Background

Pseudoxanthoma elasticum (PXE) is an inherited systemic disease characterized by changes in the elastic tissue of the skin. Pseudoxanthoma elasticum mainly affects the skin, eyes, heart, and gastrointestinal (GI) system.

The cutaneous and ocular findings of pseudoxanthoma elasticum are referred to as Grönblad-Strandberg syndrome. The cutaneous changes in pseudoxanthoma elasticum are distributed in the intertriginous areas of the body, such as the flexural regions of the extremities, in the folds of the skin at the sides of the neck, the cubital and popliteal fossa, the axilla, in the creases of the groin, and periumbilical area. Typical lesions are described as yellow waxy papules associated with loose and thickened skin. Pseudoxanthoma elasticum may be inherited through autosomal-dominant or autosomal-recessive patterns.

Other systemic findings in pseudoxanthoma elasticum include: intracranial aneurysms, claudication, hypertension, cerebrovascular accidents, cerebral ischemia, myocardial infarction, and GI hemorrhage.

Pathophysiology

The lesions in pseudoxanthoma elasticum are characterized by increased amounts of elastic tissue that have the tendency to become calcified. There has been controversy on the nature of the elastic tissue and whether the elastic tissue is abnormal from the time of synthesis or normal from its production with subsequent degeneration.

The reason elastic fibers become calcified in pseudoxanthoma elasticum remains unknown. Investigators have found polyanions within elastic fibers in both clinically affected and nonaffected dermis by using histochemical and electron microscopy techniques. This polyanionic material may explain the increased affinity of elastic fibers for calcium and may be a factor in the pathogenesis of the disease.

Frequency

United States

The reported prevalence of pseudoxanthoma elasticum is 1 in 160,000 births.

Mortality/Morbidity

Patients with pseudoxanthoma elasticum are at risk for loss of central vision, subarachnoid hemorrhage, severe GI hemorrhage, chronic peripheral occlusive disease, and cerebrovascular insufficiency. Subarachnoid hemorrhage has been a major cause of death.

Sex

Females are affected with pseudoxanthoma elasticum twice as often as males.

Age

Patients with pseudoxanthoma elasticum usually are diagnosed in the third to fourth decades of life.

Clinical Presentation

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Author

Andrew A Dahl, MD, FACS Assistant Professor of Surgery (Ophthalmology), New York College of Medicine (NYCOM); Director of Residency Ophthalmology Training, The Institute for Family Health and Mid-Hudson Family Practice Residency Program; Staff Ophthalmologist, Telluride Medical Center

Andrew A Dahl, MD, FACS is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, American Intraocular Lens Society, American Medical Association, American Society of Cataract and Refractive Surgery, Contact Lens Association of Ophthalmologists, Medical Society of the State of New York, New York State Ophthalmological Society, Outpatient Ophthalmic Surgery Society

Disclosure: Nothing to disclose.

Coauthor(s)

Diego Calonje, MD Consulting Staff, Department of Ophthalmology, Private Practice

Disclosure: Nothing to disclose.

Sherif M El-Harazi, MD, MPH Private Practice in Ophthalmology

Sherif M El-Harazi, MD, MPH is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Cataract and Refractive Surgery, International Society of Refractive Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Steve Charles, MD Founder and CEO of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine

Disclosure: Received royalty and consulting fees for: Alcon Laboratories.

Chief Editor

Hampton Roy, Sr, MD † Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

V Al Pakalnis, MD, PhD Professor of Ophthalmology, University of South Carolina School of Medicine; Chief of Ophthalmology, Dorn Veterans Affairs Medical Center

V Al Pakalnis, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, South Carolina Medical Association

Disclosure: Nothing to disclose.

Sections Ophthalmologic Manifestations of Pseudoxanthoma Elasticum
Overview
Presentation
- History
- Physical
- Causes
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DDx
Workup
Treatment
- Medical Care
- Consultations
- Diet
- Activity
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Follow-up
References

Ophthalmologic Manifestations of Pseudoxanthoma Elasticum

Background

Pathophysiology

Epidemiology

Frequency

Mortality/Morbidity

Sex

Age

References

Tables

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