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Nishant Gupta, Dale Langenderfer, Francis X McCormack, Daniel P Schauer, Mark H Eckman
RATIONALE: Patients without a known history of lung disease presenting with a spontaneous pneumothorax are generally diagnosed as 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) imaging of chest has implications for subsequent management...
October 13, 2016: Annals of the American Thoracic Society
Maria Rossing, Anders Albrechtsen, Anne-Bine Skytte, Uffe B Jensen, Lilian B Ousager, Anne-Marie Gerdes, Finn C Nielsen, Thomas vO Hansen
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...
October 13, 2016: Journal of Human Genetics
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
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...
October 8, 2016: Familial Cancer
P C Johannesma, I van de Beek, J W T van der Wel, M A Paul, A C Houweling, M A Jonker, J H T M van Waesberghe, R Reinhard, Th M Starink, R J A van Moorselaar, F H Menko, P E Postmus
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. METHODS: A questionnaire was sent to a cohort of 190 BHD patients and the medical files of these patients were evaluated...
2016: SpringerPlus
Eryn Dow, Ingrid Winship
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. This case illustrates a patient with BHD and a renal angiomyolipoma, a neoplastic lesion not usually associated with BHD but common in Tuberous Sclerosis Complex (TSC)...
September 19, 2016: American Journal of Medical Genetics. Part A
Andrew Burkett, Niamh Coffey, Eva Tomiak, Nha Voduc
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.
2016: Respiratory Medicine Case Reports
Leila Dardour, Pieter Verleyen, Karl Lesage, Maureen Holvoet, Koen Devriendt
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. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors. The present observation suggests that the follow-up of patients with SMS should also focus on possible manifestations of BHDS...
October 2016: European Journal of Medical Genetics
C Nikolaidou, E Moscarella, C Longo, S Rosato, A Cavazza, S Piana
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...
September 6, 2016: Journal of Cutaneous Pathology
Joseph Amick, Agnes Roczniak-Ferguson, Shawn M Ferguson
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. We found that C9orf72 robustly interacts with SMCR8 (a protein of previously unknown function)...
October 15, 2016: Molecular Biology of the Cell
Nishant Gupta, Bernie Y Sunwoo, Robert M Kotloff
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. More than 80% of adult patients with BHD have pulmonary cysts on high-resolution computed tomography scan of the chest...
September 2016: Clinics in Chest Medicine
Jian-Fang Zhu, Xiao-Qing Shen, Feng Zhu, Li Tian
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. METHODS: Clinical and genetic data of a Chinese family with four patients who presented spontaneous pneumothorax in the absence of skin lesions or renal tumors were collected...
August 2, 2016: QJM: Monthly Journal of the Association of Physicians
S Verma, C Tyagi, S Goyal, B Pandey, S Jamal, A Singh, A Grover
No abstract text is available yet for this article.
August 2, 2016: Journal of Biomolecular Structure & Dynamics
Jessica Sprague, Joseph W Landau
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.
September 2016: Pediatric Dermatology
Emma J Kenyon, Monique N H Luijten, Harmeet Gill, Nan Li, Matthew Rawlings, James C Bull, Yavor Hadzhiev, Maurice A M van Steensel, Eamonn Maher, Ferenc Mueller
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. As a first approach to developing a vertebrate model for BHD we aimed to identify the temporal and spatial expression of flcn transcripts in the developing zebrafish embryo...
2016: BMC Developmental Biology
Elite Possik, Arnim Pause
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. elegans) and many other organisms to survive hyperosmotic stress. Specifically, the transcriptional upregulation of glycerol-3-phosphate dehydrogenase, a rate-limiting enzyme in the production of glycerol, has been previously implicated in many model organisms...
April 2016: Worm
P Minnis, P Riddell, M P Keane
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.
2016: Respiratory Medicine Case Reports
Erin S DeMartino, Carilyn N Wieland, Mark S Allen, James P Utz
No abstract text is available yet for this article.
September 1, 2016: American Journal of Respiratory and Critical Care Medicine
Owen M Siggs, Alexander Stockenhuber, Mukta Deobagkar-Lele, Katherine R Bull, Tanya L Crockford, Bethany L Kingston, Greg Crawford, Consuelo Anzilotti, Violetta Steeples, Sahar Ghaffari, Gabor Czibik, Mohamed Bellahcene, Hugh Watkins, Houman Ashrafian, Benjamin Davies, Angela Woods, David Carling, Arash Yavari, Bruce Beutler, Richard J Cornall
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...
June 28, 2016: Proceedings of the National Academy of Sciences of the United States of America
Beau DiCicco, Weilan Johnson, James Allred, Anthony C Soldano, William M Ramsdell
No abstract text is available yet for this article.
May 2016: JAAD Case Reports
Li Dong, Ming Gao, Wei-Jing Hao, Xiang-Qian Zheng, Yi-Gong Li, Xiao-Long Li, Yang Yu
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. Eight mutations, including 5 mutations, which were mapped in noncoding region, 1 synonymous mutation, and 2 missense mutations, were detected in the FLCN gene in both patients...
May 2016: Medicine (Baltimore)
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