PSEUDOXANTHOMA ELASTICUM has been described as a systemic disease that affects the skin, the eyes, and the blood vessels. That it may directly involve the heart and cause significant valvular disease is not so well known. Histologic changes in the endocardium and heart valves have been described'-" but valvular heart disease has not been a clinical problem in these cases. After studying the fol...

Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight fem...

Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of e...

INTRODUCTION Angioid streaks are breaks in Bruch's membrane that may be associated, among others, with pseudoxanthoma elasticum. Its most common complication is the development of subretinal neovascular membranes (SRNVM) and the decreased vision this entails. CASE REPORT A 28 year old woman with angioid streaks and SRNVM in the left eye, who received 3 injections of intravitreal bevacizumab, ...

Pseudoxanthoma elasticum complicated by angioid streaks and various other vascular problems was described. The patient was a 69-year-old female and was found to be hypertensive with the left ventricular hypertrophy. Skin biopsies from bilateral sides of the neck disclosed a typical lesion indicating pseudoxanthoma elasticum. Subsequently, several complications were sorted out and hypertension h...

Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.

purpose: to present a case of pseudoxanthoma elasticum (pxe) with ocular involvement and visual loss. case report: a 36 year old male presented with severe visual loss since 2 years ago. on funduscopy peau d’orange appearance and angioid streaks were evident. the diagnosis of pxe was confirmed by skin biopsy of papular lesions on the neck. conclusion:  ocular findings may be helpful in the diag...

Angioid streaks were observed in 21 of 242 patients with homozygous sickle cell disease. Two morphological types were observed. There is no evidence that angioid streaks in Jamaican patients are related to pseudoxanthoma elasticum.