Lipoid proteinosis is rare autosomal recessive disorder starting in early infancy and characterized by deposition of hyaline material in the skin, mucous membranes, and multiple organs. Typical clinical symptoms are hoarseness, vesicles-leaving pitted scars, beaded papules on the eyelid margins, diffuse thickening of the skin with verrucous change on frictional areas, and infiltration of the oral mucosa. Mutations within the extracellular matrix protein gene (ECM-1) are the underlying defect. © 2010 Springer Science+Business Media, LLC.
Lipoid proteinosis
Rongioletti F.
Primo
2010-01-01
Abstract
Lipoid proteinosis is rare autosomal recessive disorder starting in early infancy and characterized by deposition of hyaline material in the skin, mucous membranes, and multiple organs. Typical clinical symptoms are hoarseness, vesicles-leaving pitted scars, beaded papules on the eyelid margins, diffuse thickening of the skin with verrucous change on frictional areas, and infiltration of the oral mucosa. Mutations within the extracellular matrix protein gene (ECM-1) are the underlying defect. © 2010 Springer Science+Business Media, LLC.File in questo prodotto:
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