Introduction: Pseudoxanthoma elasticum (PXE) is a hereditary disease that presents clinically as cutaneous, ocular and cardiovascular problems. The associated clinical signs are due to calcification of elastic fibres and blood vessels. The case we describe below involves a 24 year-old woman hospitalised for pseudoxanthoma elasticum and also diagnosed with asymptomatic renal nephrocalcinosis.
Observation: A diagnosis of pseudoxanthoma elasticum was suspected in this patient based upon yellowish papules on the head and neckline together with angioid streaks. This diagnosis was confirmed by histological examination of the skin biopsy sample. Levels of calcium and phosphorus in blood and urine were normal, as were the cardiovascular test results. Abdominal ultrasound revealed bilateral nephrocalcinosis.
Discussion: This case is original in terms of the association of pseudoxanthoma elasticum with nephrocalcinosis. There are in fact increasing reports of diffuse visceral calcifications in pseudoxanthoma elasticum and the literature contains reports of association with mammary and testicular calcifications. To our knowledge, associated nephrocalcinosis has only been described in two subjects in a series of 11 PXE patients. The question is whether this association was entirely fortuitous or if it in fact constitutes a rare manifestation of the disease.