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Pseudoxanthoma Elasticum.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Jun 5 [updated 2012 Jun 14].

Author information

1
PXE International, Washington, DC
2
Department of Dermatology, Rhode Island Hospital and Hasbro Children's Hospital, Warren Alpert Medical School, Brown University, Providence, Rhode Island

Excerpt

CLINICAL CHARACTERISTICS:

Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and the cardiovascular and gastrointestinal systems. Individuals most commonly present with papules in the skin and/or with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage. Rarely, individuals may present with vascular signs and symptoms, such as gastrointestinal bleeding, angina, or intermittent claudication. The most frequent cause of morbidity and disability in PXE is reduced vision from macular hemorrhage and disciform scarring of the macula. Most affected individuals live a normal life span.

DIAGNOSIS/TESTING:

The diagnosis of PXE is suspected in individuals with characteristic skin and ocular findings and is established by histologic findings on biopsy of lesional skin. ABCC6 (formerly known as MRP6), which encodes the ATP-binding cassette protein multidrug resistance-associated protein 6, is the only gene known to be associated with PXE. Molecular genetic testing detects a pathogenic variant in one allele in almost all affected individuals and in both alleles in close to 90%.

MANAGEMENT:

Treatment of manifestations: Coordinated care by a multidisciplinary team (dermatologist, primary care physician, ophthalmologist, cardiologist, vascular surgeon, plastic surgeon, genetics professional, nutritionist) depending on clinical manifestations; contact with support groups for accurate information and to reduce the sense of isolation; intraocular injection of anti-angiogenic drugs for the treatment of macular degeneration; surgical or radiologic intervention as indicated for gastrointestinal bleeding or severe peripheral vascular disease. Surveillance: Routine examination by an ophthalmologist with expertise in retinal disease; routine physical examination with special attention to the cardiovascular system; monitoring for the development of black tarry stool; periodic monitoring of serum lipid concentrations. Agents/circumstances to avoid: Contact sports or racquet sports without appropriate eye and head protection; aspirin and nonsteroidal anti-inflammatory medications because of gastrointestinal bleeding risk. Pregnancy management: Retinal examination during pregnancy and prompt attention to any visual symptoms are advised.

GENETIC COUNSELING:

PXE is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the chance of his/her being a carrier is 2/3. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk is possible once the pathogenic variants have been identified in the family.

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