Pseudoxanthoma elasticum (PXE): 15 casi clinici e follow up cardiologico

Carbone, Antonio and Giustini , Sandra and Strano, Stefano and Divona, Luigina and Miraglia, Emanuele and Bruni, C. and Calvieri, Stefano (2011) Pseudoxanthoma elasticum (PXE): 15 casi clinici e follow up cardiologico. Dermatologia clinica, 31 (unico). pp. 9-12. ISSN 2037-6685

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Abstract

Pseudoxanthoma elasticum (PXE; synonym: Gronblad-Strandberg syndrome) is a rare, inherited, multisystem disorder primarily affecting the skin, eyes, and cardiovascular system. It is characterised by progressive calcification and degeneration of elastic fibres. The prevalence is estimated at 1 in 25.000-100.000 with an almost 2:1 female preponderance (3). The genetic defect has been mapped to the ABCC6 gene on chromosome 16p13.1.2. ABCC6 encodes multidrug resistance associated protein 6 (MRP6), which belongs to the ABC (ATP Binding Cassette) transmembrane transporter family of proteins. Its exact biological function is not clear yet but it may play a role in cellular detoxification. The population in the present study consisted of 15 patients (11 female; 4 male; age range 25-70 years) that had been referred to the Department of Dermatology, Multidisciplinary Centre of Rare Diseases at the Umberto I Policlinic in Rome, Italy, between 2000 and 2009. All patients in this study were diagnosed according to the criteria for the definitive diagnosis of PXE (described above). All patients presented skin and ocular lesions typical of PXE.

Item Type:	Article
Uncontrolled Keywords:	Pseudoxanthoma elasticum, elastic fibres, ABCC6 gene
Subjects:	600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) > 616.5 Malattie del tegumento, dei peli, delle unghie
Depositing User:	Matteo Viola
Date Deposited:	25 Mar 2013 10:34
Last Modified:	16 May 2013 15:58
URI:	http://eprints.bice.rm.cnr.it/id/eprint/4748

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