Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

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Synonyms: PXE-like syndrome with retinitis pigmentosa

A rare genetic dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck chest and/or flexural areas associated with loose redundant sagging skin on trunk and upper limbs and retinitis pigmentosa in the absence of clotting abnormalities. Patients present reduced night and peripheral vision as well as optic nerve pallor retinal pigment epithelium loss attenuated retinal vessels and/or black pigment intra-retinal clumps.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa?

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