title: [Pressure-related dysphonia, recurring pneumonia and supraglottic tumor].
abstract: Urbach-Wiethe syndrome (hyalinosis cutis et mucosae) is an autosomal-recessive inherited disease. It often presents with typical symptoms such as skin lesions (especially in the face and neck area), dyspnea, and maldigestion. Hoarseness is a leading symptom in young children. These manifestations are caused by the assimilation of glycoproteins in mesenchymal tissue. Our case report shows that hoarseness does not necessarily appear only in children, but can also appear later. Furthermore, the assimilation of glycoproteins in the supraglottic area may also cause dysphonia. Due to the varied features of this disease, interdisciplinary check-ups are necessary at regular intervals.
authors.affiliation: Abteilung für Phoniatrie und Pädaudiologie der Universitäts-HNO-Klinik Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn. Katrin.Jahn@ukb.uni-bonn.de
authors.forename: K
authors.initials: K
authors.lastname: Jahn
authors.forename: H-J
authors.initials: HJ
authors.lastname: Straehler-Pohl
authors.forename: H-P
authors.initials: HP
authors.lastname: Fischer
authors.forename: G
authors.initials: G
authors.lastname: Schade
mesh_terms: D055154:Dysphonia / Q000175:diagnosis*; D004825:Epiglottis / Q000473:pathology*; D006801:Humans; D007822:Laryngeal Neoplasms / Q000175:diagnosis*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications* / Q000175:diagnosis*; D011014:Pneumonia / Q000175:diagnosis*; D011312:Pressure; D012008:Recurrence
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