A case of pseudoxanthoma elasticum with proliferative diabetic retinopathy

A case of pseudoxanthoma elasticum with proliferative diabetic retinopathy

BACKGROUND To report the case of a patient with pseudoxanthoma elasticum (PXE) and proliferative diabetic retinopathy (PDR), and discuss the relationship between PXE and diabetic retinopathy (DR). CASE PRESENTATION A 47-year-old man with PXE presented with angioid streaks and DR in both eyes, and bilateral panretinal photocoagulation was performed for treatment. Vitrectomy had previously been...

Pseudoxanthoma elasticum

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

Pseudoxanthoma Elasticum – Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum

BACKGROUND Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical data whether PXE patients actually are at high risk of developing pulmonary disorder. METHODS In a cross-secti...

Pseudoxanthoma elasticum with cerebrovascular accident.

A 65-year-old male presented with right hemiparesis and skin lesions. On examination, the patient had multiple, discrete, skin-colored papules on the neck and upper chest with wrinkling of the skin. The lateral part of the trunk and medial aspect of both upper arms showed atrophic plaques. A computerized tomography scan of the head showed dilatation of the basilar artery with a frontoparietal i...