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.
978-1-60761-180-6
Hoarseness
Hyalinosis cutis et mucosae
Moniliform blepharosis
Urbach-Wiethe disease
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/135131
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