LAUSR

Received on 1 February 2016; accepted for publication 8 February 2016. Pseudoxanthoma Elasticum (PXE) is a rare, inherited (autosomal recessive) disease with a prevalence of 1 in 25,000-100,000. It is a multisystem disorder caused by mutations in the ABCC6-gene affecting the skin, eyes, and vessels. It is characterized by elastic fibre mineralization and fragmentation, resulting in yellowish skin plaques with cobblestone appearance (figure A-B) and slack skin. The characteristic ophthalmologic findings are angioid streaks, subretinal neovascularization, and haemorrhages resulting in impaired vision. The cardiovascular issues include accelerated atherosclerosis, hypertension and valvular disease. The present case presents a 65-year-old female PXE patient. Two years previously, she had experienced an episode of amaurosis fugax on the right eye. The patient was a smoker, without a family history of cardiac disease. The LDL cholesterol level was 3.6 (mmol/l) and the ECG was normal. Upon examination the patient had significantly different blood pressures on her upper limbs (left 170/80 mmHg, A stalactite in the aorta. Abnormal calcification in a patient with pseudoxanthoma elasticum