Pseudoxanthoma elasticum: a review of the literature with a clinical case

Abstract

Pseudoxanthoma elasticum (Grönblad–Strandberg syndrome) is an inherited disease of an autosomal recessive type associated with a mutation in the ABCC6 gene, which causes a violation of the elastogenesis process. The disease is characterized by defects in the tissues of the skin, eyes and blood vessels. Skin lesions of Pseudoxanthoma elasticum represent small xanthomatous papules with tendency to be confluent; most frequently, they are located on the occipital skin, in axillary creases, on the lateral surfaces of the neck, and in skin deflection areas. The ocular involvement manifests as retinal angioid streaks on the fundus, representing the breaks in Bruch’s membrane, which often complicate by development of choroidal neovascularization. Timely diagnosis and early treatment of patients with active choroidal neovascularization caused by angioid streaks makes possible to stabilize the process and preserve visual functions.