Pseudoxanthoma Elasticum
A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels. [ ]
Term info
Pseudoxanthoma Elasticum
- Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
Disease or Syndrome
C0033847
C85036