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Desquamative interstitial pneumonia: A case report.
Zhang H, Yu G, Yang B, Ma S, Wang Y, Zhang X, Zhang Y, Qu MH. Zhang H, et al. Exp Ther Med. 2024 Mar 13;27(5):199. doi: 10.3892/etm.2024.12487. eCollection 2024 May. Exp Ther Med. 2024. PMID: 38544554 Free PMC article.
The most common DCLDs encountered in the clinic include lymphangioleiomyomatosis, Birt-Hogg-Dube syndrome, Langerhans cell histiocytosis and lymphocytic interstitial pneumonia. ...
The most common DCLDs encountered in the clinic include lymphangioleiomyomatosis, Birt-Hogg-Dube syndrome, Lange …
A case report of Birt-Hogg-Dube syndrome associated with severe airway obstruction in a 62-year-old female smoker.
Uemasu K, Nyunoya T. Uemasu K, et al. Respirol Case Rep. 2024 Mar 23;12(3):e01327. doi: 10.1002/rcr2.1327. eCollection 2024 Mar. Respirol Case Rep. 2024. PMID: 38523622 Free PMC article.
Birt-Hogg-Dube syndrome (BHD) typically does not manifest airway obstruction despite the presence of multiple lung cysts. ...We report a case of a smoking individual diagnosed with BHD syndrome complicated by spontaneous pneumothorax and severe
Birt-Hogg-Dube syndrome (BHD) typically does not manifest airway obstruction despite the presence of multiple lu
The Prevalence and Radiologic Features of Renal Cancers Associated with FLCN, BAP1, SDH, and MET Germline Mutations.
Charbel C, Causa Andrieu PI, Soliman M, Woo S, Zheng J, Capanu M, Nikolovski I, Vargas HA, Abusamra M, Carlo MI. Charbel C, et al. Radiol Imaging Cancer. 2024 Mar;6(2):e230063. doi: 10.1148/rycan.230063. Radiol Imaging Cancer. 2024. PMID: 38456787
Within the study sample size limits, imaging findings for hereditary RCC overlapped with those of nonhereditary RCC, and the prevalence of other associated benign solid renal lesions (other than complex cysts) was up to 11%. Keywords: Familial Renal Cell Carcinoma, Birt- …
Within the study sample size limits, imaging findings for hereditary RCC overlapped with those of nonhereditary RCC, and the prevalence of o …
Familial pulmonary cysts: A clue to diagnose Birt-Hogg-Dube syndrome: A case report and literature review.
Miao J, Gao Q, Wang Z, Hou G. Miao J, et al. Respirol Case Rep. 2024 Mar 7;12(3):e01319. doi: 10.1002/rcr2.1319. eCollection 2024 Mar. Respirol Case Rep. 2024. PMID: 38455502 Free PMC article.
Birt-Hogg-Dube syndrome (BHD) is an inherited autosomal dominant condition caused by germline mutations in the FLCN gene, mapped to chromosome 17p11.2. ...
Birt-Hogg-Dube syndrome (BHD) is an inherited autosomal dominant condition caused by germline mutations in the F
Hereditary Renal Cancer Syndromes.
Yanus GA, Kuligina ES, Imyanitov EN. Yanus GA, et al. Med Sci (Basel). 2024 Feb 18;12(1):12. doi: 10.3390/medsci12010012. Med Sci (Basel). 2024. PMID: 38390862 Free PMC article. Review.
These syndromes almost always have extrarenal manifestations, for example, von Hippel-Lindau (VHL) disease, fumarate hydratase tumor predisposition syndrome (FHTPS), Birt-Hogg-Dube (BHD) syndrome, tuberous sclerosis (TS), etc. In contrast to the …
These syndromes almost always have extrarenal manifestations, for example, von Hippel-Lindau (VHL) disease, fumarate hydratase tumor predisp …
Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report.
Dwikat MF, Azar J, Rabayah R, Salameh R, Abdeljaleel F, Almadhoun W, Ayyad A, Ibraik F, Safarini O. Dwikat MF, et al. Ann Med Surg (Lond). 2024 Jan 3;86(2):1055-1060. doi: 10.1097/MS9.0000000000001496. eCollection 2024 Feb. Ann Med Surg (Lond). 2024. PMID: 38333273 Free PMC article.
INTRODUCTION AND IMPORTANCE: Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the folliculin (FLCN) gene. ...His history, physical exam, imaging, and histopathology suggested BHD syndrome despite having a negative family …
INTRODUCTION AND IMPORTANCE: Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the follic …
Immunomodulatory therapy in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS, MIS-C; RECOVERY): a randomised, controlled, open-label, platform trial.
RECOVERY Collaborative Group. RECOVERY Collaborative Group. Lancet Child Adolesc Health. 2024 Mar;8(3):190-200. doi: 10.1016/S2352-4642(23)00316-4. Epub 2024 Jan 22. Lancet Child Adolesc Health. 2024. PMID: 38272046 Free article. Clinical Trial.
BACKGROUND: Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 (PIMS-TS), also known as multisystem inflammatory syndrome in children (MIS-C) emerged in April, 2020. ...
BACKGROUND: Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 (PIMS-TS), also known as multisystem i …
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Bottillo I, Laino L, Azzarà A, Lintas C, Cassano I, Di Lazzaro V, Ursini F, Motolese F, Bargiacchi S, Formicola D, Grammatico P, Gurrieri F. Bottillo I, et al. Front Neurosci. 2024 Jan 5;17:1304080. doi: 10.3389/fnins.2023.1304080. eCollection 2023. Front Neurosci. 2024. PMID: 38249578 Free PMC article.
INTRODUCTION: Folliculin, encoded by FLCN gene, plays a role in the mTORC1 autophagy cascade and its alterations are responsible for the Birt-Hogg-Dube (BHD) syndrome, characterized by follicle hamartomas, kidney tumors and pneumothorax. ...
INTRODUCTION: Folliculin, encoded by FLCN gene, plays a role in the mTORC1 autophagy cascade and its alterations are responsible for the …
Birt-Hogg-Dube syndrome in an overall view: Focus on the clinicopathological prospects in renal tumors.
Wu J, Lu J, Wu CL, Lu M. Wu J, et al. Semin Diagn Pathol. 2024 Jan 6:S0740-2570(24)00008-X. doi: 10.1053/j.semdp.2024.01.008. Online ahead of print. Semin Diagn Pathol. 2024. PMID: 38242750 Review.
Birt-Hogg-Dube syndrome (BHD) represents a rare autosomal dominant tumor predisposition syndrome characterized by skin lesions, lung cysts, and renal tumors. ...
Birt-Hogg-Dube syndrome (BHD) represents a rare autosomal dominant tumor predisposition syndrome characte
Diagnosis of cystic lung diseases: a position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network.
Johnson SR, Shaw DE, Avoseh M, Soomro I, Pointon KS, Kokosi M, Nicholson AG, Desai SR, George PM. Johnson SR, et al. Thorax. 2024 Mar 15;79(4):366-377. doi: 10.1136/thorax-2022-219738. Thorax. 2024. PMID: 38182428 Review.
As some of these diseases now have specific treatments, making a precise diagnosis is crucial. While Langerhans cell histiocytosis, Birt-Hogg-Dube syndrome, lymphoid interstitial pneumonia and lymphangioleiomyomatosis are becoming relatively well-known …
As some of these diseases now have specific treatments, making a precise diagnosis is crucial. While Langerhans cell histiocytosis, Birt
Risk of pneumothorax in Birt-Hogg-Dube syndrome during pregnancy and birth.
Steinlein OK, Reithmair M, Syunyaeva Z, Sattler EC. Steinlein OK, et al. Front Med (Lausanne). 2023 Nov 8;10:1289948. doi: 10.3389/fmed.2023.1289948. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38020174 Free PMC article.
Birt-Hogg-Dube syndrome (BHDS) is a genetic disorder characterized by fibrofolliculomas, renal cell cancer and lung cysts. ...
Birt-Hogg-Dube syndrome (BHDS) is a genetic disorder characterized by fibrofolliculomas, renal cell cancer and l
Kidney cancer: Links between hereditary syndromes and sporadic tumorigenesis.
Alchoueiry M, Cornejo K, Henske EP. Alchoueiry M, et al. Semin Diagn Pathol. 2024 Jan;41(1):1-7. doi: 10.1053/j.semdp.2023.11.002. Epub 2023 Nov 17. Semin Diagn Pathol. 2024. PMID: 38008653 Review.
Multiple hereditary syndromes predispose to kidney cancer, including Von Hippel-Lindau syndrome, BAP1-Tumor Predisposition Syndrome, Hereditary Papillary Renal Cell Carcinoma, Tuberous Sclerosis Complex, Birt-Hogg-Dube syndrome, Hereditar …
Multiple hereditary syndromes predispose to kidney cancer, including Von Hippel-Lindau syndrome, BAP1-Tumor Predisposition Syndrom
Hybrid Oncocytic Tumors (HOTs) in Birt-Hogg-Dube Syndrome Patients-A Tale of Two Cities: Sequencing Analysis Reveals Dual Lineage Markers Capturing the 2 Cellular Populations of HOT.
Wang XM, Mannan R, Zhang Y, Chinnaiyan A, Rangaswamy R, Chugh S, Su F, Cao X, Wang R, Skala SL, Hafez KS, Vaishampayan U, Mckenney J, Picken MM, Gupta S, Alaghehbandan R, Tretiakova M, Argani P, Chinnaiyan AM, Dhanasekaran SM, Mehra R. Wang XM, et al. Am J Surg Pathol. 2024 Feb 1;48(2):163-173. doi: 10.1097/PAS.0000000000002152. Epub 2023 Nov 24. Am J Surg Pathol. 2024. PMID: 37994665 Free PMC article.
Birt-Hogg-Dube (BHD) syndrome is associated with an increased risk of multifocal renal tumors, including hybrid oncocytic tumor (HOT) and chromophobe renal cell carcinoma (chRCC). ...
Birt-Hogg-Dube (BHD) syndrome is associated with an increased risk of multifocal renal tumors, including hybrid
Coexistent Sjogren's syndrome and Birt-Hogg-Dube syndrome: a case report.
Lin Y, Guo T, Lei C, Yang B, Yang D, Luo H, Peng H. Lin Y, et al. BMC Pulm Med. 2023 Nov 22;23(1):460. doi: 10.1186/s12890-023-02680-5. BMC Pulm Med. 2023. PMID: 37993820 Free PMC article. Review.
We report a rare case of Sjogren's syndrome complicated with Birt-Hogg-Dube syndrome (BHDS) not previously mentioned in the literature. ...Initial xerophthalmia and labial gland biopsy seemed to reveal a pulmonary cystic change associated with S …
We report a rare case of Sjogren's syndrome complicated with Birt-Hogg-Dube syndrome (BHDS) not previousl …
Recommendations on scuba diving in Birt-Hogg-Dube syndrome.
van Riel L, van Hulst RA, van Hest L, van Moorselaar R, Boerrigter BG, Franken SM, Wolthuis R, Dubbink HJ, Marciniak SJ, Gupta N, van de Beek I, Houweling AC. van Riel L, et al. Expert Rev Respir Med. 2023 Jul-Dec;17(11):1003-1008. doi: 10.1080/17476348.2023.2284375. Epub 2023 Dec 26. Expert Rev Respir Med. 2023. PMID: 37991821 Free PMC article. Review.
Pathology of the lung parenchyma, such as cystic lesions, might increase the risk of pulmonary barotrauma. AREAS COVERED: Birt-Hogg-Dube syndrome (BHD), caused by pathogenic variants in the FLCN gene, is characterized by skin fibrofolliculomas, an incr …
Pathology of the lung parenchyma, such as cystic lesions, might increase the risk of pulmonary barotrauma. AREAS COVERED: Birt-Hog
[Genetic diffuse cystic lung disease in adults].
Diesler R, Ahmad K, Chalabreysse L, Glérant JC, Harzallah I, Touraine R, Si-Mohamed S, Cottin V. Diesler R, et al. Rev Mal Respir. 2024 Jan;41(1):69-88. doi: 10.1016/j.rmr.2023.08.005. Epub 2023 Nov 10. Rev Mal Respir. 2024. PMID: 37951745 Review. French.
Patients with TSC are variably affected by cutaneous, cognitive and neuropsychiatric manifestations, epilepsy, cerebral and renal tumors, usually of benign nature. Birt-Hogg-Dube syndrome is caused by mutations in FLCN encoding folliculin. ...The mamma …
Patients with TSC are variably affected by cutaneous, cognitive and neuropsychiatric manifestations, epilepsy, cerebral and renal tumors, us …
Birt-Hogg-Dube Syndrome (PDQ): Health Professional Version.
PDQ Cancer Genetics Editorial Board. PDQ Cancer Genetics Editorial Board. 2023 Oct 30. In: PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002–. 2023 Oct 30. In: PDQ Cancer Information Summaries [Internet]. Bethesda (MD): National Cancer Institute (US); 2002–. PMID: 33724752 Free Books & Documents. Review.
This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the genetics of Birt-Hogg-Dube syndrome (BHD). It is intended as a resource to inform and assist clinicians who care fo …
This PDQ cancer information summary for health professionals provides comprehensive, peer-reviewed, evidence-based information about the gen …
Birt-Hogg-Dube syndrome in skin of color: Literature review.
Pagan AD, Obi A, McKinley J, Oladunjoye E, Kasago I, Gulati N, Phelps RG, Svidzinski C. Pagan AD, et al. J Am Acad Dermatol. 2024 Feb;90(2):412-414. doi: 10.1016/j.jaad.2023.09.081. Epub 2023 Oct 13. J Am Acad Dermatol. 2024. PMID: 37838258 Review. No abstract available.
Pulmonary interstitial glycogenosis in Birt-Hogg-Dube syndrome-associated lung cysts: A new insight into the pathogenesis?
Kawachi R, Nakatani Y, Furuya M, Nakamura N, Kondo Y, Nagashima Y, Nakayama T, Okada M, Sakurai H, Masuda S. Kawachi R, et al. Pathol Int. 2023 Dec;73(12):601-608. doi: 10.1111/pin.13383. Epub 2023 Oct 11. Pathol Int. 2023. PMID: 37818800
Multiple lung cysts are one of the major features of Birt-Hogg-Dube syndrome (BHD), but little is known about their nature and pathogenesis. ...
Multiple lung cysts are one of the major features of Birt-Hogg-Dube syndrome (BHD), but little is known about th …
Renal Cell Tumor and Cystic Lung Disease: A Genetic Link for Generalists to Be Aware of.
Koh C, Wong M, Tay SB. Koh C, et al. Cureus. 2023 Aug 16;15(8):e43572. doi: 10.7759/cureus.43572. eCollection 2023 Aug. Cureus. 2023. PMID: 37719632 Free PMC article.
Birt-Hogg-Dube syndrome (BHDS) is a rare autosomal dominant condition characterized by multiple pulmonary cysts, fibrofolliculomas, and renal cell carcinoma. ...
Birt-Hogg-Dube syndrome (BHDS) is a rare autosomal dominant condition characterized by multiple pulmonary cysts,
A Rare Case of Spontaneous Pneumothorax Recurrence 30 Years After Surgery in a Patient with Birt-Hogg-Dube Syndrome: Case Presentation and Short Review of the Literature.
Leivaditis V, Papatriantafyllou A, Koletsis E, Mulita F, Dedopoulou P, Panagiotopoulos I, Verras GI, Anzoulas A, Dahm M. Leivaditis V, et al. Acta Inform Med. 2023 Jun;31(2):146-150. doi: 10.5455/aim.2023.31.146-150. Acta Inform Med. 2023. PMID: 37711493 Free PMC article.
BACKGROUND: Birt-Hogg-Dube syndrome (BHDS), also known as Hornstein-Knickenberg syndrome is a rare, autosomal dominant genetic disorder characterized by a triad of clinical manifestations: skin fibrofolliculomas, renal tumors, and multiple pulmo …
BACKGROUND: Birt-Hogg-Dube syndrome (BHDS), also known as Hornstein-Knickenberg syndrome is a rare, autos …
[Expert consensus on the diagnosis and management of Birt-Hogg-Dube syndrome].
Expert Consensus Group of the Expert Consensus on the Diagnosis and Management of Birt-Hogg-Dubé Syndrome; China Alliance for the Rare Lung Disease; Chinese Thoracic Society, Chinese Medical Association; Southern China Rare Lung Disease Committee of China Primary Health Care Foundation. Expert Consensus Group of the Expert Consensus on the Diagnosis and Management of Birt-Hogg-Dubé Syndrome, et al. Zhonghua Jie He He Hu Xi Za Zhi. 2023 Sep 12;46(9):897-908. doi: 10.3760/cma.j.cn112147-20230705-00362. Zhonghua Jie He He Hu Xi Za Zhi. 2023. PMID: 37670643 Chinese.
Birt-Hogg-Dube syndrome (BHD) is a rare autosomal dominant disorder characterized by diffuse pulmonary cysts often leading to recurrent spontaneous pneumothorax, cutaneous fibrofolliculomas or trichodiscomas, and a variety of renal cell cancers. ...We
Birt-Hogg-Dube syndrome (BHD) is a rare autosomal dominant disorder characterized by diffuse pulmonary cysts oft
What is in a name-Perifollicular fibroma or fibrofolliculoma?
Haneke E, Happle R. Haneke E, et al. J Cutan Pathol. 2024 Feb;51(2):170-175. doi: 10.1111/cup.14522. Epub 2023 Aug 30. J Cutan Pathol. 2024. PMID: 37649357
Here, histopathological arguments are presented to clarify this terminological problem. In 1977, Birt et al. described a large kindred affected with hereditary multiple "fibrofolliculomas," which they thought were "a hitherto unrecognized pilar hamartoma," but they never c …
Here, histopathological arguments are presented to clarify this terminological problem. In 1977, Birt et al. described a large kindre …
A Novel FLCN Variant in a Suspected Birt-Hogg-Dube Syndrome Patient.
Bandini E, Zampiga V, Cangini I, Ravegnani M, Arcangeli V, Rossi T, Mammi I, Schiavi F, Zovato S, Falcini F, Calistri D, Danesi R. Bandini E, et al. Int J Mol Sci. 2023 Aug 4;24(15):12418. doi: 10.3390/ijms241512418. Int J Mol Sci. 2023. PMID: 37569793 Free PMC article.
Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt-Hogg-Dube syndrome (BHDS): an autosomal dominantly inherited disorder whose severity c …
Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders …
PEComa of the Adrenal Gland: A Clinicopathologic Series of 7 Cases.
Wakefield CB, Sadow PM, Hornick JL, Fletcher CDM, Barletta JA, Anderson WJ. Wakefield CB, et al. Am J Surg Pathol. 2023 Nov 1;47(11):1316-1324. doi: 10.1097/PAS.0000000000002097. Epub 2023 Aug 7. Am J Surg Pathol. 2023. PMID: 37545320
The cohort comprised 5 male and 2 female patients with a median age of 63 years (range: 31 to 71 y). One patient had Birt-Hogg-Dube syndrome and another had Lynch syndrome; however, none had a history of tuberous sclerosis complex. ...
The cohort comprised 5 male and 2 female patients with a median age of 63 years (range: 31 to 71 y). One patient had Birt-Hogg
Birt-Hogg-Dube Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas.
Theodorakopoulou E, McCarthy AD, Almpanis Z, Aguilera SB. Theodorakopoulou E, et al. Aesthet Surg J Open Forum. 2023 Jul 12;5:ojad064. doi: 10.1093/asjof/ojad064. eCollection 2023. Aesthet Surg J Open Forum. 2023. PMID: 37520842 Free PMC article.
The authors present a rare case of Birt-Hogg-Dube (BHD) syndrome that presented primarily as an aesthetic case. ...
The authors present a rare case of Birt-Hogg-Dube (BHD) syndrome that presented primarily as an aesthetic case. …
Skin Tags.
Pandey A, Sonthalia S. Pandey A, et al. 2023 Jul 31. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jul 31. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 31613504 Free Books & Documents.
However, at the very outset, it should be noted that acrochordons occur more commonly in individuals suffering from obesity, diabetes, metabolic syndrome (MeTS), and in people with a family history of skin tags. ...Certain genetic disorders may have a predisposition to ski …
However, at the very outset, it should be noted that acrochordons occur more commonly in individuals suffering from obesity, diabetes, metab …
A case report of ectopic salivary gland tissue in the tongue base.
Soh JK, Awan B. Soh JK, et al. Radiol Case Rep. 2023 Jul 22;18(10):3425-3433. doi: 10.1016/j.radcr.2023.07.002. eCollection 2023 Oct. Radiol Case Rep. 2023. PMID: 37502484 Free PMC article.
We present a rare, incidental case of lingual ectopic salivary gland tissue in a 52-year-old male with known Birt-Hogg-Dube syndrome, diagnosed on imaging as tongue mass. Excisional biopsy of the left tongue base lesion was performed and histologic exa …
We present a rare, incidental case of lingual ectopic salivary gland tissue in a 52-year-old male with known Birt-Hogg-Dube
Clinical and genetic features of 334 Asian patients with Birt-Hogg-Dube syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-associated pneumothorax.
Namba Y, Ebana H, Okamoto S, Kobayashi E, Kurihara M, Sekimoto Y, Tsuboshima K, Okura MK, Mitsuishi Y, Takahashi K, Seyama K. Namba Y, et al. PLoS One. 2023 Jul 25;18(7):e0289175. doi: 10.1371/journal.pone.0289175. eCollection 2023. PLoS One. 2023. PMID: 37490463 Free PMC article. Review.
BACKGROUND: The clinical pulmonary manifestations and genetic features of Birt-Hogg-Dube syndrome (BHDS) in Asian patients remained unclear. ...
BACKGROUND: The clinical pulmonary manifestations and genetic features of Birt-Hogg-Dube syndrome (BHDS) in Asia …
Pericardial Cyst in Birt-Hogg-Dube Syndrome: An Unexpected Discovery.
Arora GS, Ghosh S, Singh J. Arora GS, et al. Cureus. 2023 Jul 11;15(7):e41728. doi: 10.7759/cureus.41728. eCollection 2023 Jul. Cureus. 2023. PMID: 37484785 Free PMC article.
Birt-Hogg-Dube syndrome (BHD) is a genetic disorder typically characterized by pulmonary cysts, cutaneous fibrofolliculomas, and renal tumors. ...
Birt-Hogg-Dube syndrome (BHD) is a genetic disorder typically characterized by pulmonary cysts, cutaneous fibrof
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dube syndrome.
Pan HH, Ruan DD, Wu M, Chen T, Lu T, Gan YM, Wang C, Liao LS, Lin XF, Chen X, Zhu YB, Fang ZT, Yu QH, Yang GK, Ye LF, Luo JW. Pan HH, et al. J Med Genet. 2023 Nov 27;60(12):1210-1214. doi: 10.1136/jmg-2023-109328. J Med Genet. 2023. PMID: 37468236
To date, over 200 families with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and over 600 families with Birt-Hogg-Dube (BHD) syndrome have been reported, with low incidence. Here, we describe a patient with suspected rare HLRCC complicate …
To date, over 200 families with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and over 600 families with Birt-Hogg
A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dube syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report.
Xiao H, Chi F, Li S, Wang T, Bai B, Hou J, Ge X. Xiao H, et al. Medicine (Baltimore). 2023 Jul 7;102(27):e34241. doi: 10.1097/MD.0000000000034241. Medicine (Baltimore). 2023. PMID: 37417625 Free PMC article.
RATIONALE: Birt-Hogg-Dube (BHD) syndrome is a rare autosomal recessive genetic disorder caused mainly by mutations in the tumor suppressor FLCN gene. ...LESSONS: Our study highlights the importance of genetic analysis in diagnosis and clinical manageme …
RATIONALE: Birt-Hogg-Dube (BHD) syndrome is a rare autosomal recessive genetic disorder caused mainly by mutatio …
Birt-Hogg-Dube Syndrome.
Crane JS, Rutt V, Oakley AM. Crane JS, et al. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jul 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 28846260 Free Books & Documents.
Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant genodermatosis usually manifesting in the third decade of life with multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibilit
Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant genodermatosis usually manifesting in the third decade o
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.
Park HJ, Choi YJ, Park CH, Kim TH, Lee SS, Moon DH, Lee KA, Lee SE, Park MS, Kim SY, Chang YS, Lee SJ, Jung JY, Lee JH, Lee SH, Kim T, Kim SR, Kim K, Byun MK. Park HJ, et al. Diagnostics (Basel). 2023 Jun 13;13(12):2047. doi: 10.3390/diagnostics13122047. Diagnostics (Basel). 2023. PMID: 37370942 Free PMC article.
Birt-Hogg-Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and renal tumors. ...
Birt-Hogg-Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and
[Pneumothorax as an early indication for a genetic disorder].
van Riel L, van de Beek I, Wolthuis RMF, Boerrigter BG, van Moorselaar RJA, Houweling AC. van Riel L, et al. Ned Tijdschr Geneeskd. 2023 Jun 22;167:D7422. Ned Tijdschr Geneeskd. 2023. PMID: 37345626 Dutch.
Based on family history and physical examination, a suspicion of an underlying hereditary disorder arose. Birt-Hogg-Dube syndrome and vascular Ehlers-Danlos syndrome were diagnosed through DNA-testing. ...In many cases this results in significan …
Based on family history and physical examination, a suspicion of an underlying hereditary disorder arose. Birt-Hogg-Dube
PRDM10 RCC: A Birt-Hogg-Dube-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.
Schmidt LS, Vocke CD, Ricketts CJ, Blake Z, Choo KK, Nielsen D, Gautam R, Crooks DR, Reynolds KL, Krolus JL, Bashyal M, Karim B, Cowen EW, Malayeri AA, Merino MJ, Srinivasan R, Ball MW, Zbar B, Marston Linehan W. Schmidt LS, et al. Urology. 2023 Sep;179:58-70. doi: 10.1016/j.urology.2023.04.035. Epub 2023 Jun 16. Urology. 2023. PMID: 37331486 Free article.
OBJECTIVE: To characterize the clinical manifestations and genetic basis of a familial cancer syndrome in patients with lipomas and Birt-Hogg-Dube-like clinical manifestations including fibrofolliculomas and trichodiscomas and kidney cancer. ...PRDM10 …
OBJECTIVE: To characterize the clinical manifestations and genetic basis of a familial cancer syndrome in patients with lipomas and …
Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.
Happle R. Happle R. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):109-115. doi: 10.1002/ajmg.c.32055. Epub 2023 Jun 8. Am J Med Genet C Semin Med Genet. 2023. PMID: 37288730 Review.
Disseminated cylindromas were absent because they usually appear in adulthood. In Hornstein-Knickenberg syndrome, an affected woman had an 8-year-old son with a nevus comedonicus-like lesion exemplifying a forerunner of the syndrome. ("Birt-Hogg-Dub
Disseminated cylindromas were absent because they usually appear in adulthood. In Hornstein-Knickenberg syndrome, an affected woman h …
Hydropneumothorax as a Presentation of Birt-Hogg-Dube Syndrome.
Dhaliwal A, Le N, Razick DI, Akhtar M, Chima BS. Dhaliwal A, et al. Cureus. 2023 May 2;15(5):e38465. doi: 10.7759/cureus.38465. eCollection 2023 May. Cureus. 2023. PMID: 37273290 Free PMC article.
Birt-Hogg-Dube syndrome (BHDS) is a rare genetic disorder characterized by cutaneous, pulmonary, and renal manifestations. ...
Birt-Hogg-Dube syndrome (BHDS) is a rare genetic disorder characterized by cutaneous, pulmonary, and renal manif
Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI. Carlo MI. Hematol Oncol Clin North Am. 2023 Oct;37(5):841-848. doi: 10.1016/j.hoc.2023.04.013. Epub 2023 May 29. Hematol Oncol Clin North Am. 2023. PMID: 37258351 Review.
Up to 5% of renal cell carcinomas (RCCs) can be associated with a known hereditary RCC syndrome. In addition to the well-characterized RCC syndromes, there are also emerging syndromes associated with increased RCC risk. ...
Up to 5% of renal cell carcinomas (RCCs) can be associated with a known hereditary RCC syndrome. In addition to the well-characterize …
Progression of pulmonary cysts in Birt-Hogg-Dube syndrome: longitudinal thoracic computed tomography study with quantitative assessment.
Cho SM, Chae EJ, Choe J, Lee SM, Song JW, Do KH. Cho SM, et al. BMC Pulm Med. 2023 May 23;23(1):181. doi: 10.1186/s12890-023-02483-8. BMC Pulm Med. 2023. PMID: 37221571 Free PMC article.
BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant disorder characterized by fibrofolliculomas, renal tumors, pulmonary cysts, and recurrent pneumothorax. ...It is unknown whether pulmonary cysts progress with time or influence pulm …
BACKGROUND: Birt-Hogg-Dube (BHD) syndrome is a rare autosomal dominant disorder characterized by fibrofolliculom …
Birt-Hogg-Dube syndrome with c.1579_1580insA variant in a Chinese family: a case report.
Tang S, Wei C, Wang X, Xiao M, Luo F, Chen L. Tang S, et al. Front Med (Lausanne). 2023 May 3;10:1184854. doi: 10.3389/fmed.2023.1184854. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37206475 Free PMC article.
Birt-Hogg-Dube (BHD) syndrome, is a rare genetic disease with heterogeneous manifestations in different populations. ...
Birt-Hogg-Dube (BHD) syndrome, is a rare genetic disease with heterogeneous manifestations in different populati
Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.
Jikuya R, Johnson TA, Maejima K, An J, Ju YS, Lee H, Ha K, Song W, Kim Y, Okawa Y, Sasagawa S, Kanazashi Y, Fujita M, Imoto S, Mitome T, Ohtake S, Noguchi G, Kawaura S, Iribe Y, Aomori K, Tatenuma T, Komeya M, Ito H, Ito Y, Muraoka K, Furuya M, Kato I, Fujii S, Hamanoue H, Tamura T, Baba M, Suda T, Kodama T, Makiyama K, Yao M, Shuch BM, Ricketts CJ, Schmidt LS, Linehan WM, Nakagawa H, Hasumi H. Jikuya R, et al. EBioMedicine. 2023 Jun;92:104596. doi: 10.1016/j.ebiom.2023.104596. Epub 2023 May 12. EBioMedicine. 2023. PMID: 37182269 Free PMC article.
BACKGROUND: Birt-Hogg-Dube (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLCN alteration …
BACKGROUND: Birt-Hogg-Dube (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hyb …
Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dube syndrome.
Wang Y, Cai M, Jiang X, Lv G, Hu D, Zhang G, Liu J, Wei W, Xiao J, Shen B, Ryu JH, Hu X. Wang Y, et al. Orphanet J Rare Dis. 2023 May 12;18(1):115. doi: 10.1186/s13023-023-02710-9. Orphanet J Rare Dis. 2023. PMID: 37170274 Free PMC article.
BACKGROUND: The pathogenic variants responsible for Birt-Hogg-Dube syndrome (BHDS) in folliculin (FLCN) gene mostly consist of point mutations. ...
BACKGROUND: The pathogenic variants responsible for Birt-Hogg-Dube syndrome (BHDS) in folliculin (FLCN) gene mos …
[Not a pneumothorax again! Birt-Hogg-Dube syndrome: a case report].
Elsner LK, Kovács J, Kauke T, Steinlein O, Behr J, Kahnert K. Elsner LK, et al. Pneumologie. 2023 May;77(5):303-307. doi: 10.1055/a-2028-6032. Epub 2023 May 9. Pneumologie. 2023. PMID: 37160111 German.
Case discussion of a 40-year-old male patient with a history of recurrent pneumothoraces due to Birt-Hogg-Dube syndrome. In addition to conservative treatment of a pneumothorax on the left side, a subtotal parietal pleurectomy on the right side was per …
Case discussion of a 40-year-old male patient with a history of recurrent pneumothoraces due to Birt-Hogg-Dube syndr
[Pneumothorax with Birt-Hogg-Dube Syndrome Diagnosed by Family History:Report of a Case].
Kita H, Onda T, Yoshida T. Kita H, et al. Kyobu Geka. 2023 May;76(5):409-411. Kyobu Geka. 2023. PMID: 37150925 Japanese.
Birt-Hogg-Dube (BHD) syndrome is a rare autosomal and predominantly inherited disorder. ...A chest computed tomography (CT) scan before surgery showed multiple bilatetal thin walled pulmonary cysts predominant to the lower mediastinum side of the lung
Birt-Hogg-Dube (BHD) syndrome is a rare autosomal and predominantly inherited disorder. ...A chest computed tomo
Lymphangioleiomyomatosis and Other Cystic Lung Diseases.
Koslow M, Lynch DA, Cool CD, Groshong SD, Downey GP. Koslow M, et al. Immunol Allergy Clin North Am. 2023 May;43(2):359-377. doi: 10.1016/j.iac.2023.01.003. Immunol Allergy Clin North Am. 2023. PMID: 37055093 Free PMC article. Review.
Phaeochromocytoma in a patient with a Birt-Hogg-Dube syndrome phenotype.
Alkundi A, Momoh R. Alkundi A, et al. BMJ Case Rep. 2023 Mar 30;16(3):e252362. doi: 10.1136/bcr-2022-252362. BMJ Case Rep. 2023. PMID: 36997239 Free PMC article.
A case of phaeochromocytoma in a female patient in her 50s with phenotypical expressions for the rare Birt-Hogg-Dube (BHD) syndrome is presented. Whether this is an incidental finding or that there is a composite relationship between these two entities …
A case of phaeochromocytoma in a female patient in her 50s with phenotypical expressions for the rare Birt-Hogg-Dube (B …
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