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Journal Article
[Hyalinosis cutis et mucosae (Urbach-Wiethe lipoidproteinosis)].
Fortschritte der Medizin 1983 April 22
Hyalinosis cutis et mucosae is a rare, probably autosomal-recessively inherited disease, which begins in the first weeks of life with a remarkable hoarseness due to deposits of hyaline material in the larynx. Later on alterations of the mucous membranes and the skin are involved. Etiology and pathogenesis are unknown. An effective treatment does not exist. We present a Turkish family whose 4 children show the typical picture of hyalinosis cutis et mucosae. The skin alterations at the mother's eyelids, however, cannot be submitted to the lipoid proteinosis Urbach-Wiethe with certainty. The occurrence of hyalinosis cutis et mucosae in the 4 children makes the hitherto presumed autosomal-recessive heredity of the disease questionable.
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