672 results match your criteria Birt-Hogg-Dube Syndrome


A Novel Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review.

Front Genet 2021 1;12:636900. Epub 2021 Apr 1.

Department of Cardiothoracic Surgery, Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, Linhai, China.

Birt-Hogg-Dubé syndrome (BHDS, MIM #135150), caused by germline mutations of gene, is a rare autosomal dominant inherited disorder characterized by skin fibrofolliculomas, renal cancer, pulmonary cysts and spontaneous pneumothorax. The syndrome is considered to be under-diagnosed due to variable and atypical manifestations. Herein we present a BHDS family. Read More

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Birt-Hogg-Dubé Syndrome presenting with chronic progressive dyspnea.

Respir Med Case Rep 2021 27;33:101407. Epub 2021 Mar 27.

University of California Los Angeles, Department of Pulmonary & Critical Care Medicine, 200 UCLA Med Plaza, Los Angeles, CA, USA.

Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disease which manifests with cutaneous hamartomas, lung cysts and renal carcinomas. A wide spectrum of phenotypic expression and few visible manifestations makes BHDS a likely under-recognized entity. Diffuse cystic lung disease (DCLD) is the typical pulmonary manifestation of BHDS, which in the absence of other specific findings carries a broad differential diagnosis. Read More

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Morphological and Molecular Study of Hybrid Oncocytic/Chromophobe Tumor of the Kidney Associated with Sporadic Renal Oncocytosis and Chronic B-Cell Lymphocytic Leukemia: The Possible Contribution of Lymphoma to Renal Oncocytosis.

Pathobiology 2021 Apr 21:1-10. Epub 2021 Apr 21.

Pathology, University Hospital Virgen Macarena, University of Seville, Sevilla, Spain.

Hybrid oncocytic/chromophobe tumor (HOCT) of the kidney arising from a precursor oncocytosis not associated with the Birt-Hogg-Dubé (BHD) syndrome is an unusual and highly interesting neoplasm. Immunohistochemical and molecular findings suggest that HOCT is an entity distinct from both oncocytoma and chromophobe carcinoma. Although uncertainty persists regarding the factors predisposing to the development of HOCT, experimental findings suggest that it may arise due to the effect of toxins or in association with chronic kidney failure. Read More

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A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome.

Radiol Case Rep 2021 Jun 26;16(6):1249-1254. Epub 2021 Mar 26.

Department of Interventional Radiology, Kendall Regional Medical Center, 11750 SW 40th St, Miami, FL 33175, USA.

Birt-Hogg-Dube syndrome is a rare autosomal dominant disorder characterized by pulmonary cysts, renal tumors, and dermal lesions. This syndrome results from a mutation in the gene folliculin, located on chromosome 17p11.2. Read More

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Birt Hogg Dube syndrome: Rare family lung disease.

Tuberk Toraks 2021 Mar;69(1):102-106

Department of Chest Diseases, Celal Bayar University Faculty of Medicine, Manisa, Turkey.

Birt Hogg Dube syndrome is a rare disease characterized by autosomal dominant inherited multiple cysts in the lungs, renal tumors and skin fibrofolliculomas. It was first described in 1977 by Birt et al. In this case report, a patient who was diagnosed with symptoms and his first degree relative is presented. Read More

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A Case of Birt-Hogg-Dubé Syndrome with Renal Cancer Treated as Multiple Metastases of Cancer of Unknown Primary.

Intern Med 2021 Apr 5. Epub 2021 Apr 5.

Department of Diagnostic Radiology, Osaka Medical College, Japan.

A 60-year-old woman presented with multiple lung and bone metastases with unknown primary cancer. Chest CT images showed multiple pulmonary cysts, predominantly of the middle and lower lobes. She also had a history of pneumothorax. Read More

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Quantitative Analysis of Cystic Lung Diseases by Use of Paired Inspiratory and Expiratory CT: Estimation of the Extent of Cyst-Airway Communication and Evaluation of Diagnostic Utility.

Radiol Cardiothorac Imaging 2020 Apr 30;2(2):e190097. Epub 2020 Apr 30.

Departments of Radiology (K. Suzuki, R.K.) and Respiratory Medicine (K. Seyama, H.E.), Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3, Hongo, Bunkyo-ku, Tokyo 113-8431, Japan; Department of Thoracic Surgery, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan (H.E.); and Department of Pathology, Japanese Red Cross Medical Center, Tokyo, Japan (T.K.).

Purpose: To establish a method for quantitatively estimating the extent of the communication between the cyst and the airway in cystic lung diseases (CLDs) and evaluate its diagnostic utility in differentiating among CLDs.

Materials And Methods: Seventy-one patients (mean age, 49.9 years; age range, 25-79 years) with CLDs who underwent paired inspiratory and expiratory CT between July 2015 and July 2018 were enrolled in this prospective study. Read More

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Imaging evaluation of hereditary renal tumors: a pictorial review.

Jpn J Radiol 2021 Mar 23. Epub 2021 Mar 23.

Department of Radiology, Okayama University Hospital, 2-5-1 Shikata-cho, Okayama, 700-8558, Japan.

More than 10 hereditary renal tumor syndromes (HRTSs) and related germline mutations have been reported with HRTS-associated renal and extrarenal manifestations with benign and malignant tumors. Radiologists play an important role in detecting solitary or multiple renal masses with or without extrarenal findings on imaging and may raise the possibility of an inherited predisposition to renal cell carcinoma, providing direction for further screening, intervention and surveillance of the patients and their close family members before the development of potentially lethal renal and extrarenal tumors. Renal cell carcinomas (RCCs) associated with von Hippel-Lindau disease are typically slow growing while RCCs associated with HRTSs, such as hereditary leiomyomatosis and renal cell carcinoma syndrome, are highly aggressive. Read More

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CT findings of pulmonary cysts.

Clin Radiol 2021 Mar 16. Epub 2021 Mar 16.

Department of Pulmonology, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Santiago de Compostela, Spain.

Pulmonary cysts are thin-walled radiolucent lesions that may appear in a variety of uncommon disorders known as diffuse cystic lung diseases (DCLD) that essentially includes lymphangioleiomyomatosis (LAM), Langerhans cell histiocytosis (LCH), lymphocytic interstitial pneumonia (LIP), Pneumocystis jiroveci pneumonia (PJP), and Birt-Hogg-Dubé syndrome (BHDS). Moreover, they have been reported in several cases of coronavirus disease 2019 (COVID-19). The purpose of this review is to provide a practical approach for evaluating lung cysts when encountered on CT. Read More

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Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.

Am J Med Genet A 2021 Mar 5. Epub 2021 Mar 5.

Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania, USA.

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[Cancer-associated genodermatoses].

Hautarzt 2021 Apr 4;72(4):288-294. Epub 2021 Mar 4.

Klinik für Dermatologie und Allergologie, LMU Klinikum, Frauenlobstr. 9-11, 80337, München, Deutschland.

Hereditary tumor syndromes are characterized by a familial occurrence of tumors/cancer. A hereditary tumor syndrome should be suspected if a familial occurrence of cancer is seen and/or persons at younger age are affected. Some of the currently known tumor syndromes are associated with specific skin symptoms that can aid the physician in establishing the correct diagnosis. Read More

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FLCN regulates transferrin receptor 1 transport and iron homeostasis.

J Biol Chem 2021 Feb 17:100426. Epub 2021 Feb 17.

College of Veterinary Medicine, Northwest A&F University, Yangling, Shanxi, China, 712100. Electronic address:

Birt-Hogg-Dubé (BHD) syndrome is a multiorgan disorder caused by inactivation of the folliculin (FLCN) protein. Previously, we identified FLCN as a binding protein of Rab11A, a key regulator of the endocytic recycling pathway. This finding implies that the abnormal localization of specific proteins whose transport requires the FLCN-Rab11A complex may contribute to BHD. Read More

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February 2021

Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene.

Stem Cell Res 2021 Mar 29;51:102215. Epub 2021 Jan 29.

Convergent Research Consortium for Immunologic Disease, Seoul St. Mary's Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Transplant Research Center, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea; Division of Nephrology, Department of Internal Medicine, Seoul St. Mary's Hospital, The College of Medicine, The Catholic University of Korea, 222 Banpo-daero Seocho-gu, Seoul 06591, Republic of Korea. Electronic address:

The human-induced pluripotent stem cell lines (hiPSCs) (CMCi009), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman who were diagnosed as Birt-Hogg-Dubé syndrome (BHD) caused by the frameshift deletion mutation c.1285delC in FCLN gene, was generated using synthetic mRNA. Generated hiPSCs showed a typical human embryonic stem cell like morphology and expressed all pluripotency-associated markers, and directly differentiated into all three germ layers. Read More

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A case report of recurrent pneumothoraces as a presentation of Birt Hogg Dube syndrome.

Respir Med Case Rep 2021 16;32:101340. Epub 2021 Jan 16.

Pulmonary Critical Care Medicine, Guthrie Cortland Regional Medical Center, 134 Homer Ave, Cortland, NY, 13045, USA.

Birt Hogg Dube (BHD) syndrome, also called as Hornstein Knickenburg syndrome is a rare syndrome caused by germline mutation in the folliculin (FLCN) gene and transmitted via autosomal dominant pattern. Different phenotypes with different manifestations have been reported including, skin manifestations as fibrofolliculoma, lung manifestations as pulmonary cysts and spontaneous pneumothorax, renal manifestations as renal neoplasia and rarely colon polyps and colon cancer. We presented a case of 35-year-old female with Birt-Hogg-Dube Syndrome. Read More

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January 2021

Metastatic follicular thyroid cancer in a patient with Birt-Hogg-Dubé syndrome.

Clin Case Rep 2021 Jan 6;9(1):102-104. Epub 2020 Nov 6.

Launceston General Hospital Launceston Tas Australia.

Birt-Hogg-Dubé syndrome (BHDS) is an extremely rare genetic condition that predisposes to renal cell carcinoma. This case describes a novel case of a patient with BHDS who also develops follicular thyroid cancer. Read More

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January 2021

Concurrent Birt-Hogg-Dubé Syndrome and Hereditary Paraganglioma-Pheochromocytoma Syndrome Presenting as Metastatic Renal Cell Carcinoma in a 25-Year-Old Man: A Case Report.

Perm J 2020 11;24:1-6

Drexel University College of Medicine, Philadelphia, PA.

Introduction: Birt-Hogg-Dubé syndrome and hereditary paraganglioma-pheochromocytoma syndrome are rare genetic cancer syndromes that predispose patients to renal neoplasia. We report a case of a 25-year-old man with both Birt-Hogg-Dubé syndrome and hereditary paraganglioma-pheochromocytoma syndrome who presented with painless gross hematuria and was found to have metastatic clear cell renal carcinoma.

Case Presentation: A previously healthy, 25-year-old man presented to his outpatient primary care physician with painless gross hematuria. Read More

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November 2020

Birt-Hogg-Dubé syndrome - an unique case series.

Adv Respir Med 2021 20;89(1):55-59. Epub 2021 Jan 20.

Department of Pulmonary Medicine, TN Medical College and BYL Nair Hospital, Mumbai, India.

Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant syndrome. It is also known as Hornstein-Knickenberg syndrome. It is an inherited disorder culminating in mutations in folliculin coding gene (FLCN). Read More

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January 2021

Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells.

Elife 2021 Jan 18;10. Epub 2021 Jan 18.

Amsterdam UMC, location VUmc, Vrije Universiteit Amsterdam, Clinical Genetics, Cancer Center Amsterdam, Amsterdam, Netherlands.

Germline mutations in the Folliculin () tumor suppressor gene cause Birt-Hogg-Dubé (BHD) syndrome, a rare autosomal dominant disorder predisposing carriers to kidney tumors. is a conserved, essential gene linked to diverse cellular processes but the mechanism by which prevents kidney cancer remains unknown. Here, we show that disrupting in human renal tubular epithelial cells (RPTEC/TERT1) activates TFE3, upregulating expression of its E-box targets, including RRAGD and GPNMB, without modifying mTORC1 activity. Read More

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January 2021

Challenging Cases of Renal Cell Cancers With or Without Tumor Thrombus During the Covid-19 Pandemic.

Anticancer Res 2021 Jan;41(1):335-340

Department of Surgery, University of Miami Miller School of Medicine, Miami, FL, U.S.A.

Background/aim: Large or bilateral multiple renal cell carcinoma (RCC) without/with tumor thrombus (TT) in the renal vein (RV) or inferior vena cava (IVC) poses a challenge to the surgeon due to the potential for massive hemorrhage, tumor thromboemboli and dialysis, and the situation is more critical due to Covid-19 pandemic. We report our experience and measures in dealing with challenging cases of large or multiple RCCs without/with TT during the ongoing Covid-19 pandemic.

Patients And Methods: Between 4/2020-10/2020, five patients underwent RCC resection with/without TT. Read More

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January 2021

Birt-Hogg-Dubé Syndrome Incidentally Identified in a Potential Liver Donor.

Curr Med Imaging 2020 Dec 16. Epub 2020 Dec 16.

Department of General Surgery, Eskişehir Osmangazi University, Faculty of Medicine, Eskişehir. Turkey.

Background: Birt-Hogg-Dubé Syndrome (BHDS), an autosomal dominant hereditary condition, occurs due to mutations in the gene encoding folliculin (FLCN) in the short arm of the 17th chromosome characterized by lung cysts with specific skin findings and renal cell carcinoma. Patients are usually present with complaints of dyspnea and chest pain due to pneumothorax, but also may be asymptomatic due to wide phenotypic heterogeneity. Herein, we report the imaging findings of a case 32-year-old male with BHDS without any symptom who diagnosed incidentally by computed tomography (CT) because of being organ donation. Read More

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December 2020

The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.

Ann Transl Med 2020 Nov;8(21):1436

Department of Respiratory and Critical Care Medicine, The Second Xiangya Hospital of Central-South University, Changsha, China.

Background: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant disease that has been characterized by skin lesions, multiple pulmonary cysts, spontaneous pneumothorax, and renal tumors, but the patients in Asian countries may show fewer symptoms. We aimed to explore and summarize the clinical features of BHD patients in East Asia to facilitate early diagnosis and timely interventions.

Methods: We collected and analyzed the clinical data of patients diagnosed with BHD in our hospital by reviewing medical records. Read More

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November 2020

Masquerading case of a lumpy bumpy face.

JAAD Case Rep 2020 Dec 16;6(12):1261-1263. Epub 2020 Oct 16.

HCA Healthcare/USF Morsani College of Medicine GME: Largo Medical Center, Largo, Florida.

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December 2020

Identification of a Novel Pathogenic Folliculin Variant in a Chinese Family With Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome).

Front Genet 2020 2;11:565566. Epub 2020 Nov 2.

Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, China.

Birt-Hogg-Dubé syndrome (BHDS), which is also called Hornstein-Knickenberg syndrome (HKS), is a hereditary autosomal dominant disorder caused by germline mutations in the folliculin gene (, NM_144997). More pulmonary manifestations (pulmonary cysts and recurrent pneumothoraxes) but fewer skin fibrofolliculomas and renal malignancy are found in Asian BHDS patients compared with other BHDS patients. The atypical manifestation can easily lead to a missed or delayed diagnosis. Read More

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November 2020

Pediatric Cystic Lung Lesions: Where Are We Now?

Surg Pathol Clin 2020 Dec 9;13(4):643-655. Epub 2020 Oct 9.

Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA; Department of Laboratories, Seattle Children's Hospital, OC.8.720, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA. Electronic address:

Pediatric cystic lung lesions have long been a source of confusion for clinicians, radiologists, and pathologists. They encompass a wide spectrum of entities with variable prognostic implications, including congenital lung malformations, pulmonary neoplasms, and hereditary conditions. As our understanding of the developmental and genetic origins of these conditions has evolved, revised nomenclature and classifications have emerged in an attempt to bring clarity to the origin of these lesions and guide clinical management. Read More

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December 2020

Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.

PLoS Genet 2020 11 2;16(11):e1009187. Epub 2020 Nov 2.

The Linderstrøm-Lang Centre for Protein Science, Department of Biology, University of Copenhagen, Copenhagen, Denmark.

Germline mutations in the folliculin (FLCN) tumor suppressor gene are linked to Birt-Hogg-Dubé (BHD) syndrome, a dominantly inherited genetic disease characterized by predisposition to fibrofolliculomas, lung cysts, and renal cancer. Most BHD-linked FLCN variants include large deletions and splice site aberrations predicted to cause loss of function. The mechanisms by which missense variants and short in-frame deletions in FLCN trigger disease are unknown. Read More

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November 2020

Alveolar proteinosis of genetic origins.

Eur Respir Rev 2020 Dec 28;29(158). Epub 2020 Oct 28.

AP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France.

Pulmonary alveolar proteinosis (PAP) is a rare form of chronic interstitial lung disease, characterised by the intra-alveolar accumulation of lipoproteinaceous material. Numerous conditions can lead to its development. Whereas the autoimmune type is the main cause in adults, genetic defects account for a large part of cases in infants and children. Read More

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December 2020

Pulmonary Involvement in Birt-Hogg-Dubé Syndrome.

Chest 2020 Oct;158(4):1791-1793

Department of Thoracic Surgery, China-Japan Friendship Hospital, Beijing, China. Electronic address:

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October 2020

Phenotypic Variation of Birt-Hogg-Dubé Syndrome Within a Single Family.

Chest 2020 Oct;158(4):1790-1791

Department of Respiratory Medicine, St. Vincent's University Hospital, Dublin, Ireland; School of Medicine, University College Dublin, Dublin, Ireland. Electronic address:

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October 2020