Urbach-Wiethe disease in O.R.L. practice (A clinical and histochemical study of the laryngeal lesions)

Abstract

Urbach-Wiethe disease is a rare disorder, inherited in an autosomal recessive fashion. In this work we have studied the clinical data in six patients with well-established UWD. The histopathological and histochemical findings are discussed. Unless the otolaryngologist has a knowledge of the disease, the diagnosis can be missed.

Lipoid proteinosis

“…[78] Therefore, the importance of LP should not be underestimated by otolaryngologists, and it should be included in the differential diagnosis of voice changes and hoarseness, in infancy and childhood. [9]…”

Lipoid Proteinosis: Urbach-Wiethe Disease

“…Radiographically, soft tissue films may demonstrate any pronounced laryngeal involvement, although dieir use in preoperative investigation is of limited usefulness. Biopsies of laryngeal mucosa have demonstrated scanty mucous glands surrounded by deposits of hyaline material [8]. It is postulated that this may account for the diminished lubrication exaggerating the dysphagia and problems of phonation.…”

“…The reduction in pharyngeal secretions mitigate against the use of antisialagogue premedication. The friable inelastic mucosa dictates that laryngeal instrumentation and tracheal intubation should be as gentle as possible, although protracted haemorrhage has not been reported in these patients [8]. The infiltration of the soft tissues of the tongue and larynx may cause difficulties with direct laryngoscopy and it would be advisable, especially in those with severe disease, to be prepared to use a flexible fibreoptic laryngoscope to visualize the larynx and secure intubation.…”