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Birt-Hogg-Dube syndrome(BHD1)

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
Synonyms: BHD syndrome; Birt Hogg Dubé syndrome
SNOMED CT: Birt Hogg Dubé syndrome (1263460007); Hornstein Knickenberg syndrome (1263460007); Fibrofolliculomas with trichodiscomas and acrochordons (1263460007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FLCN (17p11.2)
Related gene: PRDM10
 
Monarch Initiative: MONDO:0800444
OMIM®: 135150; 607273
OMIM® Phenotypic series: PS135150
Orphanet: ORPHA122

Disease characteristics

Excerpted from the GeneReview: Birt-Hogg-Dubé Syndrome
The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are often bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that can be bilateral and multifocal; median age of renal tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor(s) and/or spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]
Authors:
Elke C Sattler  |  Ortrud K Steinlein   view full author information

Additional descriptions

From OMIM
Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax (Nickerson et al., 2002). BHD is similar to, but histologically and genetically distinct from, familial multiple discoid fibromas (FMDF; 190340). Genetic Heterogeneity of Birt-Hogg-Dube Syndrome See also BHD2 (620459), caused by mutation in the PRDM10 gene (618319) on chromosome 11q24.  http://www.omim.org/entry/135150
From MedlinePlus Genetics
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.

Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dubé syndrome.  https://medlineplus.gov/genetics/condition/birt-hogg-dube-syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Birt-Hogg-Dube syndrome in Orphanet.

Professional guidelines

PubMed

Singh S, Chaurasia A, Gopal N, Malayeri A, Ball MW
Discov Med 2022 Nov-Dec;34(173):205-220. PMID: 36602871
Park S, Lee EJ
Korean J Intern Med 2017 Mar;32(2):229-238. Epub 2017 Feb 28 doi: 10.3904/kjim.2016.242. PMID: 28264540Free PMC Article
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium
Lancet Oncol 2009 Dec;10(12):1199-206. doi: 10.1016/S1470-2045(09)70188-3. PMID: 19959076

Recent clinical studies

Etiology

Cabeza Martínez B, Giménez Palleiro A, Mazzini Florindez SP
Radiologia (Engl Ed) 2022 Dec;64 Suppl 3:265-276. doi: 10.1016/j.rxeng.2022.09.005. PMID: 36737165
Bird LM, Kuo DJ, Masser-Frye D, Mo JQ, Elster JD
J Pediatr Hematol Oncol 2020 Mar;42(2):136-137. doi: 10.1097/MPH.0000000000001715. PMID: 31929385
Wong A, Galiabovitch E, Bhagwat K
ANZ J Surg 2019 Apr;89(4):303-308. Epub 2018 Jul 5 doi: 10.1111/ans.14713. PMID: 29974615
Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC
J Dtsch Dermatol Ges 2018 Mar;16(3):278-283. doi: 10.1111/ddg.13457. PMID: 29537177
Lencastre A, Ponte P, Apetato M, Nunes L, Lestre S
An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):203-5. doi: 10.1590/abd1806-4841.20132199. PMID: 24346920Free PMC Article

Diagnosis

Cabeza Martínez B, Giménez Palleiro A, Mazzini Florindez SP
Radiologia (Engl Ed) 2022 Dec;64 Suppl 3:265-276. doi: 10.1016/j.rxeng.2022.09.005. PMID: 36737165
Daccord C, Good JM, Morren MA, Bonny O, Hohl D, Lazor R
Eur Respir Rev 2020 Sep 30;29(157) Epub 2020 Sep 17 doi: 10.1183/16000617.0042-2020. PMID: 32943413Free PMC Article
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA
Am J Respir Crit Care Med 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. PMID: 30681372Free PMC Article
Raoof S, Bondalapati P, Vydyula R, Ryu JH, Gupta N, Raoof S, Galvin J, Rosen MJ, Lynch D, Travis W, Mehta S, Lazzaro R, Naidich D
Chest 2016 Oct;150(4):945-965. Epub 2016 May 13 doi: 10.1016/j.chest.2016.04.026. PMID: 27180915Free PMC Article
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium
Lancet Oncol 2009 Dec;10(12):1199-206. doi: 10.1016/S1470-2045(09)70188-3. PMID: 19959076

Therapy

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
Expert Rev Respir Med 2023 Jul-Dec;17(11):1003-1008. Epub 2023 Dec 26 doi: 10.1080/17476348.2023.2284375. PMID: 37991821Free PMC Article
Sriram JD, van de Beek I, Johannesma PC, van Werkum MH, van der Wel TJWT, Wessels EM, Gille HJJP, Houweling AC, Postmus PE, Smit HJM
BMC Pulm Med 2022 Aug 26;22(1):325. doi: 10.1186/s12890-022-02107-7. PMID: 36028846Free PMC Article
Obaidat B, Yazdani D, Wikenheiser-Brokamp KA, Gupta N
Respir Care 2020 Jan;65(1):111-126. Epub 2019 Oct 15 doi: 10.4187/respcare.07117. PMID: 31615921
Wong A, Galiabovitch E, Bhagwat K
ANZ J Surg 2019 Apr;89(4):303-308. Epub 2018 Jul 5 doi: 10.1111/ans.14713. PMID: 29974615
Hasumi H, Baba M, Hasumi Y, Furuya M, Yao M
Int J Urol 2016 Mar;23(3):204-10. Epub 2015 Nov 25 doi: 10.1111/iju.13015. PMID: 26608100

Prognosis

Sattler EC, Syunyaeva Z, Reithmair M, Dempke W, Steinlein OK
Eur J Cancer 2021 Jul;151:168-174. Epub 2021 May 14 doi: 10.1016/j.ejca.2021.04.013. PMID: 34000505
Bird LM, Kuo DJ, Masser-Frye D, Mo JQ, Elster JD
J Pediatr Hematol Oncol 2020 Mar;42(2):136-137. doi: 10.1097/MPH.0000000000001715. PMID: 31929385
Wong A, Galiabovitch E, Bhagwat K
ANZ J Surg 2019 Apr;89(4):303-308. Epub 2018 Jul 5 doi: 10.1111/ans.14713. PMID: 29974615
Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC
J Dtsch Dermatol Ges 2018 Mar;16(3):278-283. doi: 10.1111/ddg.13457. PMID: 29537177
Hasumi H, Baba M, Hasumi Y, Furuya M, Yao M
Int J Urol 2016 Mar;23(3):204-10. Epub 2015 Nov 25 doi: 10.1111/iju.13015. PMID: 26608100

Clinical prediction guides

Hu X, Zhang G, Chen X, Xu KF
Orphanet J Rare Dis 2021 May 17;16(1):223. doi: 10.1186/s13023-021-01848-8. PMID: 34001170Free PMC Article
Sattler EC, Syunyaeva Z, Reithmair M, Dempke W, Steinlein OK
Eur J Cancer 2021 Jul;151:168-174. Epub 2021 May 14 doi: 10.1016/j.ejca.2021.04.013. PMID: 34000505
Tong Y, Schneider JA, Coda AB, Hata TR, Cohen PR
Am J Clin Dermatol 2018 Feb;19(1):87-101. doi: 10.1007/s40257-017-0307-8. PMID: 28695430
Ferreira Francisco FA, Soares Souza A Jr, Zanetti G, Marchiori E
Eur Respir Rev 2015 Dec;24(138):552-64. doi: 10.1183/16000617.0046-2015. PMID: 26621970Free PMC Article
Lencastre A, Ponte P, Apetato M, Nunes L, Lestre S
An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):203-5. doi: 10.1590/abd1806-4841.20132199. PMID: 24346920Free PMC Article

Recent systematic reviews

Gui H, Chaudhari J, Mannan R
Diagn Pathol 2022 Aug 8;17(1):64. doi: 10.1186/s13000-022-01246-z. PMID: 35941667Free PMC Article
Matsumoto K, Lim D, Pharoah PD, Maher ER, Marciniak SJ
Eur J Hum Genet 2021 Nov;29(11):1595-1600. Epub 2021 Jul 15 doi: 10.1038/s41431-021-00921-x. PMID: 34267338Free PMC Article
Carlo MI, Hakimi AA, Stewart GD, Bratslavsky G, Brugarolas J, Chen YB, Linehan WM, Maher ER, Merino MJ, Offit K, Reuter VE, Shuch B, Coleman JA
Eur Urol 2019 Dec;76(6):754-764. Epub 2019 Jul 18 doi: 10.1016/j.eururo.2019.06.015. PMID: 31326218Free PMC Article
Verine J, Pluvinage A, Bousquet G, Lehmann-Che J, de Bazelaire C, Soufir N, Mongiat-Artus P
Eur Urol 2010 Nov;58(5):701-10. Epub 2010 Aug 27 doi: 10.1016/j.eururo.2010.08.031. PMID: 20817385

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