Pseudoxanthoma Elasticum: A Systemic Disorder of Elastic Tissue Diagnosed by Skin-A Case Report

Pseudoxanthoma elasticum (PXE) is a hereditary syndrome mainly involving the skin, eyes and cardiovascular system. We report on a female patient presenting with cobblestone-like yellowish papules over her neck as the initial diagnostic clue to PXE. A skin biopsy specimen revealed fragmentation and calcification of the elastic fibers in the middle and lower dermis. Angioid streaks of the retina were demonstrated by fluorescent angiography. Cardiac echo revealed a mitral valve prolapse. Gastroenteroscopy revealed esophagitis and erosive gastritis. The patient's sister presented with the same symptoms. These features were consistent with our clinical diagnosis of PXE.