Pseudoxanthoma elasticum

Published on 16/03/2015 by admin

Filed under Dermatology

Last modified 22/04/2025

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Pseudoxanthoma elasticum

Kenneth H. Neldner and Mark G. Lebwohl

Evidence Levels:  A Double-blind study  B Clinical trial ≥ 20 subjects  C Clinical trial < 20 subjects  D Series ≥ 5 subjects  E Anecdotal case reports

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Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder causing abnormal calcification of the elastic fibers in the skin, retina, and cardiovascular system. The major clinical features include slightly thickened, leather-like skin lesions most commonly seen in flexural skin, retinal angioid streaks, and hemorrhages, with central vision loss. Cardiovascular problems are less common, intermittent claudication in the lower extremities being the most common finding. Gastrointestinal bleeding is reported in about 10% of patients, which may also be due to non-PXE related factors. The prevalence of PXE in the population is approximately 1 : 70 000. For unknown reasons there is an approximately 2 : 1 predominance in females.

The PXE gene(s) is located on chromosome 16p13.1 and a specific gene(s) has been identified in the ABCC6 group of genes.

Management strategy

Establishing the diagnosis of PXE may be difficult during the early stages of the disorder. The initial clinical signs appear most commonly during the early teenage years in flexural skin sites on the neck, axillae, antecubital fossae, and groin, as variably sized patches of slightly thickened, leathery-looking skin. The diagnosis is often missed during these early years. Larger patches gradually develop with age. Angioid streaks in the retina usually appear later, beginning in the late teens or early 20s. Frank retinal hemorrhages begin most commonly in the fifth decade, causing central vision loss. Cardiovascular changes are rarely noted in children, although rare cases have been reported. A heart healthy lifestyle including low cholesterol diet, aerobic exercises, and avoidance of smoking should be encouraged. Because of the bleeding diathesis in PXE, patients should be advised to avoid aspirin and other blood thinners unless essential. There is some evidence that increased dietary calcium results in more rapid progression of the disease. Therefore, patients should be encouraged to avoid calcium supplementation and excessive ingestion of milk products. An interdisciplinary approach involving dermatologists, retina specialists, and cardiologists is ideal.

Specific investigations

The tests are expensive and rarely essential to confirm the diagnosis.

First-line therapies

image Thorough discussion of PXE with the patient and family, stressing the importance of lifelong follow-up and potential complications  
image Attention to current PXE medical literature for new therapies  
image Good nutrition; avoidance of trans fats; dietary calcium intake based on patient age and the current recommended dietary intake B
image Regular exercise program, with care to avoid sports with potential for head or eye injury B
image Vigorous control of hypertension and abnormal lipid profiles C
image Avoid long-term use of anticoagulants (gastrintestinal bleeding) C
image Retinal referral and follow-up on regular basis with a retinal specialist familiar with PXE. If early or threatened retinal hemorrhages, check for possible treatment with bevacizumab (Avastin) or ranibizumab (Lucentis) C

Third-line therapies

image Referral to cosmetic surgeon for removal of objectionable lesions if desired by patient for cosmetic reasons B
image Observe pregnant women more carefully. Incidence of gastrointestinal hemorrhage is questionably increased during pregnancy C
image Encourage the patient and their family to follow the medical literature available on PXE at various computer sites. Provide information on joining one or both PXE support groups: National Association for PXE (NAPE) and PXE International. Check the internet for websites and details on updates regarding new therapies  
image Sevelamer hydrochloride 800 mg three times daily A
image Increase in dietary magnesium E

Other therapies

There are several important new studies under way that could have significant long-term benefits in the management of PXE if they prove successful. A brief list is presented below.

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