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Pseudoxanthoma Elasticum

  • Author: Neil Alan Fenske, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Oct 20, 2015
 

Background

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by elastorrhexia, or progressive calcification and fragmentation, of elastic fibers primarily affecting the skin, the retina, and the cardiovascular system.[1, 2, 3, 4, 5] The condition was first described by the French dermatologist Rigal in 1881[6] and later named by Darier in 1896, who sought to differentiate PXE from common xanthomas.[7] Cutaneous lesions typically begin in childhood or early adolescence, but due to their asymptomatic nature, diagnosis is delayed by an average of 9 years.[8]

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Pathophysiology

Pseudoxanthoma elasticum is associated with mutations in the ABCC6 gene, which encodes an ATP-binding cassette transporter protein recently localized to the mitochondria-associated membrane (MAM).[9] The gene is expressed predominantly in the liver and kidney; however, pseudoxanthoma elasticum most commonly involves the elastic fibers of the mid and deep reticular dermis of skin, the Bruch membrane of the eye, and the blood vessels. The disease’s manifestations are primarily due to an underlying metabolic disorder.

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Epidemiology

US frequency

Pseudoxanthoma elasticum has an estimated prevalence of 1 case per 25,000-100,000.[10] Current research supports a common (probably exclusive) autosomal recessive inheritance of pseudoxanthoma elasticum.

Race

Pseudoxanthoma elasticum has been described in persons of all races. A higher prevalence has been reported in certain populations, including South African Afrikaners, likely due to a founder effect.[11]

Sex

The female-to-male ratio is 2:1.[10]

Age

The average age of onset is 13 years; however, ages can vary between infancy and the seventh decade of life or older, with a peak in the number of new cases from ages 10-15 years.

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Contributor Information and Disclosures
Author

Neil Alan Fenske, MD Chairman, Department of Dermatology and Cutaneous Surgery, Professor, Department of Dermatology and Cutaneous Surgery, Department of Pathology and Cell Biology, Department of Oncologic Sciences, Medical Director, Health Cosmetic and Laser Center, University of South Florida College of Medicine

Disclosure: Received none from Abbvie for speaking and teaching; Received none from Valeant for speaking and teaching.

Coauthor(s)

L Frank Glass, MD Chief of Dermatopathology, Associate Professor, Departments of Internal Medicine and Pathology, University of South Florida College of Medicine

L Frank Glass, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology

Disclosure: Nothing to disclose.

Naomi G Johansen, MD Resident Physician, Department of Dermatology and Cutaneous Surgery, University of South Florida College of Medicine

Disclosure: Nothing to disclose.

Jean Pierre Galliani, MD Chief Resident, Department of Dermatology, University of South Florida College of Medicine

Jean Pierre Galliani, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Sheila Jalalat, MD Resident Physician, Department of Dermatology and Cutaneous Surgery, University of South Florida Morsani College of Medicine

Sheila Jalalat, MD is a member of the following medical societies: American College of Physicians, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Christen M Mowad, MD Professor, Department of Dermatology, Geisinger Medical Center

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, Noah Worcester Dermatological Society, Pennsylvania Academy of Dermatology, American Academy of Dermatology, Phi Beta Kappa

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Mark G Lebwohl, MD Chairman, Department of Dermatology, Mount Sinai School of Medicine

Mark G Lebwohl, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Received none from Amgen for consultant & investigator; Received none from Novartis for consultant & investigator; Received none from Pfizer for consultant & investigator; Received none from Celgene Corporation for consultant & investigator; Received none from Clinuvel for consultant & investigator; Received none from Eli Lilly & Co. for consultant & investigator; Received none from Janssen Ortho Biotech for consultant & investigator; Received none from LEO Pharmaceuticals for consultant & inves.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.

References
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Classic cobblestone appearance with yellow papules and plaques on the lateral aspect of the neck.
Laxity and redundant skin folds in the axilla.
Flesh-colored reticulated plaques on the posterior neck.
Calcification and clumping of elastic fibers in pseudoxanthoma elasticum.
Aggregates of irregular calcified elastic fibers in the dermis.
Basophilic clusters in the mid and deep reticular dermis representing calcium deposition within elastic fibers in PXE.
 
 
 
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