- Genetic Study in a Case of Birt-Hogg-Dube Syndrome
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Park G, Kim HR, Na CH, Choi KC, Shin BS
- KMID: 2156786
- Ann Dermatol.
- 2011 Oct;23(Suppl 2):S188-S192.
- doi: 10.5021/ad.2011.23.S2.S188
Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominantly inherited disorder characterized by multiple trichodiscomas, fibrofolliculomas, and acrocordons. There is also an increased risk of developing renal neoplasms and lung cysts/spontaneous pneumothorax.... -
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- Multiple Facial Papules of Birt-Hogg-Dube Syndrome Treated with a CO2 Laser
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Truchuelo , Alcantara , Allende I, Almazan-Fernandez FM, Boixeda P, Gonzalez C
- KMID: 2156810
- Ann Dermatol.
- 2011 Oct;23(Suppl 2):S279-S280.
- doi: 10.5021/ad.2011.23.S2.S279
No abstract available. -
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- Birt-Hogg-Dube Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis
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Shin WW, Baek YS, Oh TS, Heo YS, Son SB, Oh CH, Song HJ
- KMID: 2156787
- Ann Dermatol.
- 2011 Oct;23(Suppl 2):S193-S196.
- doi: 10.5021/ad.2011.23.S2.S193
Simple benign tumors can present as part of a syndrome with substantial mortality. Fibrofolliculomas are benign skin tumors most often associated with the Birt-Hogg-Dube syndrome (BHDS). The most life-threatening complication... -
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- Two Cases of Birt-Hogg-Dube Syndrome with Pulmonary Cysts
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Seo M, Lim DH, Song JS, Park CS, Chae EJ, Song JW
- KMID: 2269225
- Korean J Med.
- 2014 Oct;87(4):477-483.
- doi: 10.3904/kjm.2014.87.4.477
Birt-Hogg-Dube (BHD) syndrome is a rare autosomal-dominant disease caused by germline folliculin (FLCN) mutations, characterized by fibrofolliculoma or trichodiscoma, renal tumors, and multiple lung cysts with or without spontaneous pneumothorax.... -
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- Birt-Hogg-Dube syndrome incidentally diagnosed during asthma management
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Kim JH, Park KH, Kim DH, Kim YJ, Park JW, Park HJ, Lee JS, Choi JR, Lee JH
- KMID: 2168496
- Allergy Asthma Respir Dis.
- 2015 May;3(3):232-235.
- doi: 10.4168/aard.2015.3.3.232
Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant hereditary disorder characterized by 3 clinical manifestations, including skin fibrofolliculomas, multiple pulmonary cysts with or without spontaneous pneumothorax, and spontaneous renal tumor. A... -
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- Diagnosis and treatment of cystic lung disease
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Park S, Lee EJ
- KMID: 2371644
- Korean J Intern Med.
- 2017 Mar;32(2):229-238.
- doi: 10.3904/kjim.2016.242
Cystic lung disease (CLD) is a group of lung disorders characterized by the presence of multiple cysts, defined as air-filled lucencies or low-attenuating areas, bordered by a thin wall (usually... -
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- A Case of Birt-Hogg-Dube Syndrome Diagnosed by a Folliculin Gene Mutation
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Yoon SB, Park CK, Kang MK, Lee SJ, Han DH, Ki CS, Kim YK
- KMID: 2263952
- Korean J Med.
- 2011 Jul;81(1):102-106.
Birt-Hogg-Dube (BHD) syndrome is a rare, autosomal-dominant disorder that is caused by germ-line mutations in the folliculin gene. Clinically, BHD syndrome is characterized by cutaneous follicle tumors, pulmonary cysts, spontaneous... -
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- A Case of Solitary Trichodiscoma
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Lee WJ, Kang SM, Chang SE, Lee MW, Choi JH, Moon KC, Koh JK
- KMID: 2248031
- Korean J Dermatol.
- 2008 Nov;46(11):1530-1533.
Trichodiscoma are hamartomas of the dermal portion of the hair disc, and these are found as asymptomatic flesh- colored papules 1~3 mm in diameter, and they are usually located on... -
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- Birt-Hogg-Dubé Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene
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Kim KS, Choi HJ, Jang W, Chae H, Kim M, Moon SW
- KMID: 2398396
- Korean J Thorac Cardiovasc Surg.
- 2017 Oct;50(5):386-390.
- doi: 10.5090/kjtcs.2017.50.5.386
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 FLCN located on chromosome 17p11.2,... -
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- Multiple Cystic Lung Disease
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Koo HK, Yoo CG
- KMID: 2320346
- Tuberc Respir Dis.
- 2013 Mar;74(3):97-103.
A lung cyst is an air-filled lucent structure surrounded by a thin wall. The presence of multiple intrapulmonary cysts is defined as cystic lung disease. Although cystic lung disease is... -
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- Birt-Hogg-Dubé Syndrome Associated with a Renal Tumor
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Oh SJ, Hwang KE, Jeong ET, Kim HR, Choi KH, Ryu DW
- KMID: 2454683
- Korean J Med.
- 2019 Aug;94(4):379-382.
- doi: 10.3904/kjm.2019.94.4.379
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder characterized by the formation of hair follicle tumors, kidney tumors, and pulmonary cysts with recurrent spontaneous pneumothorax. A 44-year-old woman visited... -
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- Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up
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Lee JH, Jeon MJ, Song JS, Chae EJ, Choi JH, Kim GH, Song JW
- KMID: 2457313
- Korean J Intern Med.
- 2019 Jul;34(4):830-840.
- doi: 10.3904/kjim.2018.119
BACKGROUND/AIMS: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that is characterized by skin fibrofolliculomas, pulmonary cysts, and renal tumors. The objective of this study was to describe the... -
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- A Stepwise Diagnostic Approach to Cystic Lung Diseases for Radiologists
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Lee KC, Kang EY, Yong HS, Kim C, Lee KY, Hwang SH, Oh YW
- KMID: 2455765
- Korean J Radiol.
- 2019 Sep;20(9):1368-1380.
- doi: 10.3348/kjr.2019.0057
Lung cysts are commonly seen on computed tomography (CT), and cystic lung diseases show a wide disease spectrum. Thus, correct diagnosis of cystic lung diseases is a challenge for radiologists.... -
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