eMedicine Specialties > Dermatology > Diseases of the Dermis

Pseudoxanthoma Elasticum: Treatment & Medication

Author: L Frank Glass, MD, Chief of Dermatopathology, Associate Professor, Departments of Internal Medicine and Pathology, University of South Florida College of Medicine
Coauthor(s): M Michelle (Shellie) Marks, MD, Staff Physician, Department of Dermatology, University of Alabama at Birmingham; Daniel F Smith, MD, Consulting Staff, Bressinck, Gibson, Parker, Fangster, Smith, and Bruyneel Dermatology; 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; Sujatha Tadicherla, MD, Resident, Department of Dermatology and Cutaneous Surgery, University of South Florida College of Medicine
Contributor Information and Disclosures

Updated: Nov 21, 2008

Treatment

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 sagging folds of skin that present late in the course of PXE can be easily corrected by surgical excision of redundant skin folds if the patient desires. Collagen30 and autologous fat injections may be options for mental crease treatment.
  • Cardiovascular lesions
    • Diet and exercise are the main methods to minimize the extent of cardiovascular disease. A diet low in lipids and calcium (600-1200 mg/d) is recommended. Elevated serum lipid levels and hypertension aggravate the disease course. Both of these related conditions should be controlled with diet and exercise first, followed by drug therapy if necessary. Intermittent claudication can be treated by weight reduction and an exercise program to stimulate collateral blood vessel development. Pentoxifylline may be used but with extreme caution of hemorrhage. Excessive dietary calcium consumption should be avoided in childhood and adolescence because a correlation of severity of PXE with high calcium intake has been suggested.
    • Signs and symptoms of gastrointestinal hemorrhage, such as melena or frank blood, must be monitored closely. Aspirin and nonsteroidal anti-inflammatory drugs should be avoided. Gastrointestinal hemorrhage may be managed by hospitalization, iron supplements, blood transfusions, endoscopic treatment, or surgery with partial gastrectomy if necessary.
    • If the murmur of mitral valve insufficiency is present, prophylactic antibiotics against bacterial endocarditis should be used before any dental procedure or surgery. Current recommendations are 2 g of amoxicillin 1 hour before the procedure.
    • Patients are advised to stop tobacco use. Tobacco has been shown to aggravate the disease course.
  • Ocular lesions
    • Retinal hemorrhages are preceded by subretinal membrane formation, which can be detected by an Amsler grid used regularly by the patient. A change can be confirmed by intravenous fluorescein angiography. This early detection allows for the use of laser coagulation to minimize vision loss.
    • Patients should avoid heavy lifting, straining, and head trauma, which increase the risk of retinal hemorrhage.
    • Adolescents should not participate in weight lifting or head-contact sports.
    • Vitamins A, C, and E and zinc supplements may reduce the risk of hemorrhage.
    • Interferon alpha-2a may be a potential treatment.

Consultations

  • All patients with pseudoxanthoma elasticum (PXE) should be monitored on a regular basis by an ophthalmologist. Funduscopy is recommended because eye changes may precede cutaneous signs.
  • Gastrointestinal 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 PXE is usually autosomal recessive. Recurrence risks in sporadic cases are, therefore, generally low. The Medscape Genomic Medicine Resource Center may be of interest.
  • Women with PXE rarely experience gastric or uterine bleeding and are more likely to develop perineal tears and abdominal striae. Pregnancy is otherwise well tolerated, except for an increase in the number of miscarriages in the first trimester. However, multiple pregnancies do aggravate the disease course.

Medication

The goals of pharmacotherapy for pseudoxanthoma elasticum (PXE) are to reduce morbidity and to prevent complications.

Hemorheologic agents

These agents are used for the symptomatic treatment of peripheral vascular disease.


Pentoxifylline (Trental)

May alter rheology of red blood cells, which, in turn, reduces blood viscosity. May be used but with extreme caution of hemorrhage.

Adult

400 mg PO tid with meals; may reduce frequency to bid if GI or CNS adverse effects occur

Pediatric

Not established

Coadministration with cimetidine or theophylline increases effect/toxic potential; increases effect of antihypertensives

Documented hypersensitivity; cerebral and/or retinal hemorrhage

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Caution in renal impairment

Antibiotics

Antibiotic prophylaxis is given to patients with murmur of mitral valve insufficiency prior to performing procedures that may cause bacterial endocarditis.


Amoxicillin

Interferes with synthesis of cell wall mucopeptides during active multiplication, resulting in bactericidal activity against susceptible bacteria.

Adult

2 g 1 h before procedure

Pediatric

50 mg/kg 1 h before procedure

Probenecid (Benemid) increases the effects of amoxicillin

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Adjust dose in renal impairment

More on Pseudoxanthoma Elasticum

Overview: Pseudoxanthoma Elasticum
Differential Diagnoses & Workup: Pseudoxanthoma Elasticum
Treatment & Medication: Pseudoxanthoma Elasticum
Follow-up: Pseudoxanthoma Elasticum
References
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References

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Further Reading

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Keywords

pseudoxanthoma elasticum, PXE, Grönbald-Strandberg syndrome, OMIM# 177850, OMIM# 264800, connective tissue disorder, calcification and fragmentation of elastic fibers, connective-tissue disorders

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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)

M Michelle (Shellie) Marks, MD, Staff Physician, Department of Dermatology, University of Alabama at Birmingham
Disclosure: Nothing to disclose.

Daniel F Smith, MD, Consulting Staff, Bressinck, Gibson, Parker, Fangster, Smith, and Bruyneel Dermatology
Daniel F Smith, MD is a member of the following medical societies: Alpha Omega Alpha, American Medical Association, and Arkansas Medical Society
Disclosure: Nothing to disclose.

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; Warner Chilcott Honoraria Speaking and teaching

Sujatha Tadicherla, MD, Resident, Department of Dermatology and Cutaneous Surgery, University of South Florida College of Medicine
Disclosure: Nothing to disclose.

Medical Editor

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: Abbott Laboratories Honoraria Consulting; Actelion Honoraria Consulting; Amgen Honoraria Consulting; Astellas Honoraria Consulting; Centocor Honoraria Consulting; DermiPsor Honoraria Consulting; Galderma  Consulting; Genentech Honoraria Consulting; Helix BioMedix Honoraria Consulting; Medicis Honoraria Investigator

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University 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.

Managing Editor

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.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine 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.

 
 
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