1. [Hyalinosis cutis et mucosae--Urbach-Whiete syndrome. Review and case report].
- Author
-
Rinke E, Pilz I, Schwarz T, and Zechner G
- Subjects
- Abnormalities, Multiple diagnosis, Abnormalities, Multiple genetics, Adolescent, Child, Genes, Recessive, Humans, Lipid Metabolism, Inborn Errors diagnosis, Male, Otorhinolaryngologic Diseases diagnosis, Otorhinolaryngologic Diseases genetics, Skin Diseases diagnosis, Hyalin metabolism, Lipid Metabolism, Inborn Errors genetics, Mucous Membrane metabolism, Skin metabolism, Skin Diseases genetics
- Abstract
We present the Urbach-Whiete-Syndrome as a rare cause of hoarseness in children. As such patients often present initially to the E.N.T. surgeon, we should like to draw attention to this autosomal recessive condition. Only symptomatic treatment is possible, and genetic counselling should be considered. The diagnosis of the disease should be as prompt as possible.
- Published
- 1986