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    507 results match your criteria Birt-Hogg-Dube Syndrome

    1 OF 11

    Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function.
    Respiration 2017 Nov 23;94(6):467-485. Epub 2017 Nov 23.
    Cystic lung diseases constitute a distinct group of rare lung disorders, among which two result from monogenic defects affecting tumor suppressor genes: lymphangioleiomyomatosis, either sporadic or associated with tuberous sclerosis complex, and Birt-Hogg-Dubé syndrome. These disorders have similarities in their clinical expression, including occurrence in young adults, multiple pulmonary cysts, recurrent pneumothorax, skin hamartomas, and renal tumors. However, they markedly differ in their gender distribution, pathogenesis, disease course, and prognosis. Read More

    Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts.
    J Dermatol Sci 2017 Nov 2. Epub 2017 Nov 2.
    Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, Tokyo, Japan; The Study Group for Pneumothorax and Cystic Lung Diseases, Tokyo, Japan.
    Background: Birt-Hogg-Dubé syndrome (BHDS) (OMIM #135150) is an autosomal dominant disease, characterized by fibrofolliculomas (FFs) of the skin, pulmonary cysts with/without pneumothorax, and renal tumors. The prevalence of skin manifestations reported for Japanese BHDS patients is lower (<30%) compared with that of Western countries (75∼90%), which appear to be underestimated.

    Objective: To precisely examine the prevalence of skin lesions with dermoscopy and histopathology with reference to genetic analyses. Read More

    Emerging entities in renal cell neoplasia: thyroid-like follicular renal cell carcinoma and multifocal oncocytoma-like tumours associated with oncocytosis.
    Pathology 2017 Nov 10. Epub 2017 Nov 10.
    Department of Pathology and Molecular Medicine, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
    The list of accepted entities of renal cell neoplasia has burgeoned since the turn of the century through recognition of rare tumour types and the discovery of genetic mutations driving renal neoplasia syndromes. This growth has not finished and in this report we present examples of each of these types which were not included in the 2016 World Health Organization classification of renal neoplasia, but are candidates for inclusion in the next edition of the classification. Thyroid-like follicular renal cell carcinoma is a rare tumour type with a distinctive microscopic appearance resembling follicles of the thyroid gland. Read More

    Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene.
    Korean J Thorac Cardiovasc Surg 2017 Oct 5;50(5):386-390. Epub 2017 Oct 5.
    Departments of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea.
    Birt-Hogg-Dubé syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. Read More

    Biphasic Papillary Renal Cell Carcinoma Is a Rare Morphologic Variant with Frequent Multifocality: A Study of 28 Cases.
    Histopathology 2017 Nov 8. Epub 2017 Nov 8.
    Charles University, Pilsen, Czech Republic.
    Aims: To further characterize biphasic squamoid renal cell carcinoma (RCC), a recently proposed variant of papillary RCC.

    Methods And Results: We identified 28 tumors from multiple institutions. They typically demonstrated two cell populations - larger cells with eosinophilic cytoplasm and higher-grade nuclei, surrounded by smaller, amphophilic cells with scanty cytoplasm. Read More

    Birt-Hogg-Dubé Syndrome: Another Battle for a Retired Navy Seal.
    Mil Med 2017 May;182(5):e1820-e1822
    Dermatology Service, Walter Reed National Military Medical Center, 8901 Rockville Pike, Bethesda, MD 20889.
    Birt-Hogg-Dubé syndrome is an autosomal dominant cancer syndrome characterized by upper torso and facial fibrofolliculomas, acrochordons, pneumothorax, and renal cell carcinoma. Although a rare syndrome, its prevalence is likely underestimated. Additionally, since it presents in patients' 20s or 30s, otherwise healthy members of the military may be affected, as with the index patient discussed in this case report. Read More

    Familial Multiple Trichodiscomas: Case Report and Concise Review.
    Cureus 2017 Aug 23;9(8):e1596. Epub 2017 Aug 23.
    Department of Dermatology, University of California, San Diego.
    Familial multiple trichodiscomas is a condition characterized by multiple asymptomatic skin papules. The inheritance pattern has not been established. The skin lesions usually appear in childhood. Read More

    Birt-Hogg-Dubé syndrome: awareness is important!
    BMJ Case Rep 2017 Oct 23;2017. Epub 2017 Oct 23.
    Department of Pathology, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
    Birt-Hogg-Dubé (BHD) is a rare syndrome of inherited renal cell carcinomas, characterised by cutaneous lesions and pulmonary cysts and pneumothorax in a vast majority of the patients. Awareness of this syndrome is important in order to refer patients for genetic counselling and personalised follow-up as soon as possible. We describe a case of a 30-year-old female referred to our institution due to incidental discovery of solid bilateral renal masses. Read More

    The ABCs of BHD: An In-Depth Review of Birt-Hogg-Dubé Syndrome.
    AJR Am J Roentgenol 2017 Dec 5;209(6):1291-1296. Epub 2017 Oct 5.
    1 Department of Diagnostic Radiology, University of Texas MD Anderson Cancer, 1515 Holcombe Blvd, Unit 1473, Houston, TX 77030.
    Objective: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant inherited syndrome involving multiple organs. In young patients, renal neoplasms that are multiple, bilateral, or both, such as oncocytomas, chromophobe renal cell carcinoma (RCC), hybrid chromophobe RCC-oncocytomas, clear cell RCC, and papillary RCC, can suggest BHD syndrome. Extrarenal findings, including dermal lesions, pulmonary cysts, and spontaneous pneumothoraces, also aid in diagnosis. Read More

    Abdominal Imaging Findings in Neurocutaneous Syndromes: Looking Below the Diaphragm.
    AJR Am J Roentgenol 2017 Dec 5;209(6):1197-1208. Epub 2017 Oct 5.
    1 Department of Radiology, Vancouver General Hospital and University of British Columbia, 899 W 12th Ave, Vancouver, BC V5Z 1M9, Canada.
    Objective: Neurocutaneous syndromes are a heterogeneous group of multisystemic disorders. We review the multimodality imaging findings in the disorders with a propensity for intraabdominal disease. We highlight more recently recognized disease patterns and discuss imaging surveillance optimization. Read More

    FLCN: The causative gene for Birt-Hogg-Dubé syndrome.
    Gene 2018 Jan 29;640:28-42. Epub 2017 Sep 29.
    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, United States. Electronic address:
    Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors. Although the encoded protein, folliculin (FLCN), has no sequence homology to known functional domains, x-ray crystallographic studies have shown that the C-terminus of FLCN has structural similarity to DENN (differentially expressed in normal cells and neoplasia) domain proteins that act as guanine nucleotide exchange factors (GEFs) for small Rab GTPases. FLCN forms a complex with folliculin interacting proteins 1 and 2 (FNIP1, FNIP2) and with 5' AMP-activated protein kinase (AMPK). Read More

    Novel clinical scoring system to identify patients with pneumothorax with suspicion for Birt-Hogg-Dubé syndrome.
    Respirology 2017 Sep 27. Epub 2017 Sep 27.
    Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, Tokyo, Japan.
    Background And Objective: Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary disease that presents with multiple lung cysts and pneumothorax (PTX). Although some reports propose that findings from chest computed tomography enable one to distinguish BHDS from primary spontaneous pneumothorax (PSP), it is still unclear whether clinical features are useful for identifying patients with suspicion of BHDS from those with PTX.

    Methods: We retrospectively reviewed the medical records of patients with PTX who underwent video-assisted thoracoscopic surgery at Nissan Tamagawa Hospital from January 2012 to December 2015. Read More

    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 Oct 14;21(10):632-634. 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

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