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    472 results match your criteria Birt-Hogg-Dube Syndrome

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    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 Mar 1. Epub 2017 Mar 1.
    University of Cincinnati Medical Center, Pulmonary, Critical Care, and Sleep Medicine, Cincinnati, Ohio, United States.
    Rationale: Spontaneous pneumothorax is a common complication of Birt-Hogg-Dubé syndrome (BHD). The optimal approach to treatment and prevention of BHD-associated spontaneous pneumothorax, and to advising BHD patients 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 2016 Dec 16. 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

    Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.
    Am J Med Genet A 2016 Dec 19;170(12):3323-3326. Epub 2016 Sep 19.
    Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
    Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disease characterised by benign cutaneous lesions, pulmonary cysts, and an increased risk of renal tumors. This rare condition is due to a mutation in the folliculin (FLCN) gene on chromosome 17q11.2, which has a role in the mechanistic/mammalian target of rapamycin (mTOR) signaling pathway of tumorigenesis. Read More

    Recurrent spontaneous pneumothoraces and bullous emphysema. A novel mutation causing Birt-Hogg-Dube syndrome.
    Respir Med Case Rep 2016 23;19:106-8. Epub 2016 Aug 23.
    University of Ottawa, The Ottawa Hospital, Division of Respiratory Medicine, Canada.
    Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin (FLCN) gene. Read More

    Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.
    Eur J Med Genet 2016 Oct 12;59(10):499-501. Epub 2016 Sep 12.
    Center for Human Genetics, KU Leuven, Leuven, Belgium. Electronic address:
    Smith-Magenis syndrome (SMS) is a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. We report a 57 year-old man with SMS who presents bilateral renal tumors. Read More

    Multiple angiomatous nodules: a novel skin tumor in Birt-Hogg-Dubé syndrome.
    J Cutan Pathol 2016 Dec 3;43(12):1197-1202. Epub 2016 Oct 3.
    Pathology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
    Birt-Hogg-Dubé syndrome (BHDS), first described in 1977, is a rare autosomal dominant disorder, linked to germline mutations in the FLCN (folliculin) gene. Patients may present with different skin tumors, pulmonary cysts with recurrent spontaneous pneumothorax, and renal cancers, but it has also been estimated that about 25% of carriers older than 20 years do not show skin involvement. So far, besides the triad of skin lesions of the original description (fibrofolliculomas, trichodischomas and acrochordons), a wide range of neoplastic and non-neoplastic skin conditions have been reported, i. Read More

    C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.
    Mol Biol Cell 2016 Oct 24;27(20):3040-3051. Epub 2016 Aug 24.
    Department of Cell Biology and Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University School of Medicine, New Haven, CT 06510
    Hexanucleotide expansion in an intron of the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia. However, beyond bioinformatics predictions that suggested structural similarity to folliculin, the Birt-Hogg-Dubé syndrome tumor suppressor, little is known about the normal functions of the C9orf72 protein. To address this problem, we used genome-editing strategies to investigate C9orf72 interactions, subcellular localization, and knockout (KO) phenotypes. Read More

    Birt-Hogg-Dubé Syndrome.
    Clin Chest Med 2016 09 25;37(3):475-86. Epub 2016 Jun 25.
    Department of Pulmonary Medicine, Cleveland Clinic, 9500 Euclid Avenue A90, Cleveland, OH 44195, USA.
    Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the Folliculin gene and is characterized by the formation of fibrofolliculomas, early onset renal cancers, pulmonary cysts, and spontaneous pneumothoraces. The exact pathogenesis of tumor and lung cyst formation in BHD remains unclear. There is great phenotypic variability in the clinical features of BHD, and patients can present with any combination of skin, pulmonary, or renal findings. Read More

    Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax.
    QJM 2017 Jan 2;110(1):23-26. Epub 2016 Aug 2.
    Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, People's Republic of China
    Background: Familial spontaneous pneumothorax is one of the characteristics of Birt-Hogg-Dubé syndrome (BHDS), which is an autosomal dominant disease caused by the mutation of folliculin (FLCN).

    Aim: To investigate the mutation of FLCN gene in a familial spontaneous pneumothorax.

    Design: Prospective case study. Read More

    Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.
    Pediatr Dermatol 2016 Sep 28;33(5):e294-5. Epub 2016 Jul 28.
    Division of Dermatology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
    Birt-Hogg-Dubé syndrome is an uncommon genodermatosis characterized by hair follicle hamartomas and an increased risk of pneumothorax and renal cell carcinoma. Recognition of cutaneous manifestations is essential because it allows for early screening and management of systemic complications. We present the case of an 8-year-old boy with a recently described cystic and comedonal variant of the classic fibrofolliculoma, which had been present since birth. Read More

    Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.
    BMC Dev Biol 2016 Jul 8;16(1):23. Epub 2016 Jul 8.
    School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.
    Background: Birt-Hogg-Dubé syndrome (BHD) is a dominantly inherited familial cancer syndrome characterised by the development of benign skin fibrofolliculomas, multiple lung and kidney cysts, spontaneous pneumothorax and susceptibility to renal cell carcinoma. BHD is caused by mutations in the gene encoding Folliculin (FLCN). Little is known about what FLCN does in a healthy individual and how best to treat those with BHD. Read More

    Glycogen: A must have storage to survive stressful emergencies.
    Worm 2016 Apr-Jun;5(2):e1156831. Epub 2016 Mar 4.
    Goodman Cancer Research Center, McGill University, Montréal, Québec, Canada; Department of Biochemistry, McGill University, Montréal, Québec, Canada.
    Mechanisms of adaptation to acute changes in osmolarity are fundamental for life. When exposed to hyperosmotic stress, cells and organisms utilize conserved strategies to prevent water loss and maintain cellular integrity and viability. The production of glycerol is a common strategy utilized by the nematode Caenorhabditis elegans (C. Read More

    A rare cause of cystic lung disease - Birt-Hogg-Dubé syndrome.
    Respir Med Case Rep 2016 29;18:90-2. Epub 2016 May 29.
    Dept. of Respiratory Medicine, St Vincent's University Hospital and School of Medicine and Medical Science, UCD Conway Institute, University College Dublin, Belfield, Dublin, 4, Ireland.
    Birt-Hogg-Dubé syndrome, initially described in 1977, is an autosomal dominant inherited condition characterised by basal pulmonary cysts often resulting in pneumothorax, renal tumours and cutaneous involvement. Lung cysts have been described in up to 90% of patients with a corresponding risk of pneumothorax of 50 times greater than the normal population. We describe here a case of Birt-Hogg-Dubé diagnosed in the 9th decade of life and discuss the radiological findings and clinical implications. Read More

    Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.
    Proc Natl Acad Sci U S A 2016 06 14;113(26):E3706-15. Epub 2016 Jun 14.
    Medical Research Council Human Immunology Unit, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, United Kingdom;
    Folliculin (FLCN) is a tumor-suppressor protein mutated in the Birt-Hogg-Dubé (BHD) syndrome, which associates with two paralogous proteins, folliculin-interacting protein (FNIP)1 and FNIP2, forming a complex that interacts with the AMP-activated protein kinase (AMPK). Although it is clear that this complex influences AMPK and other metabolic regulators, reports of its effects have been inconsistent. To address this issue, we created a recessive loss-of-function variant of Fnip1 Homozygous FNIP1 deficiency resulted in profound B-cell deficiency, partially restored by overexpression of the antiapoptotic protein BCL2, whereas heterozygous deficiency caused a loss of marginal zone B cells. Read More

    Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.
    Medicine (Baltimore) 2016 May;95(22):e3695
    From the Department of Thyroid and Neck Tumor, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, and Oncology Key Laboratory of Cancer Prevention and Therapy (LD, MG, W-JH, X-QZ, Y-GL, YY), Tianjin, China; and Department of Neuro-Oncology (X-LL), University of Texas MD Anderson Cancer Center, Houston, TX.
    Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for whole exon sequencing performed by Sanger sequencing. Read More

    An 18-year-old man with recurrent pneumothorax since he was 10-year-old.
    Pediatr Pulmonol 2016 Dec 3;51(12):E41-E43. Epub 2016 Jun 3.
    Department of Paediatric Pulmonology, Ankara University Faculty of Medicine, Ankara, Turkey.
    An 18-year-old male patient was referred to the department of pediatric pulmonology with a history of recurrent pneumothorax. Initial pneumothorax occurred at the age of 10. Following diagnosis of congenital lobar emphysema, he had five episodes of pneumothorax and subsequently underwent right-lower lobe anterobasal segmentectomy. Read More

    Diffuse Cystic Lung Diseases: Diagnostic Considerations.
    Semin Respir Crit Care Med 2016 Jun 27;37(3):457-67. Epub 2016 May 27.
    Developmental Pediatrician, PECAT, Children's Hospital Westmead, Sydney, New South Wales, Australia.
    Diffuse cystic lung disease (DCLD) is a group of heterogeneous diseases that present as diffuse cystic changes in the lung on computed tomography of the chest. Most DCLD diseases are rare, although they might resemble common diseases such as emphysema and bronchiectasis. Main causes of DCLD include lymphangioleiomyomatosis, Birt-Hogg-Dubé syndrome, pulmonary Langerhans cell histiocytosis, lymphoid interstitial pneumonia, amyloidosis, light-chain deposition disease, Sjögren syndrome, and primary or metastatic neoplasm. Read More

    A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.
    Respir Res 2016 May 27;17(1):64. Epub 2016 May 27.
    Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, People's Republic of China.
    Background: Primary spontaneous pneumothorax (PSP) or pulmonary cysts is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by heterozygous mutations in FLCN gene. Most of the mutations are SNVs and small indels, and there are also approximately 10 % large intragenic deletions and duplications of the mutations. These molecular findings are generally obtained by disparate methods including Sanger sequencing and Multiple Ligation-dependent Probe Amplification in the clinical laboratory. Read More

    Cystic Lung Diseases: Algorithmic Approach.
    Chest 2016 Oct 13;150(4):945-965. Epub 2016 May 13.
    Department of Radiology, NYU-Langone Medical Center.
    Cysts are commonly seen on CT scans of the lungs, and diagnosis can be challenging. Clinical and radiographic features combined with a multidisciplinary approach may help differentiate among various disease entities, allowing correct diagnosis. It is important to distinguish cysts from cavities because they each have distinct etiologies and associated clinical disorders. Read More

    Skin manifestations associated with kidney cancer.
    Semin Oncol 2016 Jun 23;43(3):408-12. Epub 2016 Feb 23.
    Levine Cancer Institute at Carolinas Medical Center, Charlotte, NC.
    Kidney cancer is a heterogenous disease encompassing several distinct clinicopathologic entities with different underlying molecular aberrations and clinical outcomes. Renal cell carcinoma (RCC) has been shown to evoke immunologic responses that can impact the natural history of disease and clinical presentation. It is important to recognize atypical presentations of disease, including cutaneous manifestations. Read More

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