://dx.doi.org/10.1002/rcr2.549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064864PMC

Adult rhabdomyoma presenting as thyroid nodule on fine-needle aspiration in patient with Birt-Hogg-Dubé syndrome: Case report and literature review.

Diagn Cytopathol 2020 Jun 18;48(6):576-580. Epub 2020 Mar 18.

Department of Pathology, NYU Langone Health, New York, New York, USA.

Extracardiac rhabdomyoma is an uncommon benign striated muscle tumor with a predilection for the head and neck region. However, it is extremely rare for extracardiac rhabdomyoma to present as a thyroid nodule. We report a case of rhabdomyoma diagnosed by thyroid fine-needle aspiration (FNA) in a patient with Birt-Hogg-Dubé (BHD) syndrome. Read More

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http://dx.doi.org/10.1002/dc.24413DOI Listing

FLCN-regulated miRNAs suppressed reparative response in cells and pulmonary lesions of Birt-Hogg-Dubé syndrome.

Thorax 2020 Jun 17;75(6):476-485. Epub 2020 Mar 17.

Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, Jiangsu, China

Background: Birt-Hogg-Dubé Syndrome (BHDS) characterised by skin fibrofolliculomas, kidney tumour and pulmonary cysts/pneumothorax is caused by folliculin (FLCN) germline mutations. The pathology of both neoplasia and focused tissue loss of BHDS strongly features tissue-specific behaviour of the gene. Isolated cysts/pneumothorax is the most frequent atypical presentation of BHDS and often misdiagnosed as primary spontaneous pneumothorax (PSP). Read More

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http://dx.doi.org/10.1136/thoraxjnl-2019-213225DOI Listing

Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.

BMC Med Genet 2020 03 14;21(1):52. Epub 2020 Mar 14.

Section of General Surgery and Gastrointestinal Surgery, Department of Surgery I, Faculdade de Medicina do ABC, Avenida Lauro Gomes, 2000, Santo André/São Paulo, CEP 09060-870, Brazil.

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Read More

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http://dx.doi.org/10.1186/s12881-020-0991-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071710PMC

A FLCN-TFE3 Feedback Loop Prevents Excessive Glycogenesis and Phagocyte Activation by Regulating Lysosome Activity.

Cell Rep 2020 Feb;30(6):1823-1834.e5

Cancer Science Institute of Singapore, National University of Singapore, Centre for Translational Medicine, Singapore 117599, Singapore; International Research Center for Medical Sciences (IRCMS), Kumamoto University, 2-2-1 Honjo, Chuo-ku, Kumamoto 860-0811, Japan. Electronic address:

The tumor suppressor folliculin (FLCN) suppresses nuclear translocation of TFE3, a master transcription factor for lysosomal biogenesis, via regulation of amino-acid-sensing Rag GTPases. However, the importance of this lysosomal regulation in mammalian physiology remains unclear. Following hematopoietic-lineage-specific Flcn deletion in mice, we found expansion of vacuolated phagocytes that accumulate glycogen in their cytoplasm, phenotypes reminiscent of lysosomal storage disorder (LSD). Read More

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http://dx.doi.org/10.1016/j.celrep.2020.01.042DOI Listing
February 2020

Breast cancer in a patient with Birt-Hogg-Dubé syndrome (BHDS) with dramatic response to neoadjuvant chemotherapy.

BMJ Case Rep 2020 Feb 4;13(2). Epub 2020 Feb 4.

Hematology/Oncology, Joan C Edwards School of Medicine at Marshall University, Huntington, West Virginia, USA.

This is a case of 49-year-old white woman who presented with a rapidly growing right sided breast mass. A subsequent punch biopsy confirmed grade 3 invasive mammary carcinoma of no special type which was negative for oestrogen receptor, progesterone receptor and Her-2 neu overexpression. She was a carrier of folliculin gene mutation that is characteristic of Birt-Hogg-Dubé syndrome (BHDS), a condition known to cause skin lesions, renal cancers and pneumothoraces. Read More

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http://dx.doi.org/10.1136/bcr-2019-232226DOI Listing
February 2020

Pulmonary Cystic Disease and Its Mimics.

Authors:
Kirk D Jones

Surg Pathol Clin 2020 Mar;13(1):141-163

Department of Pathology, University of California San Francisco, 505 Parnassus Avenue, Room M565, San Francisco, CA 94143, USA. Electronic address:

Cystic diseases of the lung encompass a fairly broad variety of different diseases with causes including genetic abnormalities, smoking-related problems, developmental disorders, malignant neoplasms, and inflammatory processes. In addition, there are several diagnoses that closely resemble cystic lung disease, including cavitary diseases, cystic bronchiectasis, emphysema, and cystic changes in fibrosing interstitial lung disease. This article provides a review of cystic lung disease and its gross and histologic mimics. Read More

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http://dx.doi.org/10.1016/j.path.2019.11.007DOI Listing

Comment on "Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up".

Korean J Intern Med 2020 Mar 30;35(2):474-475. Epub 2020 Jan 30.

Division of Pulmonary Medicine, Department of Internal Medicine, Taipei Medical University Hospital, Taipei, Taiwan.

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http://dx.doi.org/10.3904/kjim.2019.326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061016PMC

Response to comment on "Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up".

Korean J Intern Med 2020 Mar 30;35(2):476-477. Epub 2020 Jan 30.

Department of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3904/kjim.2019.430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060991PMC

Familial pneumothoraces - Birt-Hogg-Dubé syndrome. Differentiation with other cystic lung diseases.

Pol J Radiol 2019 28;84:e424-e429. Epub 2019 Oct 28.

3 Department of Lung Diseases, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland.

Birt-Hogg-Dubé syndrome (BHDS) is a rare, genetic, autosomal dominant disease caused by mutation in a folliculin gene. This syndrome is characterised by three main symptoms: benign lesions originating from hair follicles, variously shaped cysts in the lungs, and various types of benign and malignant kidney neoplasms. In our article we are going to present cases of two sisters with BHDS. Read More

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http://dx.doi.org/10.5114/pjr.2019.89964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6964329PMC
October 2019

Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé Syndrome.

Chest 2020 May 17;157(5):1199-1206. Epub 2020 Jan 17.

Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany. Electronic address:

Background: Birt-Hogg-Dubé syndrome (BHDS) is a genetic tumor syndrome characterized by lung cysts, spontaneous pneumothorax, fibrofolliculomas, and renal cell cancer. Because of its rarity and clinical heterogeneity, much is still unknown regarding the course of the disease and individual risk assessment. Therefore, we studied nonenvironmental risk factors for pneumothorax in a large sample of patients with BHDS. Read More

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http://dx.doi.org/10.1016/j.chest.2019.12.019DOI Listing

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.

Genes Chromosomes Cancer 2020 Jun 5;59(6):333-347. Epub 2020 Feb 5.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK.

Constitutional translocations, typically involving chromosome 3, have been recognized as a rare cause of inherited predisposition to renal cell carcinoma (RCC) for four decades. However, knowledge of the molecular basis of this association is limited. We have characterized the breakpoints by genome sequencing (GS) of constitutional chromosome abnormalities in five individuals who presented with RCC. Read More

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http://dx.doi.org/10.1002/gcc.22833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187337PMC

Leiomyosarcoma in Birt-Hogg-Dubé Syndrome.

J Pediatr Hematol Oncol 2020 Mar;42(2):136-137

Division of Hematology/Oncology.

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by benign cutaneous tumors (fibrofolliculomas, trichodiscomas, and acrochordons), basal lung cysts, pneumothoraces, and a 20% to 30% lifetime risk for renal cancer. There are isolated cases of other cancers in BHDS reported in the literature, including oncocytoma, rhabdomyoma, melanoma, thyroid cancer, meningioma, colon cancer, and breast cancer, but only the increased renal cancer risk has been substantiated. This is the case of a 9-year-old girl who presented with a leiomyosarcoma whose tumor genetic analysis showed FLCN c. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001715DOI Listing

Hornstein-Knickenberg syndrome vs. Birt-Hogg-Dubé syndrome: a critical review of an unjustified designation.

Authors:
R Happle

J Eur Acad Dermatol Venereol 2020 Apr 9;34(4):885-887. Epub 2020 Feb 9.

Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany.

The disorder that is presently called 'Birt-Hogg-Dubé syndrome' was in reality delineated in 1975 by Otto P. Hornstein and Monika Knickenberg from Erlangen (Germany) who emphasized that the occurrence of multiple 'perifollicular fibromas' represented a distinct autosomal dominant trait heralding extracutaneous cancer proneness. By contrast, Arthur R. Read More

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http://dx.doi.org/10.1111/jdv.16190DOI Listing

Multiple facial papules.

Cutis 2019 Nov;104(5):E17-E19

Departments of Dermatology and Pathology, University of Iowa Hospitals and Clinics, Iowa City, USA.

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November 2019

Birt-Hogg-Dubé syndrome, from non-invasive dermatologic assessment to gene testing, molecular and ultrastructural histologic analysis.

J Eur Acad Dermatol Venereol 2020 Apr 5;34(4):e206-e209. Epub 2020 Feb 5.

Department of Experimental Medicine, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1111/jdv.16168DOI Listing

No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome.

Br J Cancer 2020 Feb 20;122(4):590-594. Epub 2019 Dec 20.

Amsterdam UMC, Vrije Universiteit Amsterdam, Clinical Genetics, De Boelelaan, 1117, Amsterdam, Netherlands.

Background: Previously, it has been suggested that colorectal polyps and carcinomas might be associated with Birt-Hogg-Dubé syndrome. We aimed to compare the occurrence of colorectal neoplasms between Dutch patients with Birt-Hogg-Dubé syndrome and their relatives without Birt-Hogg-Dubé syndrome.

Methods: In all, 399 patients with a pathogenic FLCN mutation and 382 relatives without the familial FLCN mutation were included. Read More

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http://dx.doi.org/10.1038/s41416-019-0693-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028712PMC
February 2020

FLCN alteration drives metabolic reprogramming towards nucleotide synthesis and cyst formation in salivary gland.

Biochem Biophys Res Commun 2020 Feb 2;522(4):931-938. Epub 2019 Dec 2.

Department of Urology, Yokohama, 236-0004, Japan. Electronic address:

FLCN is a tumor suppressor gene which controls energy homeostasis through regulation of a variety of metabolic pathways including mitochondrial oxidative metabolism and autophagy. Birt-Hogg-Dubé (BHD) syndrome which is driven by germline alteration of the FLCN gene, predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas, pulmonary cysts and less frequently, salivary gland tumors. Here, we report metabolic roles for FLCN in the salivary gland as well as their clinical relevance. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.11.184DOI Listing
February 2020

A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic.

Eur J Med Genet 2020 Apr 25;63(4):103820. Epub 2019 Nov 25.

Divisions of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-Ku, Tokyo, 113-8431, Japan. Electronic address:

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant cancer syndrome caused by a germline mutation of the folliculin (FLCN) gene. Previous studies have suggested that truncated mutant folliculin proteins generated by disease causing FLCN mutations may retain partial functionality and contribute to disease phenotype. A 38-year-old Russian man presented with a left renal tumor. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.103820DOI Listing

Birt-Hogg-Dubé syndrome-associated renal cell carcinoma: Histopathological features and diagnostic conundrum.

Cancer Sci 2020 Jan 17;111(1):15-22. Epub 2019 Dec 17.

Department of Surgical Pathology, Tokyo Women's Medical University, Tokyo, Japan.

Birt-Hogg-Dubé (BHD) syndrome is associated with the development of hereditary renal cell carcinoma (RCC) and is caused by a germline mutation in the folliculin gene. Most cases of BHD syndrome-associated RCC (BHD-RCC) are less aggressive than sporadic clear cell RCC and multifocal. Therefore, it is critical to distinguish BHD-RCC from its sporadic counterparts to identify and monitor affected families and to preserve renal function for as long as possible. Read More

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http://dx.doi.org/10.1111/cas.14255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942440PMC
January 2020

Birt-Hogg-Dubé syndrome caused by a mutation of FLCN gene in a CVST patient: a case report.

Int J Neurosci 2020 May 17;130(5):438-442. Epub 2019 Dec 17.

Department of MRI, Harrison International Peace Hospital, Hengshui, Hebei, China.

: To our knowledge, this is the first report of patient with BHD syndrome caused by a novel mutation in the FLCN gene who developed a cerebral venous sinus thrombosis(CVST).: A 62-year-old male patient with a history of hypertension and two case of spontaneous pneumothorax. He had a 1-month history of headache and was admitted to the hospital one day after the headache aggravated. Read More

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http://dx.doi.org/10.1080/00207454.2019.1691204DOI Listing
May 2020
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Melanoma in a patient with previously unrecognized Birt-Hogg-Dubé syndrome.

JAAD Case Rep 2019 Nov 24;5(11):947-952. Epub 2019 Oct 24.

Department of Dermatology, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1016/j.jdcr.2019.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820253PMC
November 2019

Folliculin Interacting Protein 1 Maintains Metabolic Homeostasis during B Cell Development by Modulating AMPK, mTORC1, and TFE3.

J Immunol 2019 12 1;203(11):2899-2908. Epub 2019 Nov 1.

Department of Comparative Medicine, University of Washington, Seattle, WA 98195;

Folliculin interacting protein 1 (Fnip1) is a cytoplasmic protein originally discovered through its interaction with the master metabolic sensor 5' AMP-activated protein kinase (AMPK) and Folliculin, a protein mutated in individuals with Birt-Hogg-Dubé Syndrome. In response to low energy, AMPK stimulates catabolic pathways such as autophagy to enhance energy production while inhibiting anabolic pathways regulated by the mechanistic target of rapamycin complex 1 (mTORC1). We previously found that constitutive disruption of in mice resulted in a lack of peripheral B cells because of a block in B cell development at the pre-B cell stage. Read More

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http://dx.doi.org/10.4049/jimmunol.1900395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6864314PMC
December 2019
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A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.

Mol Genet Genomic Med 2019 12 18;7(12):e1003. Epub 2019 Oct 18.

Department of Emergency Medicine, University of Health Sciences, Haydarpasa Numune Training and Research Center, Istanbul, Turkey.

Background: Primary spontaneous pneumothorax (PSP) is a disease characterized by the accumulation of air in the pleural space between the lung and thoracic wall. It is more common in young, tall, thin, and asthenic men. A family history was reported for approximately 11. Read More

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http://dx.doi.org/10.1002/mgg3.1003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900392PMC
December 2019

What are the best criteria for Birt-Hogg-Dubé syndrome-related pneumothorax?

Respirology 2020 01 16;25(1):114. Epub 2019 Oct 16.

Department of Thoracic Surgery, China-Japan Friendship Hospital, Beijing, China.

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http://dx.doi.org/10.1111/resp.13717DOI Listing
January 2020

Diffuse Cystic Lung Diseases.

Respir Care 2020 Jan 15;65(1):111-126. Epub 2019 Oct 15.

Division of Pulmonary, Critical Care and Sleep Medicine, University of Cincinnati Medical Center, Cincinnati, Ohio.

Diffuse cystic lung diseases (DCLDs) are a group of diverse pulmonary disorders with varying pathophysiology that are characterized by the presence of thin-walled, air-filled spaces within lung parenchyma. High-resolution computed tomography plays a crucial role in the evaluation of DCLDs, and cyst characteristics such as morphology, distribution, and the presence of other associated radiologic findings can help distinguish between different DCLDs. DCLDs can be classified according to their underlying pathophysiology as neoplastic, genetic, lymphoproliferative, infectious, associated with other forms of interstitial lung disease, or related to smoking. Read More

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http://dx.doi.org/10.4187/respcare.07117DOI Listing
January 2020
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Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.

Orphanet J Rare Dis 2019 10 15;14(1):223. Epub 2019 Oct 15.

McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China.

Background: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations. The aim of this study is to better characterize the clinical features and mutation spectrum of Chinese BHDS patients and to systematically evaluate the effects of non-truncating mutations on mRNA splicing pattern. Read More

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http://dx.doi.org/10.1186/s13023-019-1198-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794894PMC
October 2019
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[Birt-Hogg-Dubé Syndrome Incidentally Found at Chest Trauma;Report of a Case].

Kyobu Geka 2019 Oct;72(11):955-957

Department of General Thoracic Surgery, Sapporo City General Hospital, Sapporo, Japan.

Birt-Hogg-Dubé syndrome (BHDS) is usually diagnosed at the incidence of pneumothorax. A 65-year-old male fell from the stairs in his house and was injured. Chest computed tomography (CT) revealed fractures of right 1st rib and sternum and hematoma in mediastinum. Read More

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October 2019
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Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation.

Chin Med J (Engl) 2019 Oct;132(20):2402-2407

Department of Thoracic Surgery, Beijing Chaoyang Hospital, Capital Medical University, Beijing 100020, China.

Background: Primary spontaneous pneumothorax (PSP) is a common manifestation of Birt-Hogg-Dubé (BHD) syndrome, which is an autosomal dominant disorder caused by mutation of the folliculin (FLCN) gene. This study was established to investigate the mutation of the FLCN gene and the phenotype in a family with PSP.

Methods: We investigated the clinical and genetic characteristics of a large Chinese family with recurrent spontaneous pneumothorax. Read More

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http://dx.doi.org/10.1097/CM9.0000000000000442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831060PMC
October 2019
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Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology.

BMJ Case Rep 2019 Sep 6;12(9). Epub 2019 Sep 6.

Department of Respiratory Medicine, St Mary's Hospital, Imperial College Healthcare NHS Trust, London, UK.

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition which classically manifests with skin lesions such as fibrofolliculomas, pulmonary cysts that predispose to spontaneous pneumothorax and an increased risk of developing renal cell carcinoma. We describe the case of a patient who presented with a spontaneous pneumothorax on a background of multiple lung cysts, in the absence of cutaneous fibrofolliculomas and renal tumours. A germline mutation in the folliculin FLCN gene was subsequently identified, confirming BHD syndrome. Read More

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http://dx.doi.org/10.1136/bcr-2019-231039DOI Listing
September 2019
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Facial papules and lung cysts: a case of Birt-Hogg-Dubé syndrome.

BMJ Case Rep 2019 Aug 30;12(8). Epub 2019 Aug 30.

Respiratory Medicine, Royal Liverpool and Broadgreen Hospitals NHS Trust, Liverpool, UK.

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http://dx.doi.org/10.1136/bcr-2019-232083DOI Listing

A Stepwise Diagnostic Approach to Cystic Lung Diseases for Radiologists.

Korean J Radiol 2019 Sep;20(9):1368-1380

Department of Radiology, Korea University Anam Hospital, College of Medicine, Korea University, Seoul, Korea.

Lung cysts are commonly seen on computed tomography (CT), and cystic lung diseases show a wide disease spectrum. Thus, correct diagnosis of cystic lung diseases is a challenge for radiologists. As the first diagnostic step, cysts should be distinguished from cavities, bullae, pneumatocele, emphysema, honeycombing, and cystic bronchiectasis. Read More

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http://dx.doi.org/10.3348/kjr.2019.0057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715565PMC
September 2019
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