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Pseudoxanthoma elasticum |
Gronblad-Strandberg Syndrome; PXE - Pseudoxanthoma elasticum |
Pseudoxanthoma Elasticum (PXE) is a genetic disease that is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16. PXE causes mineralization of some elastic fibers. The most common problems arise in the skin and eyes. Usually, PXE affects skin first. Small, yellowish papular lesions form and cutaneous laxity mainly affects the neck, axillae (armpit), groin, and flexural creases (Gheduzzi et al. 2003). Skin may become lax and redundant. PXE first affects ...
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Pseudoxanthoma elasticum Clinical Trials
- Genetic Analysis of Patients With Pseudoxanthoma Elasticum
ClinicalTrials.gov Identifier: NCT00341419 - Recruiting
Pseudoxanthoma Elasticum; PXE
- Evolution of Visual Impairment During Pseudoxanthoma Elasticum
ClinicalTrials.gov Identifier: NCT00555113 - Completed
Pseudoxanthoma Elasticum
- Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of Age-Related Macular Degeneration (AMD) and Other Related Maculopathy
ClinicalTrials.gov Identifier: NCT00470977 - Recruiting
Coats’ Disease; Idiopathic Perifoveal Telangiectasia; Retinal Angiomatous Proliferation; Polypoidal Vasculopathy; Pseudoxanthoma Elasticum; Pathological Myopia; Multi-Focal Choroiditis; Rubeosis Iridis
Resources
- Genetics Home Reference: Pseudoxanthoma elasticum (Genetics Home Reference)
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