Related Experiment Video

Updated: Oct 3, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
06:15

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

Pseudoxanthoma elasticum diagnosed 25 years after the onset of cardiovascular disease

Y Araki1, T Yokoyama, N Sagawa

  • 1Second Department of Internal Medicine, Gunma University School of Medicine, Maebashi.

Internal Medicine (Tokyo, Japan)
|January 5, 2002
PubMed

Insights

This case highlights pseudoxanthoma elasticum (PXE), a rare genetic disorder, diagnosed 25 years after initial cardiovascular symptoms. Angioid streaks in the eye led to the diagnosis of PXE in a patient with severe cardiovascular disease.

Area of Science:

  • Ophthalmology
  • Cardiology
  • Dermatology
  • Genetics

Background:

  • The patient presented with a history of early-onset cerebral and myocardial infarctions, necessitating multiple coronary angioplasties.
  • Coronary angiography revealed extensive multi-vessel disease and significant stenosis in bypass grafts, indicating severe, advanced cardiovascular pathology.

Observation:

  • Funduscopic examination, performed to assess hypertensive and diabetic changes, revealed the presence of angioid streaks.
  • Despite the absence of typical skin manifestations, a skin biopsy was conducted for further investigation.

Findings:

  • Histopathologic analysis of the skin biopsy demonstrated characteristic calcification and fragmentation of elastic fibers.
  • These findings confirmed the diagnosis of pseudoxanthoma elasticum (PXE).

Implications:

  • This case underscores the importance of considering PXE in patients with unexplained, severe cardiovascular disease and ocular findings like angioid streaks.
  • The delayed diagnosis of PXE, occurring 25 years after the initial cardiovascular presentation, highlights the potential for a long diagnostic odyssey.
  • Early recognition of PXE may allow for proactive management of associated cardiovascular and ophthalmologic complications.

More Related Videos

Elastic Staining on Paraffin-embedded Slides of pT3N0M0 Gastric Cancer Tissue06:36

Elastic Staining on Paraffin-embedded Slides of pT3N0M0 Gastric Cancer Tissue

Published on: May 1, 2019

Related Concept Videos

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...