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Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions

Maria B Musumeci1, Lorenzo Semprini, Matteo Casenghi

  • 1aCardiology, Clinical and Molecular Medicine Department, 'Sapienza' University of Rome, Rome bIRCCS Neuromed, Pozzilli (IS), Italy cPathology Department, 'Sapienza' University of Rome, Rome, Italy.

Journal of Cardiovascular Medicine (Hagerstown, Md.)
|July 19, 2014
PubMed

Insights

This case study details a rare instance of AL amyloidosis with pseudoxanthoma elasticum, highlighting severe cardiac involvement that negatively impacted prognosis. Definitive diagnosis of amyloid elastosis was precluded by atypical electron microscopic findings.

Area of Science:

  • Cardiology
  • Dermatology
  • Pathology

Background:

  • AL amyloidosis is a plasma cell dyscrasia causing amyloid deposition.
  • Pseudoxanthoma elasticum is a rare genetic disorder affecting elastic tissues.
  • Amyloid elastosis represents a rare association between these conditions.

Observation:

  • A patient presented with AL amyloidosis and pseudoxanthoma elasticum skin lesions.
  • Severe cardiac involvement was noted, significantly influencing the patient's prognosis.
  • Electron microscopy revealed atypical histopathological findings.

Findings:

  • The co-occurrence of AL amyloidosis and pseudoxanthoma elasticum is exceptionally rare.
  • Cardiac dysfunction was a major determinant of the negative prognosis in this case.
  • Histopathological findings were not fully consistent with classic amyloid elastosis.

Implications:

  • This case underscores the complex interplay between systemic diseases and their manifestation in cardiac and dermal tissues.
  • The atypical findings challenge current diagnostic criteria for amyloid elastosis.
  • Further research is needed to elucidate the pathogenesis and diagnostic markers of this rare association.

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