Pseudoxanthoma elasticum

Abstract

A 21-year-old woman presented with a 2-year history of asymptomatic skin irregularity on her neck. On physical examination, there were multiple pinhead-sized yellowish flat-topped waxy papules on the anterolateral aspects of the neck (figure A). Direct ophthalmoscopy showed prominent angioid streaks (figure B, green arrowheads) with nasal drusen on the right eye (figure B, white arrowheads) and less obvious ones on the left eye. A biopsy sample from the skin of her neck showed a band of degenerated clumps of basophilic elastic fibres in the upper reticular dermis (figure C, green arrows) and Von Kossa stains were positive for calcium deposits within the degenerated elastic fibres (figure D). The condition is known as pseudoxanthoma elasticum resulting from fragmentation of elastic fibres in the connective tissue of the skin, the brush membrane of the retina, gastrointestinal and cardiovascular systems. Two-dimensional echocardiography was normal. There was no evidence of gastrointestinal haemorrhage and the urinalysis and lipid profiles were all within normal limits. Physicians should be aware of the associated systemic involvement of pseudoxanthoma elasticum. Timely diagnosis of the disease might minimise the devastating ocular and cardiovascular complications of blindness and intracranial aneurysm rupture. A 21-year-old woman presented with a 2-year history of asymptomatic skin irregularity on her neck. On physical examination, there were multiple pinhead-sized yellowish flat-topped waxy papules on the anterolateral aspects of the neck (figure A). Direct ophthalmoscopy showed prominent angioid streaks (figure B, green arrowheads) with nasal drusen on the right eye (figure B, white arrowheads) and less obvious ones on the left eye. A biopsy sample from the skin of her neck showed a band of degenerated clumps of basophilic elastic fibres in the upper reticular dermis (figure C, green arrows) and Von Kossa stains were positive for calcium deposits within the degenerated elastic fibres (figure D). The condition is known as pseudoxanthoma elasticum resulting from fragmentation of elastic fibres in the connective tissue of the skin, the brush membrane of the retina, gastrointestinal and cardiovascular systems. Two-dimensional echocardiography was normal. There was no evidence of gastrointestinal haemorrhage and the urinalysis and lipid profiles were all within normal limits. Physicians should be aware of the associated systemic involvement of pseudoxanthoma elasticum. Timely diagnosis of the disease might minimise the devastating ocular and cardiovascular complications of blindness and intracranial aneurysm rupture.