Definition: 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.
in titles & translations use diacritic: Gr+Šnblad
Other names Gronblad-Strandberg Syndrome; Syndrome, Gronblad-Strandberg; Gronblad Strandberg Syndrome; Pseudoxanthoma Elasticum, Incomplete; Pseudoxanthoma Elasticum, Forme Fruste; Pseudoxanthoma Elasticum, Autosomal Dominant
