Lipoid Proteinosis: Case Report of Otolaryngological Findings

Objective: Lipoid proteinosis, or Urbach-Wiethe disease, was first described in 1929. It is a rare recessive genetic disorder that causes a buildup of hyaline material in the skin and mucosa. The objective of this paper is to report a case of lipoid proteinosis, or Urbach Wiethe disease, emphasizing its otolaryngological manifestations.Method: A 38-year-old patient presented since young childhood with skin lesions on buttocks, face, arms, and legs and a weak cry. Currently, the patient has hoarseness that keeps her from talking on the telephone, anodontia, pale and stiff oral mucosa (specially frenulum and tongue), and narrowed nasal vestibules.Results: The clinical investigation included a videolaryngoscopy that showed an infiltration of the arytenoids and epiglottis. The vocal cords had normal mobility and coaptation. In order to confirm the diagnosis, a skin biopsy was performed, and the deposition of hyaline positive PAS material was found in the papillar derme. This rare disease does not have a speci...