Article
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2018
Bertamino Marta, Severino Mariasavina, Grossi Alice, Rusmini Marta, Tortora Domenico, Gandolfo Carlo, Pederzoli Silvia, Malattia Clara, Picco Paolo, Striano Pasquale, Ceccherini Isabella, Di Rocco Maja
Abstract excerpt
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults...
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