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Birt-Hogg-Dube syndrome 2(BHD2)

MedGen UID:
1841312
Concept ID:
C5830676
Disease or Syndrome
Synonym: BHD2
 
Gene (location): PRDM10 (11q24.3)
 
Monarch Initiative: MONDO:0800455
OMIM®: 620459

Definition

Birt-Hogg-Dube syndrome-2 (BHD2) is characterized by lipomatosis and fibrofolliculomas as well as renal cell carcinoma and other cancers (van de Beek et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of BHD, see BHD1 (135150). [from OMIM]

Clinical features

From HPO
Clear cell carcinoma of kidney
MedGen UID:
76018
Concept ID:
C0279702
Neoplastic Process
A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.
Fibrofolliculoma
MedGen UID:
138032
Concept ID:
C0346011
Neoplastic Process
Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Perifollicular fibroma
MedGen UID:
312363
Concept ID:
C1704236
Neoplastic Process
Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.
Pulmonary cyst
MedGen UID:
107790
Concept ID:
C0546483
Anatomical Abnormality
A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.

Term Hierarchy

Professional guidelines

PubMed

Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM
Am J Med Genet A 2023 Feb;191(2):490-497. Epub 2022 Dec 13 doi: 10.1002/ajmg.a.63049. PMID: 36513625Free PMC Article
Maher ER
World J Urol 2018 Dec;36(12):1891-1898. Epub 2018 Apr 21 doi: 10.1007/s00345-018-2288-5. PMID: 29680948Free PMC Article
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

Recent clinical studies

Etiology

Kennedy JC, Khabibullin D, Boku Y, Shi W, Henske EP
Semin Respir Crit Care Med 2020 Apr;41(2):247-255. Epub 2020 Apr 12 doi: 10.1055/s-0040-1708500. PMID: 32279295
Schmidt LS, Linehan WM
Gene 2018 Jan 15;640:28-42. Epub 2017 Sep 29 doi: 10.1016/j.gene.2017.09.044. PMID: 28970150Free PMC Article
Kennedy JC, Khabibullin D, Henske EP
Semin Cell Dev Biol 2016 Apr;52:47-52. Epub 2016 Feb 10 doi: 10.1016/j.semcdb.2016.02.014. PMID: 26877139
Dal Sasso AA, Belém LC, Zanetti G, Souza CA, Escuissato DL, Irion KL, Guimarães MD, Marchiori E
Respir Med 2015 Mar;109(3):289-96. Epub 2014 Dec 9 doi: 10.1016/j.rmed.2014.11.008. PMID: 25519092
Haas NB, Nathanson KL
Adv Chronic Kidney Dis 2014 Jan;21(1):81-90. doi: 10.1053/j.ackd.2013.10.001. PMID: 24359990Free PMC Article

Diagnosis

Pagan AD, Obi A, McKinley J, Oladunjoye E, Kasago I, Gulati N, Phelps RG, Svidzinski C
J Am Acad Dermatol 2024 Feb;90(2):412-414. Epub 2023 Oct 13 doi: 10.1016/j.jaad.2023.09.081. PMID: 37838258
Koslow M, Lynch DA, Cool CD, Groshong SD, Downey GP
Immunol Allergy Clin North Am 2023 May;43(2):359-377. doi: 10.1016/j.iac.2023.01.003. PMID: 37055093Free 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
Gupta S, Kang HC, Ganeshan D, Morani A, Gautam R, Choyke PL, Kundra V
AJR Am J Roentgenol 2017 Dec;209(6):1291-1296. Epub 2017 Oct 5 doi: 10.2214/AJR.17.18071. PMID: 28981362
Dal Sasso AA, Belém LC, Zanetti G, Souza CA, Escuissato DL, Irion KL, Guimarães MD, Marchiori E
Respir Med 2015 Mar;109(3):289-96. Epub 2014 Dec 9 doi: 10.1016/j.rmed.2014.11.008. PMID: 25519092

Therapy

RECOVERY Collaborative Group
Lancet Child Adolesc Health 2024 Mar;8(3):190-200. Epub 2024 Jan 22 doi: 10.1016/S2352-4642(23)00316-4. PMID: 38272046
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
Amin A, Burgess EF
Semin Oncol 2016 Jun;43(3):408-12. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.016. PMID: 27178696
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
Richards JC, Lynch DA, Chung JH
Clin Chest Med 2015 Jun;36(2):299-312, ix. Epub 2015 Apr 2 doi: 10.1016/j.ccm.2015.02.011. PMID: 26024606

Prognosis

Kennedy JC, Khabibullin D, Boku Y, Shi W, Henske EP
Semin Respir Crit Care Med 2020 Apr;41(2):247-255. Epub 2020 Apr 12 doi: 10.1055/s-0040-1708500. PMID: 32279295
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
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
Kuroda N, Furuya M, Nagashima Y, Gotohda H, Kawakami F, Moritani S, Ota S, Hora M, Michal M, Hes O, Nakatani Y
Pol J Pathol 2014 Jun;65(2):93-9. doi: 10.5114/pjp.2014.43958. PMID: 25119168
Ryu JH, Tian X, Baqir M, Xu K
Front Med 2013 Sep;7(3):316-27. Epub 2013 May 11 doi: 10.1007/s11684-013-0269-z. PMID: 23666611

Clinical prediction guides

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
Urology 2023 Sep;179:58-70. Epub 2023 Jun 16 doi: 10.1016/j.urology.2023.04.035. PMID: 37331486Free PMC Article
Kennedy JC, Khabibullin D, Boku Y, Shi W, Henske EP
Semin Respir Crit Care Med 2020 Apr;41(2):247-255. Epub 2020 Apr 12 doi: 10.1055/s-0040-1708500. PMID: 32279295
Amin A, Burgess EF
Semin Oncol 2016 Jun;43(3):408-12. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.016. PMID: 27178696
Kuroda N, Furuya M, Nagashima Y, Gotohda H, Kawakami F, Moritani S, Ota S, Hora M, Michal M, Hes O, Nakatani Y
Pol J Pathol 2014 Jun;65(2):93-9. doi: 10.5114/pjp.2014.43958. PMID: 25119168
Ryu JH, Tian X, Baqir M, Xu K
Front Med 2013 Sep;7(3):316-27. Epub 2013 May 11 doi: 10.1007/s11684-013-0269-z. PMID: 23666611

Recent systematic reviews

Peraza Labrador A, Umorin M, Shrestha M, Abad Villacrez C, Wright J
Head Neck Pathol 2024 Jun 19;18(1):52. doi: 10.1007/s12105-024-01657-y. PMID: 38896302Free PMC Article
Zhang H, Andreou A, Bhatt R, Whitworth J, Yngvadottir B, Maher ER
Eur J Hum Genet 2024 Aug;32(8):887-894. Epub 2024 May 27 doi: 10.1038/s41431-024-01628-5. PMID: 38802529Free PMC Article

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