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Related Experiment Videos

[Cutaneous-splanchnic neurofibromatosis]

H Darie1, Y Veran, T Le Guyadec

  • 1Service de Dermatologie, Hôpital d'Instruction des Armées Bégin, Saint-Mandé.

Annales De Dermatologie Et De Venereologie
|September 25, 1998
PubMed
Summary

Segmental neurofibromatosis (NF V) is rare, but visceral involvement risk necessitates systematic imaging. This case highlights deep tumor locations and the importance of early detection for potential malignant degeneration in NF V patients.

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Area of Science:

  • Medical Genetics
  • Oncology
  • Radiology

Background:

  • Segmental neurofibromatosis (NF V) is a rare variant of neurofibromatosis, significantly less common than neurofibromatosis type 1 (Recklinghausen disease).
  • The potential for visceral organ involvement in NF V raises questions about the necessity of routine imaging surveillance.

Observation:

  • A 31-year-old male presented with a large plexiform neurofibroma and a café au lait spot.
  • Imaging revealed intramuscular tumoral extension, neurofibromas in the intercostal space, and a significant adrenal area tumor.
  • Pathology confirmed the adrenal tumor as a ganglioneuroma.

Findings:

  • The patient's neurofibromas, café au lait spot, and ganglioneuroma were associated with left T10 and adjacent spinal roots, consistent with NF V subgroup 2.

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  • This case represents one of only seven reported instances of this specific NF V classification.
  • Deep-seated tumor localizations in NF V are likely underdiagnosed.

    • Implications:

    • Early and thorough imaging (CT/MRI) is crucial for detecting deep, asymptomatic spread in NF V, especially in younger patients.
    • Systematic imaging protocols are warranted to monitor for disease progression and potential malignant transformation, which carries a poor prognosis.
    • Genetic counseling and a comprehensive clinical evaluation, including family history and examination for Lisch nodules, are essential for diagnosing and managing NF V.