Otolaryngologic manifestations of Maffucci's syndrome.
Maffucci's syndrome is an uncommon congenital disease marked by multiple vascular malformations and enchondromas throughout the body. Otolaryngologic manifestations are relatively rare but potentially can cause symptoms such as respiratory distress and dysphagia if the lesions appear in the upper aerodigestive tract or larynx. We report a case of a young woman who demonstrated a wide range of head and neck pathology associated with this unique disease, including sphenoid enchondroma, bilateral petrous apex lesions, and rarely reported laryngeal and hypopharyngeal vascular malformations, over a period of nearly 20 years.
Sun
Gordon H
GH
University of Cincinnati Academic Health Center, Department of Otolaryngology-Head and Neck Surgery, 231 Albert Sabin Way, Room 6407 MSB, P.O. Box 670528, Cincinnati, OH 45267-0528, USA. Gordon.H.Sun@gmail.com
Myer
Charles M
CM
D000293:Adolescent; D002812:Chondroma / Q000175:diagnosis / Q000209:etiology / Q000473:pathology* / Q000601:surgery; D004687:Enchondromatosis / Q000150:complications / Q000175:diagnosis / Q000473:pathology* / Q000601:surgery; D004724:Endoscopy; D005260:Female; D006801:Humans; D007013:Hypopharynx / Q000098:blood supply / Q000473:pathology / Q000601:surgery; D007830:Larynx / Q000098:blood supply / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D013517:Otorhinolaryngologic Surgical Procedures; D010255:Paranasal Sinus Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000473:pathology* / Q000601:surgery; D010579:Petrous Bone / Q000473:pathology* / Q000601:surgery; D013101:Sphenoid Sinus / Q000473:pathology* / Q000601:surgery; D014057:Tomography, X-Ray Computed; D054079:Vascular Malformations / Q000175:diagnosis / Q000209:etiology / Q000601:surgery