MANIFESTATIONS OF THE URBACH-WIETHE SYNDR OME IN THE ENT REGION

Urbach-Wiethe's syndrome (hyalinosis cutis et mucosae) is a rare genet ic defect of probably autosomal recessive origin. The exact nature con cerning the pathogenesis of this disorder is still controversial. A ch aracteristic symptom in early childhood might be hoarseness, later on manifestations with hyalin deposits in the larynx, oral cavity and oro pharynx might occur as well as yellowish-white papular deposits in the skin. The overall prognosis of this disease is good, therapeutic inte rvention might be necessary for functional purposes (narrowing of the laryngeal lumen) and consists of surgical removal of the lesions.