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

ABSTRACT: The autosomal dominant Birt-Hogg-Dubé 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-Dubé 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-Dubé. In patients with Birt-Hogg-Dubé syndrome who develop upper aerodigestive tract symptoms secondary to mass lesion an adult-type rhabdomyoma might b

SUBMITTER: Balakumar R 

PROVIDER: S-EPMC6684558 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature