Adult-Type Rhabdomyoma of the Larynx in Birt-Hogg-Dube Syndrome: Evidence for a Real Association

被引：12

作者：

Balakumar, Ramkishan ^{[1
]}

Farr, Matthew R. B. ^{[1
]}

Fernando, Malee ^{[2
]}

Jebreel, Ala ^{[1
]}

Ray, Jaydip ^{[1
]}

Sionis, Sara ^{[1
]}

机构：

[1] Sheffield Teaching Hosp NHS Fdn Trust, Royal Hallamshire Hosp, Dept Ear Nose & Throat, Glossop Rd, Sheffield S10 2JF, S Yorkshire, England

[2] Sheffield Teaching Hosp NHS Fdn Trust, Royal Hallamshire Hosp, Dept Histopathol, Sheffield, S Yorkshire, England

来源：

HEAD & NECK PATHOLOGY | 2019年 / 13卷 / 03期

关键词：

Birt-Hogg-Dube syndrome; Rhabdomyoma; Folliculin; Larynx; CARDIAC RHABDOMYOMA; PATHWAY; HEAD; NECK;

D O I：

10.1007/s12105-018-0922-6

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

The autosomal dominant Birt-Hogg-Dube syndrome is known to be associated with skin, lung and kidney lesions. It is caused by heterozygous germline mutations in the folliculin gene and has a high penetrance. We report the case of a 51 year old woman with Birt-Hogg-Dube syndrome who presented with a laryngeal mass. Imaging confirmed a mass centered on the piriform sinus and following excision histological examination confirmed the lesion was composed of polygonal cells with abundant eosinophilic cytoplasm consistent with a rhabdomyoma. Laryngeal rhabdomyoma is rare condition and has not been previously described in association with Birt-Hogg-Dube. In patients with Birt-Hogg-Dube syndrome who develop upper aerodigestive tract symptoms secondary to mass lesion an adult-type rhabdomyoma might be considered as a differential, with endoscopic excision being the treatment of choice.

引用

页码：507 / 511

页数：5

共 17 条

[1] Is Cardiac Rhabdomyoma a Feature of Birt Hogg Dube Syndrome? [J].