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伯-霍-杜氏综合征与结节性甲状腺肿

Birt-Hogg-Dubé syndrome and multinodular goitre.

作者信息

Drummond Catherine, Grigoris Irene, Dutta Bish

机构信息

Prince of Wales Hospital, New South Wales, Australia.

出版信息

Australas J Dermatol. 2002 Nov;43(4):301-4. doi: 10.1046/j.1440-0960.2002.00618.x.

DOI:10.1046/j.1440-0960.2002.00618.x
PMID:12423440
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.

摘要

一名50岁女性出现多个肤色面部丘疹。有类似皮损的家族史。其中一个丘疹的组织学表现符合纤维毛囊瘤。多个纤维毛囊瘤合并屈侧皮赘提示诊断为Birt-Hogg-Dubé综合征。排除相关疾病的检查显示甲状腺超声检查结果与结节性甲状腺肿相符。本文对Birt-Hogg-Dubé综合征与内科疾病关联的文献进行了综述。

相似文献

1
Birt-Hogg-Dubé syndrome and multinodular goitre.伯-霍-杜氏综合征与结节性甲状腺肿
Australas J Dermatol. 2002 Nov;43(4):301-4. doi: 10.1046/j.1440-0960.2002.00618.x.
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Birt-Hogg-Dubé syndrome.Birt-Hogg-Dubé综合征。
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Birt-Hogg-Dubé Syndrome.Birt-Hogg-Dubé综合征。
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Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome.多发性面部血管纤维瘤:Birt-Hogg-Dubé综合征的一种皮肤表现。
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Successful treatment of facial papules with electrodessication in a patient with Birt-Hogg-Dubé syndrome.
Dermatol Online J. 2014 Jul 15;20(7):13030/qt6vn5h0v9.
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Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? Case reports and review of the literature.皮赘并非Birt-Hogg-Dubé综合征的组成部分:该综合征是否存在?病例报告及文献综述
Am J Dermatopathol. 1999 Aug;21(4):369-74. doi: 10.1097/00000372-199908000-00011.
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Numerous asymptomatic facial papules and multiple pulmonary cysts: a case of Birt-Hogg-Dubé syndrome.多发性无症状面部丘疹及多发性肺囊肿:一例Birt-Hogg-Dubé综合征
Cutis. 2003 Aug;72(2):127-31.
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Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dubè.遗传性多发性纤维毛囊瘤、毛发上皮瘤和皮赘:Birt-Hogg-Dubè综合征。
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Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.Birt-Hogg-Dubé综合征:一种肾肿瘤形成的新标志物。
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[Fibrofolliculoma, trichodiscoma and acrochordon. The Birt-Hogg-Dubé syndrome].[纤维毛囊瘤、毛发上皮瘤和皮赘。Birt-Hogg-Dubé综合征]
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引用本文的文献

1
Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.Birt-Hogg-Dubé 综合征在韩国的临床和影像学特征及长期随访结果。
Korean J Intern Med. 2019 Jul;34(4):830-840. doi: 10.3904/kjim.2018.119. Epub 2018 Oct 26.
2
A rare soft tissue tumor masquerading as a parathyroid adenoma in a patient with birt-hogg-dubé syndrome and multiple cervical endocrinopathies.一名患有Birt-Hogg-Dubé综合征和多种颈部内分泌病的患者中,一种罕见的软组织肿瘤伪装成甲状旁腺腺瘤。
Case Rep Pathol. 2014;2014:753694. doi: 10.1155/2014/753694. Epub 2014 Dec 25.
3
Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.鉴定 Birt-Hogg-Dubé 综合征中 FLCN 基因的内含子缺失和重复。
Genes Chromosomes Cancer. 2011 Jun;50(6):466-77. doi: 10.1002/gcc.20872. Epub 2011 Mar 15.
4
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.卵泡抑素突变数据库:一个与Birt-Hogg-Dubé综合征相关的突变在线数据库。
Hum Mutat. 2009 Sep;30(9):E880-90. doi: 10.1002/humu.21075.