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

Angela Puccini Moreira1, Flávia Sousa Feijó, Jane Marcy Neffá Pinto

  • 1Universidade Federal Fluminense, Hospital Universitário Antônio Pedro - Serviço de Dermatologia, Niterói, Rio de Janeiro, Brazil. angelapuccini@bol.com.br

Dermatology Online Journal
|March 14, 2009
PubMed
Summary

This case study highlights pseudoxanthoma elasticum (PXE), a rare genetic disorder affecting elastic tissues. Early diagnosis through skin examination and biopsy is crucial for managing associated cardiovascular risks.

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Area of Science:

  • Dermatology
  • Ophthalmology
  • Genetics

Background:

  • Pseudoxanthoma elasticum (PXE) is a rare inherited disorder affecting connective tissues, primarily the skin, eyes, and cardiovascular system.
  • It is characterized by progressive calcification and fragmentation of elastic fibers.

Observation:

  • A 55-year-old man presented with progressive vision loss and characteristic skin lesions.
  • Cutaneous examination revealed multiple small, yellow papules coalescing into plaques on the neck, axillae, and periumbilical regions, with redundant axillary skin folds.
  • Ocular examination identified angioid streaks in the fundi.

Findings:

  • Skin biopsy confirmed fragmentation of elastic fibers and dermal calcification, consistent with PXE.
  • The patient's clinical presentation, histopathology, and ocular findings led to a diagnosis of pseudoxanthoma elasticum.

Implications:

  • This case underscores the importance of dermatological evaluation in diagnosing PXE.
  • Prompt diagnosis facilitates necessary cardiovascular and ophthalmological assessments to prevent severe complications.
  • Further cardiovascular evaluation was recommended for this patient due to potential systemic involvement.