Ehlers-Danlos syndrome presenting as dysphonia and manifesting as tongue hypermobility: Report of 2 cases

• Published in: Ear, nose, & throat journal Vol. 88; no. 2; pp. E8 - 12
• Main Authors: Richmon, Jeremy D, Wang-Rodriguez, Jessica, Thekdi, Apurva A
• Format: Journal Article
• Language: English
• Published: United States 01.02.2009
• Subjects: Adult; Dysphonia - diagnosis; Dysphonia - etiology; Ehlers-Danlos Syndrome - complications; Ehlers-Danlos Syndrome - diagnosis; Ehlers-Danlos Syndrome - physiopathology; Female; Humans; Joint Instability - etiology; Joint Instability - physiopathology; Laryngoscopy; Male; Stroboscopy; Tongue Diseases - etiology; Tongue Diseases - physiopathology
• ISSN: 1942-7522

Ehlers-Danlos syndrome (EDS) comprises a group of related hereditary connective tissue diseases. EDS manifests as joint hypermobility, tissue elasticity, and easy bruising. Although affected patients typically present to primary care physicians, orthopedists, and rheumatologists, some head and neck symptoms (e.g., dysphonia, dysphagia, and/or temporomandibular joint complaints) may direct some to an otolaryngologist. We describe the cases of 2 patients who presented to our otolaryngology clinic for evaluation of dysphonia. On physical examination, both exhibited tongue hypermobility, and both were subsequently diagnosed with EDS. We also review the results of our comprehensive literature search, in which we found only 3 articles that specifically described tongue hypermobility; in each case, the hypermobility was related to EDS. Finally, we discuss presentations of EDS that otolaryngologists might encounter.