[Hyalinosis cutis et mucosae--Urbach-Whiete syndrome. Review and case report].
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.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002648:Child; D005808:Genes, Recessive; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009092:Mucous Membrane / Q000378:metabolism*; D010038:Otorhinolaryngologic Diseases / Q000175:diagnosis / Q000235:genetics; D012867:Skin / Q000378:metabolism*; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics*
Hyalinosis cutis et mucosae--das Urbach-Whiete-Syndrom. Eine Ubersicht und Fallvorstellung.