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Pseudoxanthoma Elasticum

By

Frank Pessler

, MD, PhD, Hannover, Germany

Last full review/revision Oct 2020| Content last modified Oct 2020
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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. Diagnosis is clinical. There is no specific treatment, but intravitreal injections of angiogenesis-blocking antibodies may be given for angioid streaks.

Pseudoxanthoma elasticum is caused by mutations in the ABCC6 gene that are inherited in both autosomal dominant Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more and autosomal recessive Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more 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 myocardial infarction

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

Diagnosis of Pseudoxanthoma Elasticum

  • Clinical evaluation

Diagnosis of pseudoxanthoma elasticum is based on clinical and histologic findings.

Laboratory and imaging studies are done for associated conditions (eg, complete blood count, echocardiography, head CT).

Treatment of Pseudoxanthoma Elasticum

  • Angiogenesis-blocking antibodies for angioid streaks

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 nonsteroidal anti-inflammatory drugs, and anticoagulants. Blood lipid levels should be well controlled Elevated LDL cholesterol treatment Dyslipidemia is elevation of plasma cholesterol, triglycerides (TGs), or both, or a low high-density lipoprotein cholesterol level that contributes to the development of atherosclerosis. Causes... read more Elevated LDL cholesterol treatment to reduce risk of premature atherosclerosis and associated vascular complications. 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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