Birt-Hogg-Dube Syndrome

Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).

Also Known As:

Networked: 69 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Lymphangioleiomyomatosis (Lymphangiomyomatosis)
2.	Neoplasms (Cancer)
3.	Tuberous Sclerosis (Bourneville's Disease)
4.	Langerhans-Cell Histiocytosis (Histiocytosis, Langerhans Cell)
5.	von Hippel-Lindau Disease (von Hippel Lindau Disease)

Experts

1.	Seyama, Kuniaki: 6 articles (04/2020 - 06/2012)
2.	Schmidt, Laura S: 6 articles (12/2019 - 10/2006)
3.	Baba, Masaya: 5 articles (12/2019 - 10/2006)
4.	Linehan, W Marston: 5 articles (01/2012 - 10/2006)
5.	Furuya, Mitsuko: 4 articles (03/2016 - 10/2013)
6.	Yao, Masahiro: 4 articles (03/2016 - 01/2008)
7.	Hong, Seung-Beom: 4 articles (03/2015 - 10/2006)
8.	Ebana, Hiroki: 2 articles (04/2020 - 01/2018)
9.	Kobayashi, Etsuko: 2 articles (04/2020 - 01/2018)
10.	Kumasaka, Toshio: 2 articles (04/2020 - 01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Birt-Hogg-Dube Syndrome:

1.	lipoarabinomannan (LAM)IBA 04/01/2020 - "Participants were divided into three groups based on their diagnosis: Birt-Hogg-Dubé syndrome (BHDS) group (15 participants), lymphangioleiomyomatosis (LAM) group (43 participants), and other diseases (OT) group (13 participants). " 01/01/2017 - "The aim of this study was to apply the CT image-based method of characterizing the size distribution of LAA clusters for lymphangioleiomyomatosis (LAM) and Birt-Hogg-Dubé syndrome (BHDS) to disclose their features of the progression of pulmonary cysts. " 01/01/2017 - "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). " 06/01/2018 - "Spontaneous pneumothorax (SP) is a common manifestation of patients with diffuse cystic lung diseases (DCLDs) such as lymphangieoleiomyomatosis (LAM), pulmonary Langerhans cell histiocytosis (PLCH) and Birt-Hogg-Dubé syndrome (BHD). " 01/01/2017 - "However, occult diffuse cystic lung diseases such as Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell histiocytosis (PLCH) can also first present with a spontaneous pneumothorax, and their early identification by high-resolution computed tomographic (HRCT) chest imaging has implications for subsequent management. "
2.	Proteins (Proteins, Gene)FDA Link 09/30/2020 - "Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin. " 04/01/2020 - "A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic." 08/01/2003 - "Studies of families with Birt-Hogg-Dubé syndrome (BHD) have recently revealed protein-truncating mutations in the BHD gene, leading to tumorigenesis of the skin and of different cell types of kidney. " 11/01/2015 - "The FLCN gene that codes for the protein folliculin, mutated in Birt-Hogg-Dubé syndrome, presents a new target for mouse modeling of kidney cancer. " 03/01/2013 - "Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by the presence of three skin tumors (fibrofolliculomas, trichodiscomas, and acrochordons), together with an increased risk for other tumors, especially renal tumors, caused by a mutation in folliculin, an oncogene suppressor protein. "
3.	trans-sodium crocetinate (crocetin)IBA 10/01/2013 - "Multiple and/or bilateral chromophobe RCCs in an individual are generally rare but frequently occur in patients with Birt-Hogg-Dubé syndrome (BHDS) and in patients with tuberous sclerosis complex (TSC). " 05/01/2007 - "The multiple oral papules in TSC may appear similar to those observed in Cowden syndrome, Birt-Hogg-Dubé syndrome, and rarely in multiple endocrine neoplasia type 1." 07/01/2016 - "Recommendations for newly diagnosed patients' assessment and optimal ages to initiate followup protocols for von Hippel Lindau disease (VHL), hereditary papillary renal cancer (HPRC), hereditary leiomyomatosis with renal cell carcinoma (HLRCC), Birt-Hogg-Dubé syndrome (BHD), familial paraganglioma-pheochromocytoma syndromes (PGL-PCC), and tuberous sclerosis (TSC) are proposed. " 07/22/2019 - "The present study is a retrospective clinical and morphologic review of 60 hereditary renal tumors from 30 HRCCS patients treated at our institution with either Von Hippel-Lindau disease (VHL), Birt-Hogg-Dubé syndrome (BHD), tuberous sclerosis complex (TSC), hereditary leiomyomatosis and renal cell cancer syndrome, or succinate dehydrogenase (SDH) deficiency syndrome. " 09/01/2010 - "Diagnostic test performance was determined from a cohort of 195 women, with tuberous sclerosis complex (TSC), TSC-LAM, sporadic LAM (S-LAM), and other cystic lung diseases in the differential diagnosis, including biopsy-proven or genetically proven pulmonary Langerhans cell histiocytosis, emphysema, Sjögren syndrome, or Birt-Hogg-Dubé syndrome. "
4.	Succinate Dehydrogenase (Fumarate Reductase)IBA 05/01/2018 - "This review provides a comprehensive review of the known sub-types of renal cell carcinoma that have a predilection to occur in the setting of hereditary disease; examples include renal cancers occurring in the background of von Hippel Lindau disease, hereditary leiomyomatosis and renal cell carcinoma syndrome, tuberous sclerosis, Birt Hogg Dube syndrome and succinate dehydrogenase deficiency. " 07/01/2013 - "In this review, we detail the histologic features of syndromic-associated renal neoplasms, describe the presence of characteristic changes in the background renal parenchyma, and provide an update on associated extrarenal manifestations for each of the following syndromes: von Hippel-Lindau disease, hereditary papillary renal cell carcinoma (RCC), hereditary leiomyomatosis-RCC, Birt-Hogg-Dubé syndrome, tuberous sclerosis complex, germline succinate dehydrogenase mutation, hereditary nonpolyposis colorectal cancer syndrome, hyperparathyroidism-jaw tumor syndrome, PTEN hamartoma syndrome, constitutional chromosome 3 translocation, and familial nonsyndromic clear cell RCC. " 07/22/2019 - "The present study is a retrospective clinical and morphologic review of 60 hereditary renal tumors from 30 HRCCS patients treated at our institution with either Von Hippel-Lindau disease (VHL), Birt-Hogg-Dubé syndrome (BHD), tuberous sclerosis complex (TSC), hereditary leiomyomatosis and renal cell cancer syndrome, or succinate dehydrogenase (SDH) deficiency syndrome. " 11/15/2022 - "This review will focus on the major forms of hereditary renal cell carcinoma and the genetic alterations contributing to their tumorigenesis, including von Hippel Lindau syndrome, Hereditary Papillary Renal Cell Carcinoma, Succinate Dehydrogenase-Deficient Renal Cell Carcinoma, Hereditary Leiomyomatosis and Renal Cell Carcinoma, BRCA Associated Protein 1 Tumor Predisposition Syndrome, Tuberous Sclerosis, Birt-Hogg-Dubé Syndrome and Translocation RCC. " 11/01/2022 - "A subset of renal tumors (5-8%) are associated with syndromes such as von Hippel-Lindau (VHL) syndrome, Birt-Hogg-Dubé syndrome (BHD), tuberous sclerosis complex (TSC), hereditary papillary renal carcinoma (HPRC), hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC), and BRCA1 associated protein (BAP1) tumor predisposition syndrome, succinate dehydrogenase RCC (SDHB/C/D). "
5.	Sirolimus (Rapamycin)FDA Link 01/01/2014 - "Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial." 12/01/2019 - "Laser-Assisted Delivery of Topical Rapamycin: mTOR Inhibition for Birt-Hogg-Dube Syndrome." 01/16/2008 - "The conditional BHD knockout mouse may be a useful research model for dissecting multistep kidney carcinogenesis, and rapamycin may be considered as a potential treatment for Birt-Hogg-Dubé syndrome."
6.	AMP-Activated Protein KinasesIBA 01/04/2010 - "Recently, it was reported that the product of Birt-Hogg-Dubé syndrome gene (folliculin, FLCN) is directly phosphorylated by 5'-AMP-activated protein kinase (AMPK). " 12/01/2019 - "Folliculin interacting protein 1 (Fnip1) is a cytoplasmic protein originally discovered through its interaction with the master metabolic sensor 5' AMP-activated protein kinase (AMPK) and Folliculin, a protein mutated in individuals with Birt-Hogg-Dubé Syndrome. " 05/31/2008 - "Birt-Hogg-Dube' syndrome characterized by increased risk for renal neoplasia is caused by germline mutations in the BHD/FLCN gene encoding a novel tumor suppressor protein, folliculin(FLCN), which interacts with FNIP1 and 5'-AMP-activated protein kinase(AMPK). "
7.	Indicators and Reagents (Reagents)IBA 01/01/2014 - "Bilateral renal tumour as indicator for birt-hogg-dubé syndrome." 07/03/2014 - "Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients." 02/01/2014 - "Lung cysts as indicator for Birt-Hogg-Dubé syndrome."
8.	Tumor Suppressor Proteins (Proteins, Tumor Suppressor)IBA 10/17/2006 - "Birt-Hogg-Dubé syndrome, a hamartoma disorder characterized by benign tumors of the hair follicle, lung cysts, and renal neoplasia, is caused by germ-line mutations in the BHD(FLCN) gene, which encodes a tumor-suppressor protein, folliculin (FLCN), with unknown function. " 05/31/2008 - "Birt-Hogg-Dube' syndrome characterized by increased risk for renal neoplasia is caused by germline mutations in the BHD/FLCN gene encoding a novel tumor suppressor protein, folliculin(FLCN), which interacts with FNIP1 and 5'-AMP-activated protein kinase(AMPK). "
9.	DNA (Deoxyribonucleic Acid)IBA 05/01/2014 - "We finally diagnosed Birt-Hogg-Dube syndrome after deoxyribonucleic asid(DNA)sequencing of folliculin( FLCN) gene. " 01/01/2023 - "Birt-Hogg-Dubé syndrome and vascular Ehlers-Danlos syndrome were diagnosed through DNA-testing. "
10.	MTOR InhibitorsIBA 01/01/2012 - "Additionally, the preclinical rationale for the use of mTOR inhibitors in this population based on our characterization of the hereditary form of chromophobe kidney cancer, Birt-Hogg-Dube syndrome, is discussed." 11/09/2023 - "MTOR inhibitors are used in LAM and in TSC while Birt-Hogg-Dubé syndrome does not progress towards chronic respiratory failure. "

Therapies and Procedures

1.	Gas Lasers 01/01/2001 - "[Multiple mantleomas in Birt-Hogg-Dubé syndrome: successful therapy with CO2 laser]." 10/01/2023 - "Fibrofolliculomas in Birt-Hogg-Dubé syndrome treated with nonfractionated ablative CO2 laser." 01/01/2001 - "A father and his daughter with Birt-Hogg-Dubé-syndrome were treated with the CO2 laser, producing satisfactory results." 11/01/2020 - "Treatment of Benign Adnexal Tumors in Birt-Hogg-Dubé Syndrome With Surgical Debulking in Combination With Fractional and Fully Ablative Carbon Dioxide Laser Resurfacing." 03/01/2016 - "[CO2 laser treatment of fibrofolliculomas and cutaneous tumors in Birt-Hogg-Dubé syndrome]."
2.	Kidney Transplantation 10/16/2018 - "Renal transplantation in Birt-Hogg-Dubé syndrome: should we?" 07/01/2023 - "Development of Bilateral Renal Cell Carcinoma in the Birt-Hogg-Dubé Syndrome Before and After Living-Related Kidney Transplantation." 04/01/2016 - "We present the case of a 64-year-old patient with a history of Birt-Hogg-Dube syndrome, polycystic kidney disease treated with renal transplantation in May 2013, and multiple types of skin cancers, including malignant melanoma. "
3.	Therapeutics 09/01/2013 - "Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies." 03/01/2010 - "[Intra- and interfamilial phenotype variation in Birt-Hogg-Dubé syndrome: Consequences for therapy]." 03/01/2016 - "Birt-Hogg-Dubé syndrome is a hereditary hamartoma syndrome, which is triggered by metabolic alterations under a functional loss of FLCN/FNIP1/FNIP2 complex, a critical regulator of kidney cell proliferation rate; a mechanistic insight into the FLCN/FNIP1/FNIP2 pathway could provide us a basis for developing new therapeutics for kidney cancer. "
4.	Lasers (Laser) 10/01/2011 - "Multiple Facial Papules of Birt-Hogg-Dubé Syndrome Treated with a CO(2) Laser." 01/01/2001 - "Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing." 12/01/2019 - "Laser-Assisted Delivery of Topical Rapamycin: mTOR Inhibition for Birt-Hogg-Dube Syndrome."
5.	Solid-State Lasers 11/01/2000 - "Treatment of Birt-Hogg-Dubé syndrome with erbium:YAG laser."