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    1 OF 10

    A novel heterozygous mutation in the Birt-Hogg-Dubé Syndrome.
    Arch Esp Urol 2017 Sep;70(7):675-678
    Department of Urology. La Paz University Hospital. Madrid. Spain.
    Objetive: Our aim is to present a novel mutation of the Birt-Hogg-Dubé Syndrome.

    Methods: We present a case report of a 70-year-old male with three solid nodulary lesions of 4, 2.6, and 3 cm each in the right kidney, and two lesions of 1. Read More

    Cutaneous melanoma in Birt-Hogg-Dubé syndrome - part of the clinical spectrum?
    Br J Dermatol 2017 Sep 4. Epub 2017 Sep 4.
    Institute of Human Genetics, University Hospital Ludwig-Maximilian University of Munich, Munich, Germany.
    Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic disorder caused by mutations in the FLCN gene. Clinically, BHDS is highly heterogeneous even within the same family. The most characteristic features of BHDS are fibrofolliculomas, lung cysts that confer the risk of pneumothorax, and benign or malignant renal tumours. Read More

    Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax.
    J Thorac Dis 2017 Jul;9(7):1967-1972
    Department of Thoracic Surgery, Peking University People's Hospital, Beijing 100044, China.
    Background: Familial spontaneous pneumothorax (FSP) is an inherited disease, and Birt-Hogg-Dubé (BHD) syndrome is its leading cause. BHD syndrome is an autosomal dominant disorder characterized by pulmonary cysts, spontaneous pneumothorax, renal cancer, and skin fibrofolliculomas. It is caused by germline mutations in the FLCN gene. Read More

    Birt-Hogg-Dubé syndrome: characteristic CT findings differentiating it from other diffuse cystic lung diseases.
    Diagn Interv Radiol 2017 Sep-Oct;23(5):354-359
    Department of Radiology, Dongguk University Ilsan Hospital, Dongguk University, Gyeonggi-do, Korea.
    Birt-Hogg-Dubé (BHD) syndrome is an uncommon, autosomal dominant, multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. Spontaneous pneumothorax and lung cysts on chest computed tomography (CT) should lead to the inclusion of BHD syndrome in the differential diagnosis, because these findings may develop earlier than other clinical manifestations. Here, we review and describe the characteristic findings of BHD syndrome. Read More

    Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene.
    Genet Test Mol Biomarkers 2017 Aug 14. Epub 2017 Aug 14.
    1 Department of Medical Genetics, Gazi University Faculty of Medicine , Ankara, Turkey .
    Background: Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant disease characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax; its cause is a heterozygous mutation in the FLCN gene. Colorectal polyps and carcinoma have also been reported in BHDS. FLCN mutations can be detected in patients with isolated primary spontaneous pneumothorax (PSP), so PSP may present as part of BHDS. Read More

    Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.
    Biomed Res Int 2017 12;2017:8751384. Epub 2017 Jul 12.
    Department of Respiratory Medicine, Diagnosis and Treatment Center of Respiratory Disease, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China.
    Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997) are mainly responsible for this disease. In this research, we enrolled two BHD families and applied direct sequencing of FLCN to explore the genetic lesions in them. Read More

    Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms.
    Am J Clin Dermatol 2017 Jul 10. Epub 2017 Jul 10.
    Department of Dermatology, University of California San Diego, 8899 University Center Lane, Suite 350, San Diego, CA, 92122, USA.
    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genodermatosis with malignant potential characterized by cutaneous and extracutaneous stigmata. Aberrations in the folliculin (FLCN) gene, which is located on chromosome 17, have been discovered in individuals with this condition. Over 150 unique mutations have been identified in BHD. Read More

    A Case of Recurrent Pneumothorax Associated with Birt-Hogg-Dubé Syndrome Treated with Bilateral Simultaneous Surgery and Total Pleural Covering.
    Ann Thorac Cardiovasc Surg 2017 Jul 10. Epub 2017 Jul 10.
    Department of Thoracic Surgery, Nippon Medical School Hospital, Tokyo, Japan.
    Birt-Hogg-Dubé syndrome is an autosomal dominant genetic disorder characterized by a triad of skin tumors, renal tumors, and multiple pulmonary cysts. Our patient was a 40-year-old man with a history of recurrent bilateral pneumothorax and a family history of pneumothorax. The patient visited our department with chest pain and was diagnosed with left pneumothorax based on a chest X-ray. Read More

    Lung ultrasound has limited diagnostic value in rare cystic lung diseases: a cross-sectional study.
    Eur Clin Respir J 2017 1;4(1):1330111. Epub 2017 Jan 1.
    Department of Respiratory Medicine, Odense University Hospital, Odense C, Denmark.
    Background: Lung ultrasound (LUS) used to identify interstitial syndrome (IS) and pleural thickening related to diffuse parenchymal lung disease (DPLD) has shown significant correlations with ground glass opacity (GGO) on high-resolution computed tomography (HRCT). However, the applicability of LUS in patients with DPLD subtypes as rare cystic lung diseases has not previously been investigated. This study aimed to observe if distinctive LUS findings could be found in patients with lymphangioleiomyomatosis (LAM), pulmonary Langerhans cell histiocytosis (PLCH), and Birt-Hogg-Dubé syndrome (BHDS). Read More

    Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion.
    Fam Cancer 2017 Jun 16. Epub 2017 Jun 16.
    Massachusetts General Hospital Cancer Center, Boston, MA, 02114, USA.
    Birt-Hogg-Dube (BHD) disease is an autosomal dominant cancer syndrome characterized by benign skin tumors, renal cancer and spontaneous pneumothorax and is caused by mutations in the Folliculin (FLCN) gene. Benign skin tumors and pneumothorax occur in the majority of patients affected by BHD syndrome, but only 30-45% of them develop renal cell carcinoma (RCC) with a median age of diagnosis at 48. The earliest onset of RCC in a BHD patient has been reported at age 20. Read More

    Spontaneous pneumothorax in diffuse cystic lung diseases.
    Curr Opin Pulm Med 2017 Jul;23(4):323-333
    aDepartment of Internal Medicine, University of Cincinnati, Cincinnati, Ohio, USAbPleural Medicine Unit, Institute for Respiratory HealthcDepartment of Respiratory Medicine, Sir Charles Gairdner HospitaldSchool of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, AustraliaeDivision of Pulmonary, Critical Care and Sleep Medicine, University of CincinnatifMedical Service, Veterans Affairs Medical Center, Cincinnati, Ohio, USA.
    Purpose Of Review: Diffuse cystic lung diseases (DCLDs) are a heterogeneous group of disorders with varying pathophysiologic mechanisms that are characterized by the presence of air-filled lung cysts. These cysts are prone to rupture, leading to the development of recurrent spontaneous pneumothoraces. In this article, we review the epidemiology, clinical features, and management DCLD-associated spontaneous pneumothorax, with a focus on lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, and pulmonary Langerhans cell histiocytosis. Read More

    Renal cell cancers: unveiling the hereditary ones and saving lives-a tailored diagnostic approach.
    Int Urol Nephrol 2017 May 31. Epub 2017 May 31.
    Department of Urology, Kent and Canterbury Hospital, Canterbury, UK.
    The prevalence of RCC in Europe is 2-3% and increasing every year. Hereditary predisposition is found in 5-8% of all RCC cases. Hereditary syndromes associated with RCC include: Von Hippel-Lindau, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube', hereditary leiomyomatosis, succinate dehydrogenase's deficiency, tuberous sclerosis complex and Cowden's syndrome. Read More

    Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
    Orphanet J Rare Dis 2017 May 30;12(1):104. Epub 2017 May 30.
    McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005, China.
    Background: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Read More

    CHOROIDAL MELANOMA, SECTOR MELANOCYTOSIS, AND RETINAL PIGMENT EPITHELIAL MICRODETACHMENTS IN BIRT-HOGG-DUBÉ SYNDROME.
    Retin Cases Brief Rep 2017 May 22. Epub 2017 May 22.
    Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
    Purpose: Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant condition that can predispose patients to numerous cutaneous fibrofolliculomas and other cutaneous lesions, pulmonary cysts with spontaneous pneumothorax, and multifocal renal tumors and cancer. The genetic mutations responsible for BHDS are related to tumor suppression and the mammalian target of rapamycin (mTOR) pathway. Previous reports of the ocular findings in BHDS include eyelid fibrofolliculomas, "flecked chorioretinopathy," and one report of choroidal melanoma. Read More

    Birt-Hogg-Dubé Syndrome - report of two cases with two new mutations.
    J Dermatol Case Rep 2017 Mar 31;11(1):12-15. Epub 2017 Mar 31.
    Dermatology Department of Hospital de Santarém EPE, Santarém, Portugal.
    Introduction: Birt-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 folliculin gene (FLCN) on chromosome 17p11. Read More

    Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
    BMC Med Genet 2017 May 12;18(1):53. Epub 2017 May 12.
    Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
    Background: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Read More

    Birt-Hogg-Dubé syndrome: a case report and a review of the literature.
    Eur Clin Respir J 2017 20;4(1):1292378. Epub 2017 Feb 20.
    Department of Respiratory Diseases and Allergy, Aarhus University Hospital , Aarhus , Denmark.
    Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and management of the patients with BHDS are lacking. Read More

    C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease.
    Traffic 2017 May 23;18(5):267-276. Epub 2017 Mar 23.
    Department of Cell Biology, Yale University School of Medicine, New Haven, Connecticut.
    The discovery that expansion of a hexanucleotide repeat within a noncoding region of the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia raised questions about C9orf72 protein function and potential disease relevance. The major predicted structural feature of the C9orf72 protein is a DENN (differentially expressed in normal and neoplastic cells) domain. As DENN domains are best characterized for regulation of specific Rab GTPases, it has been proposed that C9orf72 may also act through regulation of a GTPase target. Read More

    Diagnosis and treatment of cystic lung disease.
    Korean J Intern Med 2017 Mar 28;32(2):229-238. Epub 2017 Feb 28.
    Division of Respiratory and Critical Care Medicine, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
    Cystic lung disease (CLD) is a group of lung disorders characterized by the presence of multiple cysts, defined as air-filled lucencies or low-attenuating areas, bordered by a thin wall (usually < 2 mm). The recognition of CLDs has increased with the widespread use of computed tomography. This article addresses the mechanisms of cyst formation and the diagnostic approaches to CLDs. Read More

    Structured assessment and followup for patients with hereditary kidney tumour syndromes.
    Can Urol Assoc J 2016 Jul-Aug;10(7-8):E214-E222. Epub 2016 Jul 12.
    Section of Urology, Department of Surgery, University of Manitoba, Winnipeg, MB, Canada.
    Introduction: Optimal clinical assessment and subsequent followup of patients with or suspected of having a hereditary renal cell carcinoma syndrome (hRCC) is not standardized and practice varies widely. We propose protocols to optimize these processes in patients with hRCC to encourage a more uniform approach to management that can then be evaluated.

    Methods: A review of the literature, including existing guidelines, was carried out for the years 1985-2015. Read More

    Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome.
    Ann Am Thorac Soc 2017 May;14(5):706-713
    1 Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, College of Medicine, University of Cincinnati, Cincinnati, Ohio.
    Rationale: Spontaneous pneumothorax is a common complication of Birt-Hogg-Dubé syndrome (BHD).

    Objectives: The optimal approach to treatment and prevention of BHD-associated spontaneous pneumothorax, and to advising patients with BHD regarding risk of pneumothorax associated with air travel, is not well established.

    Methods: Patients with BHD were recruited from the Rare Lung Diseases Clinic Network and the BHD Foundation and surveyed about disease manifestations and air travel experiences. Read More

    Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.
    BMC Pulm Med 2017 Feb 21;17(1):43. Epub 2017 Feb 21.
    Department of Respiratory Medicine, Shandong Provincial Hospital affiliated to Shandong University, 324 Jingwu Road, Jinan, Shandong, 250021, China.
    Background: The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17. BHD commonly presents cutaneous fibrofolliculomas, pulmonary cysts, renal cell carcinoma, and recurrent pneumothoraxes. Read More

    Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.
    PLoS One 2017 2;12(2):e0170713. Epub 2017 Feb 2.
    Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
    Purpose: Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes folliculin (FLCN) and is inherited in an autosomal dominant manner. BHD is commonly accompanied by fibrofolliculomas, renal tumors, multiple pulmonary cysts, and spontaneous pneumothorax. The aim of this study was to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to evaluate further the characteristics of BHD in Korea. Read More

    An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.
    Head Neck Pathol 2017 Jan 21. Epub 2017 Jan 21.
    Department of Histopathology, King's College Hospital, London, SE5 9R, UK.
    Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). Read More

    Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome.
    Chin J Cancer 2017 Jan 9;36(1). Epub 2017 Jan 9.
    Department of Urology, Institute of Urology, National Urological Cancer Center, Peking University First Hospital, Peking University, No. 8, Xishiku Street, Xicheng District, Beijing, 100034, P. R. China.
    Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Read More

    Nutrient-induced FNIP degradation by SCFβ-TRCP regulates FLCN complex localization and promotes renal cancer progression.
    Oncotarget 2017 Feb;8(6):9947-9960
    Center for Advanced Stem Cell and Regenerative Research, Tohoku University Graduate School of Dentistry, Sendai 980-8575, Japan.
    Folliculin-interacting protein 1 and 2 (FNIP1 and FNIP2) play critical roles in preventing renal malignancy through their association with the tumor suppressor FLCN. Mutations in FLCN are associated with Birt-Hogg-Dubé (BHD) syndrome, a rare disorder with increased risk of renal cancer. Recent studies indicated that FNIP1/FNIP2 double knockout mice display enlarged polycystic kidneys and renal carcinoma, which phenocopies FLCN knockout mice, suggesting that these two proteins function together to suppress renal cancer. Read More

    Birt-Hogg-Dubé syndrome in an Indonesian patient with folliculin gene mutation.
    Respirol Case Rep 2016 Nov 27;4(6):e00199. Epub 2016 Oct 27.
    Department of Pulmonology and Respiratory Medicine Faculty of Medicine, Universitas Indonesia Jakarta Indonesia.
    Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (FLCN) gene have been confirmed as the aetiology of BHD syndrome. Read More

    Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report.
    Urologia 2017 Apr 16;84(2):116-120. Epub 2016 Dec 16.
    Department of Urology, Humanitas Gavazzeni Hospital, Bergamo - Italy.
    Objectives: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The syndrome is linked to mutations in the FLCN gene, which is preferentially expressed in the skin, kidney, and lung. The aim of our paper is to describe a case of multiple bilateral renal cancer in a patient affected by BHDS. Read More

    H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.
    Hum Mol Genet 2017 Jan;26(2):354-366
    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
    Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined. In order to determine if FLCN H255Y and K508R missense mutations promote aberrant kidney cell proliferation leading to pathogenicity, we generated mouse models expressing these mutants using BAC recombineering technology and investigated their ability to rescue the multi-cystic phenotype of Flcn-deficient mouse kidneys. Flcn H255Y mutant transgene expression in kidney-targeted Flcn knockout mice did not rescue the multi-cystic kidney phenotype. Read More

    Establishment and characterization of BHD-F59RSVT, an immortalized cell line derived from a renal cell carcinoma in a patient with Birt-Hogg-Dubé syndrome.
    Lab Invest 2017 Mar 19;97(3):343-351. Epub 2016 Dec 19.
    Department of Urology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
    Hereditary renal cell carcinomas (RCCs) are life-threatening disorders not only for the patients but also for their relatives. Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). The protein product, FLCN, functions as a tumor suppressor, and the affected patients have high risks of developing multiple RCCs. Read More

    The tumor suppressor FLCN mediates an alternate mTOR pathway to regulate browning of adipose tissue.
    Genes Dev 2016 Nov 2;30(22):2551-2564. Epub 2016 Dec 2.
    Department of Medicine and Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
    Noncanonical mechanistic target of rapamycin (mTOR) pathways remain poorly understood. Mutations in the tumor suppressor folliculin (FLCN) cause Birt-Hogg-Dubé syndrome, a hamartomatous disease marked by mitochondria-rich kidney tumors. FLCN functionally interacts with mTOR and is expressed in most tissues, but its role in fat has not been explored. Read More

    Haploinsufficiency of the folliculin gene leads to impaired functions of lung fibroblasts in patients with Birt-Hogg-Dubé syndrome.
    Physiol Rep 2016 Nov 15;4(21). Epub 2016 Nov 15.
    Divisions of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, Tokyo, Japan
    Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder caused by germline mutations in the FLCN gene, and characterized by skin fibrofolliculomas, multiple lung cysts, spontaneous pneumothorax, and renal neoplasms. Pulmonary manifestations frequently develop earlier than other organ involvements, prompting a diagnosis of BHDS However, the mechanism of lung cyst formation and pathogenesis of pneumothorax have not yet been clarified. Fibroblasts were isolated from lung tissues obtained from patients with BHDS (n = 12) and lung cancer (n = 10) as controls. Read More

    Genetic predisposition to kidney cancer.
    Semin Oncol 2016 Oct 22;43(5):566-574. Epub 2016 Sep 22.
    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD. Electronic address:
    Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Read More

    Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report.
    BMC Med Genet 2016 Nov 21;17(1):85. Epub 2016 Nov 21.
    Divisions of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3, Hongo, Bunkyo-Ku, Tokyo, 113-8431, Japan.
    Background: Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanistic target of rapamycin (mTOR) signaling pathway regulating cell growth and metabolism. Clinical manifestations in BHD syndrome is characterized by fibrofolliculomas of the skin, pulmonary cysts with or without spontaneous pneumothorax, and renal neoplasms. There has been no pulmonary neoplasm reported in BHD syndrome, although the condition is due to deleterious sequence variants in a tumor suppressor gene. Read More

    Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation.
    J Thorac Dis 2016 Oct;8(10):E1187-E1189
    Department of Surgery, Teikyo University School of Medicine, Tokyo, Japan.
    A 25-year-old male with Birt-Hogg-Dube (BHD) syndrome who developed hemothorax caused by ruptured of pulmonary arteriovenous malformation was reported. The patient was admitted to the hospital due to chest pain. A chest X-ray showed pleural fluid in his left lung, and a chest CT showed the presence of a tumor with enhanced contrast in the lower left lobe of approximately 5 cm in a diameter. Read More

    A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.
    Am J Case Rep 2016 Oct 26;17:788-792. Epub 2016 Oct 26.
    Department of General Surgery, Kawasaki Medical School, Okayama, Japan.
    BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder clinically characterized by pulmonary cysts, spontaneous pneumothorax, renal cell cancer, and skin fibrofolliculomas. The disorder is caused by germline mutations in the FLCN gene. CASE REPORT A 56-year-old female was admitted to our hospital with a diagnosis of bilateral spontaneous pneumothorax. Read More

    Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.
    Clin Genet 2016 Nov 30;90(5):403-412. Epub 2016 Jun 30.
    Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
    Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder characterized by fibrofolliculomas, pulmonary cysts and renal cell carcinomas (RCCs). The affected individuals inherit germline mutations in the folliculin gene (FLCN). We investigated the mutation spectrum and clinicopathologic findings of 312 patients from 120 different families (119 Japanese and 1 Taiwanese). Read More

    Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective.
    Ann Am Thorac Soc 2017 Jan;14(1):17-25
    3 Division of General Internal Medicine, Department of Internal Medicine, University of Cincinnati, Cincinnati, Ohio.
    Rationale: Patients without a known history of lung disease presenting with a spontaneous pneumothorax are generally diagnosed as having primary spontaneous pneumothorax. However, occult diffuse cystic lung diseases such as Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell histiocytosis (PLCH) can also first present with a spontaneous pneumothorax, and their early identification by high-resolution computed tomographic (HRCT) chest imaging has implications for subsequent management.

    Objectives: The objective of our study was to evaluate the cost-effectiveness of HRCT chest imaging to facilitate early diagnosis of LAM, BHD, and PLCH. Read More

    Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
    J Hum Genet 2017 Feb 13;62(2):151-157. Epub 2016 Oct 13.
    Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
    Pathogenic germline mutations in the folliculin (FLCN) tumor suppressor gene predispose to Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by the development of cutaneous hamartomas (fibrofolliculomas), multiple lung cysts, spontaneous pneumothoraces and renal cell cancer. In this study, we report the identification of 13 variants and three polymorphisms in the FLCN gene in 143 Danish patients or families with suspected BHD syndrome. Functional mini-gene splicing analysis revealed that two intronic variants (c. Read More

    Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report.
    Fam Cancer 2017 Jan;16(1):139-142
    Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
    When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation. Read More

    Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.
    Springerplus 2016 7;5(1):1506. Epub 2016 Sep 7.
    Clatterbridge Cancer Centre, Liverpool Heart and Chest Hospital, Liverpool, UK ; Department of Thoracic Oncology, University of Liverpool, Liverpool, UK.
    Background And Objectives: Birt-Hogg-Dubé syndrome is an autosomal dominant disorder characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell cancer due to germline folliculin (FLCN) mutations (Menko et al. in Lancet Oncol 10(12):1199-1206, 2009). The aim of this study was to evaluate the incidence of spontaneous pneumothorax in patients with BHD during or shortly after air travel and diving. Read More

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