Case Reports
doi: 10.1046/j.1440-0960.2002.00618.x.
Birt-Hogg-Dubé syndrome and multinodular goitre
Affiliations
- PMID: 12423440
- DOI: 10.1046/j.1440-0960.2002.00618.x
Item in Clipboard
Case Reports
Birt-Hogg-Dubé syndrome and multinodular goitre
Australas J Dermatol.
2002 Nov.
Abstract
A 50-year-old woman presented with multiple skin-coloured facial papules. There was a family history of similar lesions. Histology of one of these papules was consistent with fibrofolliculoma. Multiple fibrofolliculomas together with flexural acrochordons suggested the diagnosis of Birt-Hogg-Dubé syndrome. Investigations to exclude associated disease revealed changes consistent with multinodular goitre on thyroid ultrasound. The literature regarding the association of Birt-Hogg-Dubé syndrome with internal disease is reviewed.
Similar articles
-
Birt-Hogg-Dubé syndrome.Australas J Dermatol. 2003 Feb;44(1):52-6. doi: 10.1046/j.1440-0960.2003.00638.x. Australas J Dermatol. 2003. PMID: 12581083
-
Birt-Hogg-Dubé Syndrome.Int J Dermatol. 2005 Aug;44(8):668-73. doi: 10.1111/j.1365-4632.2004.02095.x. Int J Dermatol. 2005. PMID: 16101870
-
Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome.J Am Acad Dermatol. 2005 Aug;53(2 Suppl 1):S108-11. doi: 10.1016/j.jaad.2004.11.021. J Am Acad Dermatol. 2005. PMID: 16021156
-
Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? Case reports and review of the literature.Am J Dermatopathol. 1999 Aug;21(4):369-74. doi: 10.1097/00000372-199908000-00011. Am J Dermatopathol. 1999. PMID: 10446780 Review.
-
Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules.J Am Acad Dermatol. 2003 Oct;49(4):698-705. doi: 10.1067/s0190-9622(03)01582-2. J Am Acad Dermatol. 2003. PMID: 14512919 Review.
Cited by
-
Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.Korean J Intern Med. 2019 Jul;34(4):830-840. doi: 10.3904/kjim.2018.119. Epub 2018 Oct 26. Korean J Intern Med. 2019. PMID: 30360018 Free PMC article.
-
A rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies.Case Rep Pathol. 2014;2014:753694. doi: 10.1155/2014/753694. Epub 2014 Dec 25. Case Rep Pathol. 2014. PMID: 25610687 Free PMC article.
-
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.Hum Mutat. 2009 Sep;30(9):E880-90. doi: 10.1002/humu.21075. Hum Mutat. 2009. PMID: 19562744 Free PMC article.
-
Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.Genes Chromosomes Cancer. 2011 Jun;50(6):466-77. doi: 10.1002/gcc.20872. Epub 2011 Mar 15. Genes Chromosomes Cancer. 2011. PMID: 21412933 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
