Mesh term Pseudoxanthoma Elasticum
Browse to parent terms:Connective Tissue Diseases
Hemostatic Disorders
Skin Abnormalities
Skin Diseases, Genetic
Description
An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.Search for this term in our Faculty Database
View this term at the NCBI website
