Article
Multidisciplinary management of patients affected with pseudoxanthoma elasticum
Orvosi hetilap - 1 May 2022
Farkas Klára, Kiss Norbert, Szabó Viktória, Resch Miklós, Vámos Rita, Borbándy Ágnes, Nagy Anikó, Apor Astrid, Arányi Tamás, Szeri Flóra, Wikonkál Norbert, Nagy Zoltán, Merkely Béla, Medvecz Márta
Abstract excerpt
Pseudoxanthoma elasticum (PXE, OMIM # 264800) is an autosomal recessive, multisystemic disorder, associated with mutations of the ABCC6 gene. Ectopic mineralization is in the background of the clinical manifestations of the disease. Calcium-salt crystals are deposited primarily in the skin, in the Bruch membrane of the eyes, and in the vascular endothelium. Thus, in addition to the skin lesions, visual impairment...
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