Adult-Type Rhabdomyoma of the Larynx in Birt–Hogg–Dubé 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 be considered as a differential, with endoscopic excision being the treatment of choice.

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