533 results match your criteria Birt-Hogg-Dube Syndrome
BMJ Case Rep 2018 Jun 21;2018. Epub 2018 Jun 21.
General Surgery, Queen Elizabeth University Hospital Campus, Glasgow, UK.
A 32-year-old man was referred to our surgical unit with a left adrenal lesion. He was previously diagnosed with Birt-Hogg-Dube syndrome after presenting with a left pneumothorax and an incidental finding of a right apical lung mass. This syndrome is characterised commonly by benign skin hamartomas, recurrent pneumothoraces and an increased risk of renal tumours. Read More
PLoS One 2018 13;13(6):e0197973. Epub 2018 Jun 13.
The Department of Comparative Medicine, University of Washington, Seattle, Washington, United States of America.
Birt-Hogg-Dube' Syndrome (BHDS) is a rare genetic disorder in humans characterized by skin hamartomas, lung cysts, pneumothorax, and increased risk of renal tumors. BHDS is caused by mutations in the BHD gene, which encodes for Folliculin, a cytoplasmic adapter protein that binds to Folliculin interacting proteins-1 and -2 (Fnip1, Fnip2) as well as the master energy sensor AMP kinase (AMPK). Whereas kidney-specific deletion of the Bhd gene in mice is known to result in polycystic kidney disease (PKD) and renal cell carcinoma, the roles of Fnip1 in renal cell development and function are unclear. Read More
Oncotarget 2018 Apr 24;9(31):22220-22229. Epub 2018 Apr 24.
Department of Urology, SUNY Upstate Medical University, Syracuse, NY, USA.
Birt-Hogg-Dubé (BHD) is an autosomal dominant genetic syndrome caused by germline mutations in the gene that predisposes patients to develop renal tumors. Renal angiomyolipoma (AML) is not a renal tumor sub-type associated with BHD. AML is, however, a common phenotypic manifestation of Tuberous Sclerosis Complex (TSC) syndrome caused by mutations in either the or tumor suppressor genes. Read More
Hum Mol Genet 2018 May 14. Epub 2018 May 14.
Department of Urology.
Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. Read More
Orphanet J Rare Dis 2018 May 15;13(1):78. Epub 2018 May 15.
Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, Tokyo, Japan.
Background: Birt-Hogg-Dubé syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pulmonary cysts are innumerable and widely dispersed and cannot all be removed. We recently described a total pleural covering (TPC) that covers the entire visceral pleura with oxidized regenerated cellulose (ORC) mesh. Read More
Head Neck Pathol 2018 May 9. Epub 2018 May 9.
Department of Ear, Nose and Throat, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust, Glossop Road, Sheffield, S10 2JF, UK.
The autosomal dominant Birt-Hogg-Dubé syndrome is known to be associated with skin, lung and kidney lesions. It is caused by heterozygous germline mutations in the folliculin gene and has a high penetrance. We report the case of a 51 year old woman with Birt-Hogg-Dubé syndrome who presented with a laryngeal mass. Read More
BMC Med Genomics 2018 May 2;11(1):42. Epub 2018 May 2.
Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
Background: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. Read More
World J Nucl Med 2018 Apr-Jun;17(2):123-125
Department of Nuclear Medicine, Royal Liverpool University Hospital, Liverpool, Merseyside, UK.
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant genetic disorder characterized by small papular skin lesions (fibrofolliculomas) causing susceptibility to kidney cancer, renal and pulmonary cysts, spontaneous pneumothoraces, and several noncutaneous tumors. We report a case of a 67-year-old woman, with a previous history of right hemithyroidectomy for adenomatous lesion. She presented with a swelling in the right thyroid bed that on subsequent biopsy revealed features of metastatic carcinoma. Read More
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
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
QJM 2018 Apr 14. Epub 2018 Apr 14.
Tallaght Hospital, Tallaght, Dublin 24, Ireland.
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
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
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
Semin Diagn Pathol 2018 May 14;35(3):184-192. 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
Mol Genet Genomic Med 2018 May 13;6(3):332-338. 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
Arch Bronconeumol 2018 Jan 31. Epub 2018 Jan 31.
Servicio de Cirugía Torácica, Hospital Clínic, Barcelona, España.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Br J Dermatol 2018 Feb 7;178(2):e132-e133. Epub 2018 Jan 7.
Institute of Human Genetics, University Hospital, Ludwig-Maximilian University of Munich, Frauenlobstraße 9-11, D-80337, Munich, Germany.
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
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
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
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
Hong Kong Med J 2017 Aug;23(4):416.e4-5
Clinical Genetic Service, Department of Health, 3/F Cheung Sha Wan Jockey Club Clinic, 2 Kwong Lee Road, Shamshuipo, Hong Kong.
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
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
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
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
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