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Definition: a disturbance of lipid metabolism in which there are deposits of a protein-lipid complex on the tongue and sublingual and faucial areas leading to hoarseness and translucent keratotic papillomatous eyelid lesions; autosomal recessive inheritance, frequently with specific intracranial calcifications.
Synonym(s): hyalinosis cutis et mucosae, lipoidosis cutis et mucosae, Urbach-Wiethe disease
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