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
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... read more 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.