Multifocal adult rhabdomyoma of the head and neck: case report and systematic review of the literature

Adult extracardiac rhabdomyomas presenting as a slowly growing neck mass

“…MR findings include enhancing well-circumscribed lesions which are isointense to muscle on T1-weighte images and iso- to hyperintense on T2. CT findings are much better described in literature given the widespread availability of the imaging modality and include homogenous enhancing pattern with the absence of any infiltrative features [13 , 14] . Given the multifocal nature of these tumors which conform to the neck spaces and the absence of invasive features, these tumors strongly mimic lymphoma and differentiation is not possible on imaging alone.…”

“…The tumor can develop in the oral cavity, submandibular region, tongue, pharynx, larynx, soft palate, thyroid, cheek, tonsillar region, and parapharyngeal space, among other places in the head and neck. It might also appear as a single lesion, or as multinodular or multifocal lesions [12 , 13] . Imaging work-up of these tumors is best done with MRI which has far superior soft-tissue demarcation as compared to CT scan.…”

Multifocal extracardiac rhabdomyomas: extending the phenotype of Birt–Hogg–Dubé syndrome

“…Extracardiac rhabdomyomas are categorized as adult, fetal and genital types 2 . Adult‐type extracardiac rhabdomyomas have a predominance in men (average age of presentation 65 years) with the head and neck being the main site 3 . Patients may present with dysphagia and hoarseness, and other symptoms may include pain and new‐onset snoring.…”

“…Patients may present with dysphagia and hoarseness, and other symptoms may include pain and new‐onset snoring. Multifocal extracardiac rhabdomyomas are rare, with 33 cases ever reported, predominantly in male patients over the age of 50 years 3 . Such cases are suggestive of a genetic predisposition; however, unlike cardiac rhabdomyomas which have been reported in tuberous sclerosis and Möbius syndrome, 4 a genetic basis has not been elucidated 3,5 .…”

“…Multifocal extracardiac rhabdomyomas are rare, with 33 cases ever reported, predominantly in male patients over the age of 50 years 3 . Such cases are suggestive of a genetic predisposition; however, unlike cardiac rhabdomyomas which have been reported in tuberous sclerosis and Möbius syndrome, 4 a genetic basis has not been elucidated 3,5 . It is of interest that in one case of multifocal extracardiac rhabdomyomas, 3 multiple perinasal papules were noted; however, BHD was not considered and a skin biopsy was not performed.…”