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F1000Res ; 9: 9, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32742638

RESUMEN

Pseudoxanthoma elasticum (PXE) is a rare inherited disorder, characterised by a progressive mineralization and fragmentation of elastic fibres of the skin, retina and cardiovascular system. At an initial stage, the skin usually exhibits distinctive lesions and subsequently extra-dermal manifestations. The diagnosis is based on clinical manifestations, histological analysis of the lesions and genetic analysis. This is a case report of a 12-year-old child complaining of painless, mildly itchy yellow papules in the cervical region with 1 year of evolution. PXE is currently an incurable disease and has a favourable prognosis when cardiovascular and retinal complications are prevented and monitored.


Asunto(s)
Seudoxantoma Elástico , Biopsia , Sistema Cardiovascular/patología , Niño , Femenino , Humanos , Seudoxantoma Elástico/diagnóstico , Seudoxantoma Elástico/genética , Retina/patología , Piel/patología , Ultrasonografía
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