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Comprehensive analysis of pseudoxanthoma elasticum: epidemiological, genetic, and clinical findings from the leading Italian center.

Italian journal of dermatology and venereology - 1 Aug 2024

Laghi Alessandro, Mandel Victor D, Zubba Ilaria, Franceschini Chiara, Demofonte Ilaria, Chello Camilla, Miraglia Emanuele, Ardigò Marco, Giustini Sandra

Abstract excerpt

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare genetic autosomal recessive metabolic disease characterized by progressive mineralization and fragmentation of elastic fibers from soft connective tissues. The objective of our study was to analyze the epidemiological, genetic, cutaneous, and extracutaneous clinical data from the largest Italian monocentric cohort of PXE patients. METHODS: We included all...

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PMID: 39069841
DOI: 10.23736/S2784-8671.24.07949-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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