Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

Abstract

Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the otolaryngologist as it is a rare cause of hoarseness of voice.

Lipoid proteinozis (Urbach-Wiethe hastalığı): Nadir bir durum ve literatürün incelenmesi

“…Although many autopsy studies have found that LP can be defined as a generalized disorder with microscopic hyaline deposition in practically every organ, the symptoms related to other visceral organs have not been clarified yet. [32,33] Hoarseness has been identified as the first symptom of LP. Moreover, it was also the first finding in our case.…”

“…Skin lesions are generally seen as nodules on the face and lips (at earlier stages), and they then become hyperkeratotic. [33,34] In some patients, symptoms may be observed since birth. Since voice hoarseness occurs in neonatal period, it is one of the three entities that should be considered.…”

Lipoid Proteinosis; A Case Report With Difficult Intubation

“…Sometimes thickening of the vocal cords and adjacent tissues is also seen. Many patients are unable to open full mouth and laryngoscopy is not possible 9 . In present case report there was also difficulty in opening the mouth and intubation was very difficult that why we used only 5.5 mm ETT for intubation.…”