pediatrics
Pseudoxanthoma Elasticum
Introduction
Pseudoxanthoma elasticum is a rare genetic disorder characterized by calcification of the elastic fibers of the skin, retina, and cardiovascular system. Diagnosis is clinical. There is no specific treatment, but intravitreal injections of angiogenesis-blocking antibodies may be given for angioid streaks. gene that are inherited in both Autosomal Dominant and Characteristic cutaneous papular lesions begin in childhood and are primarily of cosmetic concern. They appear as small yellowish papules that typically occur on the neck and axillae and flexural surfaces. Elastic tissues become calcified and fragmented, leading to disruption of the involved organ systems: Ocular system: Angioid streaks of the retina, retinal hemorrhages, and gradual vision loss Cardiovascular system: Premature atherosclerosis with subsequent intermittent claudication, hypertension, angina, and myocardial infarction Vascular fragility: Gastrointestinal hemorrhage and small-vessel bleeding with subsequent anemia 