Birt-Hogg-Dube Syndrome: A Review of Dermatological Manifestations and Other Symptoms

被引：35

作者：

Tong, Yun ^{[1
]}

Schneider, Jeremy A. ^{[1
]}

Coda, Alvin B. ^{[2
]}

Hata, Tissa R. ^{[1
]}

Cohen, Philip R. ^{[1
]}

机构：

[1] Univ Calif San Diego, Dept Dermatol, 8899 Univ Ctr Lane,Suite 350, San Diego, CA 92122 USA

[2] Scripps Hlth, La Jolla, CA USA

来源：

AMERICAN JOURNAL OF CLINICAL DERMATOLOGY | 2018年 / 19卷 / 01期

关键词：

CYSTIC LUNG-DISEASE; SPONTANEOUS PNEUMOTHORAX; TUBEROUS SCLEROSIS; PULMONARY CYSTS; RENAL TUMORS; CLEAR-CELL; BHD GENE; MULTIPLE FIBROFOLLICULOMAS; PERIFOLLICULAR FIBROMAS; RECURRENT PNEUMOTHORAX;

D O I：

10.1007/s40257-017-0307-8

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant genodermatosis with malignant potential characterized by cutaneous and extracutaneous stigmata. Aberrations in the folliculin (FLCN) gene, which is located on chromosome 17, have been discovered in individuals with this condition. Over 150 unique mutations have been identified in BHD. The skin lesions associated with this condition include fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons. Extracutaneous features of the syndrome typically include the lung (spontaneous pneumothorax and cysts) and the kidney (neoplasms). The only malignancies associated with BHD are renal cancers; however, other tumors have been observed in individuals with BHD. In this article, the skin lesions associated with this condition are reviewed, lung and renal manifestations associated with this syndrome are presented, and malignancies occurring in these patients are summarized.

引用

页码：87 / 101

页数：15

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