Pseudoxanthoma Elasticum Presenting with Blindness

Pseudoxanthoma elasticum presenting with myocardial infarction.

A 31 year old man presented with an anterior myocardial infarction. He had a history of recurrent gastrointestinal bleeding of obscure cause since childhood and peripheral vascular disease. A clinical diagnosis of the type 1 dominant form of pseudoxanthoma elasticum was supported by histological data from skin biopsy.

Acquired pseudoxanthoma elasticum presenting after liver transplantation.

BACKGROUND Pseudoxanthoma elasticum (PXE) is thought to be a metabolic disorder resulting from mutations in the gene encoding the cellular transporter, ABCC6, which is primarily expressed in liver and kidney. We encountered 3 patients who developed clinical and histopathological evidence of PXE after liver transplantation, suggesting that PXE could have been acquired from the transplanted organ...

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight fem...

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum with cerebrovascular accident.

A 65-year-old male presented with right hemiparesis and skin lesions. On examination, the patient had multiple, discrete, skin-colored papules on the neck and upper chest with wrinkling of the skin. The lateral part of the trunk and medial aspect of both upper arms showed atrophic plaques. A computerized tomography scan of the head showed dilatation of the basilar artery with a frontoparietal i...