Pseudoxanthoma elasticum: Report of two cases

Abstract

Pseudoxanthoma elasticum (PXE) is an inherited multisystem disorder characterized by pathological calcification of the elastic connective tissue. PXE is a rare disease with an autosomal dominant inheritance pattern in 90% of the cases. Females are more commonly affected than males [2]. PXE is caused by mutations in the ABCC6 (ATP-binding cassette sub-family C member 6) gene that encodes a transmembrane ATP binding efflux transporter. Clinical manifestation occurs in skin, eyes, mucosa, gastrointestinal tract and the arteries. Asymptomatic skin manifestations, which are often the first clinical signs of PXE. Ophthalmological features of PXE include primarily peau d'orange, comet lesions, angioid streaks, choroidal neovascularization (CNV), hemorrhages. The patients of PXE can also develop premature atherosclerosis with early acute myocardial infarcts and cerebrovascular accidents. We reported two female cases of PXE, emphasizing its main clinical aspects and highlighting the importance of early diagnosis of the disease for an adequate therapeutical management of associated complications.