Oral, pharyngeal and laryngeal manifestations in Urbach-Wiethe disease

Twenty-eight patients suffering from Urbach-Wiethe disease (UWD) and originating in northern Sweden are presented. The disease is characterized by amorphous deposits in the mucous membranes of the mouth, pharynx and larynx. Hoarseness since early childhood is the most common and striking symptom. Most of the patients also had severe changes in the true vocal cords. Characteristic deposits are also seen in the lower lip, tongue, palate and the posterior pharyngeal wall. These changes could be defined as pathognomonic of UWD. To confirm the diagnosis of UWD, biopsies should be taken from the skin or mucous membranes of the mouth. Biopsies from the vocal cords are not necessary and should be avoided.