Pseudoxanthoma elasticum
ORPHA:758· ICD-10 Q82.8
Definition
A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive
- Age of onset
- All ages