eMedicine Specialties > Dermatology > Diseases of the Dermis

Pseudoxanthoma Elasticum: Differential Diagnoses & Workup

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

Differential Diagnoses

Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome)
Ehlers-Danlos Syndrome
Elastosis Perforans Serpiginosum

Other Problems to Be Considered

Disseminated dermatofibroma lenticularis (Buschke-Ollendorff syndrome)
Localized acquired cutaneous pseudoxanthoma elasticum (PXE)
Long-term penicillamine therapy
Marfan syndrome
Severe actinic damage to the lateral part of the neck
Papular elastorrhexis
Perforating periumbilical PXE

Workup

Laboratory Studies

  • Perform a CBC count to screen for iron deficiency anemia from occult blood loss.
  • Perform a fecal occult blood test to screen for occult blood loss from the gastrointestinal hemorrhage.
  • Perform a urinalysis to screen for urinary tract hemorrhage.
  • Obtain serum lipid levels. Elevated serum lipid levels aggravate the disease course and should be treated.
  • Obtain calcium and phosphate levels. The serum calcium and phosphate levels are usually in the reference range in pseudoxanthoma elasticum (PXE), but hypercalcemia and hyperphosphatemia have been reported.

Imaging Studies

  • Echocardiography is indicated in pseudoxanthoma elasticum (PXE) patients who have a murmur of mitral valve insufficiency, anginal symptoms, or a personal or family history of coronary artery disease.
  • CT scanning of the head may be performed if the physical examination shows focal neurologic deficits or other signs of cerebral hemorrhage.
  • Radiography may show  soft tissue or large artery calcification.

Procedures

  • An ophthalmologic examination is essential to detect early signs of retinopathy, angioid streaks, and retinal hemorrhages. Laser treatment may spare vision in these pseudoxanthoma elasticum (PXE) patients.
  • Upper or lower endoscopy is indicated if the patient has hematemesis, occult blood in the stools, melena, or frank bleeding. Endoscopy allows for treatment as well as diagnosis and is more sensitive than upper gastrointestinal series and barium enema.
  • Ankle/brachial blood pressure using Doppler methods is useful in patients experiencing intermittent claudication or in patients with significantly diminished peripheral pulses to ensure adequate tissue perfusion.

Histologic Findings

On cutaneous hematoxylin-eosin stains, elastic fibers are basophilic because of the calcium deposition. The fibers are fragmented, swollen, and clumped in the middle and deep reticular dermis. Collagen fibers are also split and are said to unwind or flower. Similar calcification is noted in the tunic media and intima of the blood vessels.29 Special stains for calcium deposits (eg, von Kossa) and the elastic fibers (eg, Verhoeff van Gieson, Orcein) can confirm the diagnosis.

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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