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    1 OF 11

    [A Case of Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dubé Syndrome].
    Hinyokika Kiyo 2018 Mar;64(3):107-110
    The Department of Urology, Kobe City Medical Center General Hospital.
    A 61-year-old man with a left renal mass, which was detected by ultrasound during a routine health examination, was referred to our department. The patient had a surgical history of two pneumothorax operations, and the patient's brother also had a history of pneumothorax surgery. A case of Birt-Hogg-Dubé (BHD) syndrome was suspected based on patient history. Read More

    Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.
    World J Urol 2018 Apr 21. Epub 2018 Apr 21.
    Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre, Cambridge, CB2 0QQ, UK.
    Purpose: Genetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC), with around 3% of cases having a family history. A greater knowledge of the genetics of inherited RCC has the potential to translate into novel therapeutic targets for sporadic RCC.

    Methods: A literature review was performed summarising the current knowledge on hereditary RCC diagnosis, surveillance and management. Read More

    Cystic Kidney Diseases From the Adult Nephrologist's Point of View.
    Front Pediatr 2018 22;6:65. Epub 2018 Mar 22.
    Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
    Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease. However, there are various cystic kidney diseases, the onset of which occurs at different times in life and depends on the type of the disease and the causative genes involved. Read More

    Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.
    BMC Med Genet 2018 Mar 16;19(1):45. Epub 2018 Mar 16.
    Institute of Human Genetics, University Hospital, Ludwig Maximilian University of Munich, Goethestr. 29, D-80336, Munich, Germany.
    Background: Birt-Hogg-Dubé syndrome is a genetic syndrome caused by mutations in the FLCN gene. The main symptoms are lung bullae and pneumothorax, benign and malignant kidney tumors, and facial fibrofolliculoma. The risk of pneumothorax is considerable between ages 20-40 years, but decreases markedly after this age range and first-time pneumothorax after age 50 years is rare. Read More

    Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome.
    J Dtsch Dermatol Ges 2018 Mar;16(3):278-283
    Interdisciplinary Clinic for Birt-Hogg-Dubé syndrome, Institute of Clinical Radiology, University Medical Center, Ludwig Maximilians University, Munich, Germany.
    Birt-Hogg-Dubé syndrome (BHD, also referred to as Hornstein-Knickenberg syndrome) is an autosomal dominant tumor syndrome caused by mutations in the FLCN gene located on chromosome 17. Depending on their age, patients with BHD may exhibit various clinical signs and symptoms. Disease severity can vary greatly among members of the same family. Read More

    Morphological clues to the appropriate recognition of hereditary renal neoplasms.
    Semin Diagn Pathol 2018 Feb 14. Epub 2018 Feb 14.
    Department of Pathology and Laboratory Medicine, University of Tennessee Health Sciences, Memphis, USA; Department of Urology, University of Tennessee Health Sciences, Memphis, USA.
    An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma. Awareness of these clinically distinctive sub-types and their associated histologic clues will prompt the pathologist for further immunohistochemical or molecular work up, to look for clinical information to support the suspected diagnosis of familial cancer, to alert managing physician/s to look for stigmata of history of familial cancer, which will permit triaging patients and their families for appropriate genetic counseling. Read More

    Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.
    Mol Genet Genomic Med 2018 Feb 13. Epub 2018 Feb 13.
    Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
    Background: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported.

    Methods: To explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families. Read More

    [Birt-Hogg-Dubé syndrome is a rare but important cause of pneumothorax].
    Ugeskr Laeger 2018 01;180(5)
    Birt-Hogg-Dubé syndrome (BHD) is an autosomal-dominant genodermatosis manifesting as a multisystemic disorder. The most common presentation of pulmonary involvement is spontaneous pneumothorax, and it has recently been estimated, that up to 5-10% of patients with primary spontaneous pneumothorax have underlying BHD. The purpose of this case report is to stress the paramount importance of a thorough family history in patients with spontaneous pneumothorax and to recommend, that patients with a spontaneous pneumothorax and a personal or family history of pneumothorax should be screened for BHD. Read More

    Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
    BMC Med Genet 2018 Jan 22;19(1):14. Epub 2018 Jan 22.
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
    Background: Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer.

    Methods: Genomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Read More

    Hereditary kidney cancer syndromes: Genetic disorders driven by alterations in metabolism and epigenome regulation.
    Cancer Sci 2018 Mar 15;109(3):581-586. Epub 2018 Feb 15.
    Department of Urology, Yokohama City University, Yokohama, Japan.
    Although hereditary kidney cancer syndrome accounts for approximately five percent of all kidney cancers, the mechanistic insight into tumor development in these rare conditions has provided the foundation for the development of molecular targeting agents currently used for sporadic kidney cancer. In the late 1980s, the comprehensive study for hereditary kidney cancer syndrome was launched in the National Cancer Institute, USA and the first kidney cancer-associated gene, VHL, was identified through kindred analysis of von Hippel-Lindau (VHL) syndrome in 1993. Subsequent molecular studies on VHL function have elucidated that the VHL protein is a component of E3 ubiquitin ligase complex for hypoxia-inducible factor (HIF), which provided the basis for the development of tyrosine kinase inhibitors targeting the HIF-VEGF/PDGF pathway. Read More

    Birt-Hogg-Dubé syndrome: spontaneous pneumothorax as a first symptom.
    BMJ Case Rep 2018 Jan 9;2018. Epub 2018 Jan 9.
    Department of Medicine, Vejle Hospital, Vejle, Denmark.
    Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterised by benign cutaneous lesions, lung cysts, increased risk of spontaneous pneumothorax and renal cancer. It shows great heterogenous presentation within and between affected families. We report a case of a Danish female patient with recurrent pneumothoraces as the first symptom of BHDS. Read More

    Renal hybrid oncocytic/chromophobe tumor associated with multiple schwannomas: Case report and literature review.
    Medicine (Baltimore) 2017 Dec;96(48):e8939
    Department of Urology.
    Rationale: Renal hybrid oncocytic/chromophobe tumors (HOCTs) are benign tumors containing a mixture of cells with features of chromophobe renal cell carcinoma (CHRCC) and renal oncocytoma (RO). Sporadic HOCT, which means HOCT occurs in patients without Birt-Hogg-Dubé syndrome (BHDS) or renal oncocytosis, is extremely rare. In this article, we would report a new case of a patient with both sporadic HOCT and multiple Schwannomas, which is even rarer than simplex sporadic HOCT. Read More

    Recurrent renal cancer in Birt-Hogg-Dubé syndrome: A case report.
    Int J Surg Case Rep 2018 28;42:75-78. Epub 2017 Nov 28.
    Department of Surgery, Aga Khan University, Karachi, Pakistan. Electronic address:
    Introduction: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disease. It is caused by constitutional mutations in the FLCN gene. Since BHDS is a rare syndrome therefore it is unknown to many physicians. Read More

    Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-Dubé syndrome.
    PLoS One 2017 8;12(12):e0188771. Epub 2017 Dec 8.
    Divisions of Respiratory Medicine, Juntendo University Faculty of Medicine & Graduate School of Medicine, Bunkyo-Ku, Tokyo, Japan.
    Many groups developed the methods to quantitatively analyze low attenuation area (LAA) on chest CT in patients with cystic lung diseases. Especially in COPD, it was reported that the cumulative size distribution of LAA clusters follows a power law characterized by the exponent D, which reflect the fractal dimension of terminal airspace geometry. We hypoyhesized that the quantitative charateristics of LAA clusters including fractal property might indicate the different features of the progression of cysts in cystic lung diseases. Read More

    Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function.
    Respiration 2017 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 2018 Jan 2;89(1):77-84. 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 2018 Jan 11;50(1):24-36. Epub 2017 Nov 11.
    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 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 morphological variant with frequent multifocality: a study of 28 cases.
    Histopathology 2018 Apr 24;72(5):777-785. Epub 2018 Jan 24.
    Charles University, Pilsen, Czech Republic.
    Aims: To further characterise biphasic squamoid renal cell carcinoma (RCC), a recently proposed variant of papillary RCC.

    Methods And Results: We identified 28 tumours from multiple institutions. They typically showed 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 2018 Apr 27;23(4):414-418. 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

    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 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 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 (, NM_144997) are mainly responsible for this disease. In this research, we enrolled two BHD families and applied direct sequencing of 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 2018 Feb;19(1):87-101
    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 Dec 10;23(6):309-312. 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.
    : 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 2018 Jan;17(1):135-139
    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 07;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 Sep 31;49(9):1507-1512. 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 05 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

    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 gene () 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 05 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.
    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

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