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[Neurocutaneous melanosis]

L Noronha1, G Sampaio, M R Netto

  • 1Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil.

Jornal De Pediatria
|December 20, 2003
PubMed
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Neurocutaneous melanosis, a rare congenital syndrome, presents with melanocytic nevi and leptomeningeal tumors. This case highlights the poor prognosis and potential for improved survival with early diagnosis of this embryological defect.

Area of Science:

  • Neurology
  • Dermatology
  • Pathology

Background:

  • Neurocutaneous melanosis (NCM) is a rare congenital syndrome.
  • It is characterized by large or multiple melanocytic nevi and pigmented leptomeningeal tumors.
  • The condition arises from an embryological defect, specifically a neural crest cell migration defect.

Purpose of the Study:

  • To describe the morbidity and mortality associated with neurocutaneous melanosis.
  • To report a fatal case of NCM in a pediatric patient.
  • To emphasize the importance of early diagnosis for potentially improving patient outcomes.

Main Methods:

  • Retrospective review of medical and necropsy reports.
  • Comprehensive bibliographic research utilizing MEDLINE, LILACS, and Index Medicus databases.

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Main Results:

  • A 1-year-old male presented with seizures, progressing to coma and death within hours.
  • Necropsy revealed diffuse leptomeningeal malignant melanoma affecting the brain stem, cerebellum, spinal cord, and temporal lobe.
  • The findings were associated with a giant melanocytic nevus and satellite lesions.

Conclusions:

  • Neurocutaneous melanosis has a poor prognosis, as exemplified by the reported case.
  • The underlying pathophysiology involves a defect in primitive neural crest cell migration.
  • Early diagnosis of NCM may offer a chance to improve survival time.