Multiple Neurilemmomas in Birt-Hogg-Dube Syndrome: Case Report

被引：4
作者：
Renfree, Kevin J. [1 ]
Lawless, Kara L. [1 ]
机构：
[1] Mayo Clin Arizona, Dept Orthopaed Surg, Phoenix, AZ 85054 USA
来源：
JOURNAL OF HAND SURGERY-AMERICAN VOLUME | 2012年 / 37A卷 / 04期
关键词：
Birt-Hogg-Dube; fibrofolliculoma; multifocal; neural tumor; neurilemmoma; SPONTANEOUS PNEUMOTHORAX; KIDNEY NEOPLASIA; SPECTRUM; FAMILIES; CYSTS;
D O I：
10.1016/j.jhsa.2011.12.011
中图分类号：
R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];
学科分类号：
摘要：
We present a case of a young woman with Birt-Hogg-Dube syndrome and multiple neurilemmomas involving different nerves in a single extremity. Birt-Hogg-Dube is an uncommon but increasingly recognized syndrome. Hand surgeons may wish to consider this disease when faced with a patient with multiple neurilemmomas, especially when associated with renal tumors, spontaneous pneumothoraces, or other benign or malignant neural or non-neural tumors. (J Hand Surg 2012;37A:792-794. Copyright (C) 2012 by the American Society for Surgery of the Hand. All rights reserved.)
引用
收藏
页码：792 / 794
页数：3
相关论文
共 10 条
[1]   Birt-Hogg-Dube Syndrome with Multiple Cysts and Recurrent Pneumothorax: Pathological Findings [J].
Hayashi, Makoto ;
Takayanagi, Noboru ;
Ishiguro, Takashi ;
Sugita, Yutaka ;
Kawabata, Yoshinori ;
Fukuda, Yuh .
INTERNAL MEDICINE, 2010, 49 (19) :2137-2142
[2]   Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature [J].
Kunogi, Makiko ;
Kurihara, Masatoshi ;
Ikegami, Takako Shigihara ;
Kobayashi, Toshiyuki ;
Shindo, Noriko ;
Kumasaka, Toshio ;
Gunji, Yoko ;
Kikkawa, Mika ;
Iwakami, Shin-ichiro ;
Hino, Okio ;
Takahashi, Kazuhisa ;
Seyama, Kuniaki .
JOURNAL OF MEDICAL GENETICS, 2010, 47 (04) :281-287
[3]   Birt-Hogg-Dube syndrome: diagnosis and management [J].
Menko, Fred H. ;
van Steensel, Maurice A. M. ;
Giraud, Sophie ;
Friis-Hansen, Lennart ;
Richard, Stephane ;
Ungari, Silvana ;
Nordenskjold, Magnus ;
Hansen, Thomas v. O. ;
Solly, John ;
Maher, Eamonn R. .
LANCET ONCOLOGY, 2009, 10 (12) :1199-1206
[4]   Multifocal neurilemomas in the same upper extremity - Case report [J].
Rosberg, HE ;
Ekerot, L .
SCANDINAVIAN JOURNAL OF PLASTIC AND RECONSTRUCTIVE SURGERY AND HAND SURGERY, 1996, 30 (02) :153-156
[5]   Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome [J].
Schmidt, LS ;
Nickerson, ML ;
Warren, MB ;
Glenn, GM ;
Toro, JR ;
Merino, MJ ;
Turner, ML ;
Choyke, PL ;
Sharma, N ;
Peterson, J ;
Morrison, P ;
Maher, ER ;
Walther, MM ;
Zbar, B ;
Linehan, WM .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (06) :1023-1033
[6]   Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2 [J].
Schmidt, LS ;
Warren, MB ;
Nickerson, ML ;
Weirich, G ;
Matrosova, V ;
Toro, JR ;
Turner, ML ;
Duray, P ;
Merino, M ;
Hewitt, S ;
Pavlovich, CP ;
Glenn, G ;
Greenberg, CR ;
Linehan, WM ;
Zbar, B .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) :876-882
[7]   BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome:: a new series of 50 families and a review of published reports [J].
Toro, J. R. ;
Wei, M-H ;
Glenn, G. M. ;
Weinreich, M. ;
Toure, O. ;
Vocke, C. ;
Turner, M. ;
Choyke, P. ;
Merino, M. J. ;
Pinto, P. A. ;
Steinberg, S. M. ;
Schmidt, L. S. ;
Linehan, W. M. .
JOURNAL OF MEDICAL GENETICS, 2008, 45 (06) :321-331
[8]   Birt-Hogg-Dube syndrome - A novel marker of kidney neoplasia [J].
Toro, JR ;
Glenn, G ;
Duray, P ;
Darling, T ;
Weirich, G ;
Zbar, B ;
Linehan, M ;
Turner, ML .
ARCHIVES OF DERMATOLOGY, 1999, 135 (10) :1195-1202
[9]   Birt-Hogg-Dube syndrome: Two patients with neural tissue tumors [J].
Vincent, A ;
Farley, M ;
Chan, E ;
James, WD .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2003, 49 (04) :717-719
[10]  
Zbar B, 2002, CANCER EPIDEM BIOMAR, V11, P393
1