728 results match your criteria Birt-Hogg-Dube Syndrome


Birt-Hogg-Dubé syndrome: association with bilateral metachronous seminomas.

J Eur Acad Dermatol Venereol 2022 May 24. Epub 2022 May 24.

Department of Dermatology, South Infirmary Victoria University Hospital, Cork, Ireland.

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Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.

Orphanet J Rare Dis 2022 May 16;17(1):203. Epub 2022 May 16.

Division of Life Sciences and Medicine, Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, 230001, Anhui, China.

Background: Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in China.

Methods: After the first patient with BHDS was recognized in 2017, a Rare Lung Disease Clinic with a multidisciplinary team of specialists was established. Read More

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Basal Lung Cysts in Birt-Hogg-Dubé Syndrome.

Intern Med 2022 May 14. Epub 2022 May 14.

Department of Respiratory Medicine, Fukuoka University Chikushi Hospital, Japan.

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[Fibrofolliculomas: The Clue to the Diagnosis of Birt-Hogg-Dubé Syndrome].

Acta Med Port 2022 May 4. Epub 2022 May 4.

Serviço de Dermatologia. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. Clínica Universitária de Dermatologia. Faculdade de Medicina. Universidade de Lisboa. Lisboa. Portugal.

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An Unusual Case of Severe Cystic Lung Disease: A Case Report and Review of the Literature.

Cureus 2022 Mar 24;14(3):e23442. Epub 2022 Mar 24.

Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, USA.

Cystic lung diseases are a heterogeneous group of disorders with varying presentations and pathophysiology. They present as air-filled lung cysts that are prone to rupture and result in spontaneous pneumothoraxes. While pulmonary cysts are not uncommon, cysts presenting later in life with unclear etiology are rare and result in both a diagnostic and therapeutic challenge. Read More

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Bibliometric Analysis of Birt-Hogg-Dubé Syndrome From 2001 to 2021.

Front Med (Lausanne) 2022 11;9:857127. Epub 2022 Apr 11.

Guanganmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China.

Background: Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant inherited disorder caused by germline mutations in . Despite our significantly evolved understanding of BHD over the past decades, no bibliometric analyses have been conducted in this field. This study aimed to analyze and visualize the characteristics of publication outputs, the research hotspots, and scientific frontiers about BHD using bibliometric analysis. Read More

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Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.

Orphanet J Rare Dis 2022 04 27;17(1):176. Epub 2022 Apr 27.

Human Genetics Unit, Indian Statistical Institute, Kolkata, India.

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN. It is characterized by either one or more manifestations of primary spontaneous pneumothorax (PSP), skin fibrofolliculomas and renal carcinoma (chromophobe). Here, we comprehensively studied the mutational background of 31 clinically diagnosed BHDS patients and their 74 asymptomatic related members from 15 Indian families. Read More

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Natural Course of Cysts in Birt-Hogg-Dubé Syndrome.

Am J Respir Crit Care Med 2022 Apr 22. Epub 2022 Apr 22.

Leiden University Medical Center, 4501, Respiratory Medicine, Leiden, Netherlands.

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

BMC Med Genomics 2022 04 15;15(1):84. Epub 2022 Apr 15.

Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, The Netherlands.

The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal tract. We question whether the diagnosis of BHD in this patient was justified. Using the previously proposed diagnostic criteria for establishing the diagnosis of BHD as a guideline, we systematically describe our concerns. Read More

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Comment on Balsamo et al.: "Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature".

BMC Med Genomics 2022 04 15;15(1):85. Epub 2022 Apr 15.

Discipline of General Surgery of Urgency and Digestive System, Department of Surgery I, Faculdade de Medicina Do ABC, Avenida Lauro Gomes, 2000, Santo André, São Paulo, CEP 09060-870, Brasil.

In this comment, we highlight the diagnosis of Birt-Hogg-Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and which are considered equivalent to fibrofolliculomas, presence of bilateral renal mass suggestive of angiomyolipomas by imaging exams. A benign/likely benign variant of FLCN in the intron 13 was also detected. Still, his previous pathological history presented other relevant data such as the prior removal of vocal cord angioma, total thyroidectomy, and left parotidectomy due to a cystic lesion whose histopathological examination revealed the presence of oncocytoma and lipomatosis, in addition to basal cell cutaneous carcinoma. Read More

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Bilateral Renal Oncocytoma: Active Surveillance Versus Partial Nephrectomy.

Cureus 2022 Feb 16;14(2):e22303. Epub 2022 Feb 16.

Hematology and Medical Oncology, California Northstate University College of Medicine, Elk Grove, USA.

Renal oncocytomas (ROs) are benign tumors comprising 16% of renal masses. Due to the overlapping phenotypes seen in RO and chromophobe renal cell carcinoma (RCC) and lack of specific clinical and laboratory characteristics of RO, physicians face a challenge when arriving at a definitive diagnosis of RO. ROs additionally appear indistinct from RCCs on CT scan, contributing further to the difficulty of arriving at a clear diagnosis of RO. Read More

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February 2022

Cigarette smoking is a secondary cause of folliculin loss.

Thorax 2022 Mar 17. Epub 2022 Mar 17.

Medicine, VA Pittsburgh Healthcare System University Drive Division, Pittsburgh, Pennsylvania, USA

Background: Birt-Hogg-Dubé syndrome (BHD) is a clinical syndrome manifesting with cystic lung disease and pneumothorax. Features of BHD result from the loss-of-function mutations of the folliculin () gene. Chronic obstructive pulmonary disease (COPD), characterised by an irreversible airflow limitation, is primarily caused by cigarette smoking. Read More

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Do we need an updated classification of oncocytic renal tumors? : Emergence of low-grade oncocytic tumor (LOT) and eosinophilic vacuolated tumor (EVT) as novel renal entities.

Mod Pathol 2022 Mar 10. Epub 2022 Mar 10.

Department of Pathology and Laboratory Medicine, Cumming School of Medicine, University of Calgary and Alberta Precision Laboratories, Calgary, AB, Canada.

The category of "oncocytic renal tumors'' includes well-recognized entities, such as renal oncocytoma (RO) and eosinophilic variant of chromophobe renal cell carcinoma (eo-ChRCC), as well as a group of "gray zone" oncocytic tumors, with overlapping features between RO and eo-ChRCC that create ongoing diagnostic and classification problems. These types of renal tumors were designated in the past as "hybrid oncocytoma-chromophobe tumors". In a recent update, the Genitourinary Pathology Society (GUPS) proposed the term "oncocytic renal neoplasm of low malignant potential, not further classified", for such solitary and sporadic, somewhat heterogeneous, but relatively indolent tumors, with equivocal RO/eo-ChRCC features. Read More

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Case Report: A Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family.

Front Oncol 2022 14;12:835346. Epub 2022 Feb 14.

Romagna Cancer Registry, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Meldola, Italy.

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited disorder caused by a mutation in folliculin () gene transmitted germline autosomal dominant pattern. Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, spontaneous pneumothorax, and benign skin hamartomas, and its diagnosis is not easy and consequently underestimated. Several mutations have been identified in gene, among which the majority of alterations are frameshift (insertion/deletion), nonsense, or splice-site mutations that generally produce unfunctional truncated FLCN proteins. Read More

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February 2022

Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene.

Ann Dermatol 2022 Feb 27;34(1):66-71. Epub 2022 Jan 27.

Department of Medical Genetics, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey.

Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutaneous lesions, renal tumors, lung cysts and inactivation of the gene (). Here, we present three female patients diagnosed with BHDS. First case a 55-year-old female had flesh moles histopathology compatible with angiofibroma, multiple cysts in the lung and kidneys, gene mutations ('c. Read More

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February 2022

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

PLoS One 2022 17;17(2):e0264056. Epub 2022 Feb 17.

Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.

Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only a few hundreds of families have so far been described in the literature. Patients with BHDS present with three distinct symptoms: fibrofolliculomas, pneumothorax due to lung cyst formation, and increased lifetime risk of kidney tumours. Read More

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February 2022

Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly.

Front Genet 2021 19;12:768342. Epub 2022 Jan 19.

Department of Respiratory Medicine, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.

Birt-Hogg-Dubé (BHD) syndrome and congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome are clinically rare autosomal dominant genetic diseases. In this study, we describe an extremely rare family with BHD syndrome and CCA. To investigate the clinical and genetic characteristics of a family with BHD syndrome and CCA. Read More

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January 2022

Correlative analysis of lung CT findings in patients with Birt-Hogg-Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study.

BMC Med Imaging 2022 02 7;22(1):22. Epub 2022 Feb 7.

Department of Radiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, Anhui, China.

Background: The diagnosis of patients with Birt-Hogg-Dubé (BHD) syndrome is always delayed (even for more than 10 years). Improving the understanding and diagnosis of this disease is vital for clinicians and radiologists. In this study we presented the chest computed tomography (CT) findings of BHD syndrome and offered suggestions for BHD cases with spontaneous pneumothorax. Read More

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February 2022

Seventh BHD international symposium: recent scientific and clinical advancement.

Oncotarget 2022 20;13:173-181. Epub 2022 Jan 20.

Department of Urology, SUNY Upstate Medical University, Syracuse, NY, USA.

The 7th Birt-Hogg-Dubé (BHD) International Symposium convened virtually in October 2021. The meeting attracted more than 200 participants internationally and highlighted recent findings in a variety of areas, including genetic insight and molecular understanding of BHD syndrome, structure and function of the tumor suppressor Folliculin (FLCN), therapeutic and clinical advances as well as patients' experiences living with this malady. Read More

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January 2022

[Two families with Birt-Hogg-Dubé syndrome:case report and literature review].

Zhonghua Jie He He Hu Xi Za Zhi 2022 Jan;45(1):59-63

Department of Respiratory and Critical Care Medicine, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology), Shenzhen Institute of Respiratory Diseases in Shenzhen People's Hospital,Shenzhen 518020,China.

To improve the awareness of Birt-Hogg-Dubé syndrome. We performed a retrospective analysis with two families of Birt-Hogg-Dubé syndrome (BHD syndrome) diagnosed in Department of Respiratory and Critical Care Medicine, Shenzhen People's Hospital from 2020 to 2021. Clinical manifestations, imaging features, diagnosis and gene detection results were summarized. Read More

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January 2022

Birt-Hogg-Dubé syndrome with rare unclassified renal cell carcinoma: A case report.

Medicine (Baltimore) 2021 Dec;100(51):e28380

Department of Robotic Minimally Invasive Surgery Center, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.

Introduction: Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic disease. Renal cell carcinoma is the most serious complication of BHDS. The histological types of BHDS-related renal cell carcinoma are mostly mixed chromophobe/eosinophil and chromophobe cell types. Read More

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December 2021

Birt-Hogg-Dubé Syndrome.

Radiology 2022 03 30;302(3):514. Epub 2021 Nov 30.

From the Section of Thoracic Imaging, Imaging Institute, Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH 44195 (S.G.); and Department of Pathology, University of Michigan, Ann Arbor, Mich (C.F.F.).

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Birt-Hogg-Dubé syndrome: case report and brief review of the literature.

Radiol Case Rep 2022 Jan 18;17(1):250-253. Epub 2021 Nov 18.

Department of Radiology, West Virginia University, Morgantown, WV 26506.

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). Read More

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January 2022

Overlapping Phenotypic Features of PTEN Hamartoma Tumor Syndrome and Birt-Hogg-Dubé Syndrome.

Cutis 2021 Sep;108(3):E2-E4

Dr. Angra is in private practice, Alexandria, Virginia. Dr. Eleryan is from the Division of Dermatology, West Los Angeles VA Medical Center, UCLA David Geffen School of Medicine, California. Dr. Sotomayor is from Palm Harbor Dermatology, Tampa, Florida.

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September 2021

Renal and Lung Cysts in Birt-Hogg-Dubé Syndrome: A Continuum of the Same Disorder.

Cureus 2021 Oct 18;13(10):e18878. Epub 2021 Oct 18.

Department of Respiratory Medicine, National Coordinating Reference Centre for Rare Pulmonary Diseases, Louis Pradel Hospital, University Hospital of Lyon, Lyon, FRA.

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal-dominant disorder, affecting multiple organs, mostly the skin, lungs, and kidneys. The prevalence of BHD syndrome is difficult to define given the rarity of the disease. Patients present most often with primary spontaneous pneumothorax. Read More

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October 2021

Folliculin impairs breast tumor growth by repressing TFE3-dependent induction of the Warburg effect and angiogenesis.

J Clin Invest 2021 11;131(22)

Goodman Cancer Institute.

Growing tumors exist in metabolically compromised environments that require activation of multiple pathways to scavenge nutrients to support accelerated rates of growth. The folliculin (FLCN) tumor suppressor complex (FLCN, FNIP1, FNIP2) is implicated in the regulation of energy homeostasis via 2 metabolic master kinases: AMPK and mTORC1. Loss-of-function mutations of the FLCN tumor suppressor complex have only been reported in renal tumors in patients with the rare Birt-Hogg-Dube syndrome. Read More

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November 2021

Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.

JAMA Netw Open 2021 11 1;4(11):e2132615. Epub 2021 Nov 1.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

Importance: In BAP1 tumor predisposition syndrome, clear cell renal cell carcinoma (RCC) is frequently associated with melanoma and/or mesothelioma, while germline MITF p.E318K alterations are being increasingly reported in melanoma/RCC. Limited data exist on the co-occurrence of melanoma and/or mesothelioma with renal neoplasia and the prevalence of associated germline alterations. Read More

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November 2021