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Pseudoxanthoma Elasticum

By David D. Sherry, MD, University of Pennsylvania;The Children's Hospital of Philadelphia ; Frank Pessler, MD, PhD, Technische Universität Dresden, Germany

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Pseudoxanthoma elasticum is a rare genetic disorder characterized by calcification of the elastic fibers of the skin, retina, and cardiovascular system.

Pseudoxanthoma elasticum is caused by mutations in the ABCC6 gene that are inherited in both autosomal dominant and recessive forms. The ABCC6 gene product is a transmembrane transporter protein that probably plays roles in cellular detoxification. 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 MI

  • Vascular fragility: GI hemorrhage and small-vessel bleeding with subsequent anemia

Diagnosis is based on clinical and histologic findings. Laboratory and imaging studies are done for associated conditions (eg, CBC, echocardiography, head CT).

Treatment of retinal angioid streaks with intravitreal injections of angiogenesis-blocking antibodies (eg, bevacizumab) shows promise. Otherwise, there is no specific treatment, and the aim is to prevent complications. People should avoid drugs that may cause stomach or intestinal bleeding, such as aspirin, other NSAIDs, and anticoagulants. People with pseudoxanthoma elasticum should avoid contact sports because of the risk of injury to the eye. Complications may limit life span.

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