[MIM*247100] 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. SYN: hyalinosis cutis et mucosae, lipoidosis cutis et mucosae, Urbach-Wiethe disease.
