Pseudoxanthoma Elasticum Treatment & Management

  • Author: L Frank Glass, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jun 23, 2011
 

Medical Care

Many of the pathologic changes associated with pseudoxanthoma elasticum (PXE) are irreversible, but prophylactic measures can be undertaken to minimize the disease course.

Cutaneous lesions

The redundant sagging folds of skin that present late in the course of pseudoxanthoma elasticum can be corrected by surgical excision if the patient desires, but delayed healing and scarring have been reported secondary to transepidermal extrusion of calcium.[30] Collagen and autologous fat injections may be options for the treatment of mental creases.[31]

Cardiovascular lesions

Diet and exercise are the main methods to minimize the extent of cardiovascular disease. Elevated serum lipid levels and hypertension aggravate the disease course and should initially be treated by lifestyle modifications, followed by drug therapy if necessary. Intermittent claudication is best managed by weight reduction and an exercise program to stimulate collateral blood vessel development. Pentoxifylline has been used but should be done so with extreme caution due to increased risk of hemorrhage.

Signs and symptoms of GI hemorrhage, such as melena or frank blood, must be closely monitored. Aspirin, antiplatelet agents, and nonsteroidal anti-inflammatory drugs (NSAIDs) should be avoided if possible. GI hemorrhage may be managed by hospitalization, iron supplements, blood transfusions, endoscopic treatment, or surgery with partial gastrectomy if necessary.

Patients are advised to stop tobacco use, as tobacco has been shown to aggravate the disease course.

Ocular lesions

Retinal hemorrhages are preceded by subretinal membrane formation, which can be detected by the use of an Amsler grid. Changes can be confirmed by intravenous fluorescein angiography, and prompt treatment can help minimize visual loss.

Intravitreal antivascular endothelia growth factor (VEGF) treatment, such as bevacizumab, appears promising in the management of choroidal neovascularization.[32, 33]

Photodynamic therapy and intravitreal triamcinolone may also be beneficial in treating ocular complications.[33]

Vitamins A, C, and E and zinc supplements may reduce the risk of hemorrhage.

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Consultations

All patients with pseudoxanthoma elasticum should be monitored on a regular basis by an ophthalmologist.

GI hemorrhages should be referred to a gastroenterologist, and cardiovascular manifestations are best managed by a cardiologist.

If pulmonary, urinary tract, or cerebral involvement is present, appropriate referrals should be made.

Patients and their families should receive genetic counseling. Current evidence suggests that the inheritance pattern in pseudoxanthoma elasticum is autosomal recessive. Recurrence risks in sporadic cases are, therefore, generally low. The Medscape Genomic Medicine Resource Center may be of interest.

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Diet

Excessive dietary calcium consumption should be avoided in childhood and adolescence because a correlation of severity of pseudoxanthoma elasticum with high calcium intake has been suggested.

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Activity

Patients should avoid heavy lifting, straining, and activities that may predispose them to head trauma, which increases the risk of retinal hemorrhage. Patients with pseudoxanthoma elasticum should avoid strenuous weight lifting and contact sports.

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Contributor Information and Disclosures
Author

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 and American Society of Dermatopathology

Disclosure: Nothing to disclose.

Coauthor(s)

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, University of South Florida College of Medicine

Disclosure: Dermik Honoraria Speaking and teaching; Amgen Honoraria Speaking and teaching; Graceway Pharmaceuticals Honoraria Speaking and teaching; Abbott Honoraria Speaking and teaching

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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: Amgen/Pfizer Honoraria Consulting; Centocor/Janssen Honoraria Consulting; DermiPsor Honoraria Consulting; GlaxoSmithKline Honoraria Consulting; HelixBioMedix Honoraria Consulting; Novartis Honoraria Consulting; Ranbaxy Lectures; Can-Fite Biopharma Honoraria Consulting; DermaGenoma Honoraria Consulting; Biosynexus Honoraria Consulting

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, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

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

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

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

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine 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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