Pseudoxanthoma Elasticum and Calcinosis Cutis

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

Calcinosis cutis.

1 of 2 DESCRIPTION An 87-year-old woman with a history of hypertension, atrial fi brillation, and mixed connective tissue disease was admitted to hospital because of heart failure. Besides clinical signs of ventricular dysfunction, physical examination showed painless, subcutaneous nodules that had developed during the past 10 years on her left elbow ( fi gure 1A ) and knees ( fi gure 1B , righ...

Calcinosis Cutis

Periumbilical perforating pseudoxanthoma elasticum.

A 58-year-old, gravida 6, obese woman presented with a pruritic yellowish plaque around the umbilicus, which first appeared about 3 years ago. She also had flat yellow papules on the axilla and neck. After a burn from a heating device, a few perforating papules and a violaceous hue occurred on the plaque. Histological examination revealed pathological elastic fibers with a keratotic plug and pe...