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Multiple fibrofolliculomas

MedGen UID:
1830278
•Concept ID:
C5779556
•
Neoplastic Process
Synonym: Multiple fibrofolliculomata
SNOMED CT: Multiple fibrofolliculomata (110985001); Multiple fibrofolliculomas (110985001)
 
Related genes: FLCN, PRDM10

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
Rossing M, Albrechtsen A, Skytte AB, Jensen UB, Ousager LB, Gerdes AM, Nielsen FC, Hansen TV
J Hum Genet 2017 Feb;62(2):151-157. Epub 2016 Oct 13 doi: 10.1038/jhg.2016.118. PMID: 27734835

Recent clinical studies

Etiology

What is in a name-Perifollicular fibroma or fibrofolliculoma?
Haneke E, Happle R
J Cutan Pathol 2024 Feb;51(2):170-175. Epub 2023 Aug 30 doi: 10.1111/cup.14522. PMID: 37649357
Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome.
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
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.
Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, Bessis D
Br J Dermatol 2010 Mar;162(3):527-37. Epub 2009 Sep 26 doi: 10.1111/j.1365-2133.2009.09517.x. PMID: 19785621
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.
Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH
J Invest Dermatol 2008 Jan;128(1):45-9. Epub 2007 Jul 5 doi: 10.1038/sj.jid.5700959. PMID: 17611575

Diagnosis

Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome.
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
Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration.
Happle R
Am J Med Genet A 2012 Jun;158A(6):1247-51. Epub 2012 May 11 doi: 10.1002/ajmg.a.35330. PMID: 22581760
Birt-Hogg-Dubé syndrome and multinodular goitre.
Drummond C, Grigoris I, Dutta B
Australas J Dermatol 2002 Nov;43(4):301-4. doi: 10.1046/j.1440-0960.2002.00618.x. PMID: 12423440
Flesh-coloured micropapules on the face and upper trunk.
Kossard S, Zagarella S
Australas J Dermatol 1996 Feb;37(1):55-6. doi: 10.1111/j.1440-0960.1996.tb00998.x. PMID: 8936075
Fibrofolliculomas, trichodiscomas, and acrochordons: the Birt-Hogg-Dubé syndrome.
Ubogy-Rainey Z, James WD, Lupton GP, Rodman OG
J Am Acad Dermatol 1987 Feb;16(2 Pt 2):452-7. doi: 10.1016/s0190-9622(87)70060-7. PMID: 3819093

Prognosis

Birt-Hogg-Dubé syndrome: an underdiagnosed genetic tumor syndrome.
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

Clinical prediction guides

Fibrofolliculoma in a patient with tuberous sclerosis complex.
Misago N, Narisawa Y
Clin Exp Dermatol 2009 Dec;34(8):892-4. Epub 2009 Jan 15 doi: 10.1111/j.1365-2230.2008.03065.x. PMID: 19196303
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.
Leter EM, Koopmans AK, Gille JJ, van Os TA, Vittoz GG, David EF, Jaspars EH, Postmus PE, van Moorselaar RJ, Craanen ME, Starink TM, Menko FH
J Invest Dermatol 2008 Jan;128(1):45-9. Epub 2007 Jul 5 doi: 10.1038/sj.jid.5700959. PMID: 17611575
Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? Case reports and review of the literature.
De la Torre C, Ocampo C, Doval IG, Losada A, Cruces MJ
Am J Dermatopathol 1999 Aug;21(4):369-74. doi: 10.1097/00000372-199908000-00011. PMID: 10446780
Multiple fibrofolliculomas (Birt-Hogg-Dubé) associated with a large connective tissue nevus.
Weintraub R, Pinkus H
J Cutan Pathol 1977 Dec;4(6):289-99. doi: 10.1111/j.1600-0560.1977.tb00920.x. PMID: 753849

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