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Anais Brasileiros de Dermatologia
On-line version ISSN 1806-4841
PEREIRA, Luciana Baptista and GONTIJO, João Renato Vianna. Do you know this Syndrome. An. Bras. Dermatol. [online]. 2008, vol.83, n.6, pp. 575-577. ISSN 1806-4841. http://dx.doi.org/10.1590/S0365-05962008000600014.
Urbach-Wiethe disease, also named lipoproteinosis or hyalinosis cutis et mucosae (OMIM 247100), is a rare autosomal recessive disorder of unknown pathogenesis with hyaline-like material deposition in the skin, oral mucosa and internal organs. Typical features include hoarseness, papules and nodules on the face, characteristically along the eyelid margins, pitted scars, diffuse thickening and yellow discoloration of the skin, and verrucous lesions in areas subjected to trauma.
Keywords : Genetic diseases, inborn; Lipoid proteinosis of Urbach and Wiethe; Skin diseases, genetic.