Urbach-Wiethe disease in O.R.L. practice. (A clinical and histochemical study of the laryngeal lesions).
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.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004950:Esterases / Q000378:metabolism; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007820:Laryngeal Mucosa / Q000201:enzymology / Q000473:pathology*; D007830:Larynx / Q000473:pathology*; D008064:Lipidoses / Q000473:pathology*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000201:enzymology / Q000473:pathology*; D008297:Male; D013385:Succinate Dehydrogenase / Q000378:metabolism
D013385:Succinate Dehydrogenase; D004950:Esterases