Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort

Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort

The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc).

This national french cohort is intended to improve our knowledge on the PXE disease. The study of phenotypic expression of the diseases is focused on cutaneous, opthalmologic and vascular tissues. All investigations are included in a yearly follow-up for these patients and collected in a database.

Plasma are also collected for all patients and stored in our clinical research biological center in Angers, including genetic (DNA) material extracted from diagnostic skin biopsy. French Ministry of Teaching and Research Authorisation number for the PXE collection is AC 2008 871. Declarative number is DC 2008 870.

Inclusion Criteria:

• Patients with PXE disease
• Informed consent obtained
• Patient affiliated to Health care system (french social security)

Exclusion Criteria:

• No informed consent
• No affiliation to a Health care system