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[Segmental neurofibromatosis]

P Huet1, M Dandurand, J M Joujoux

  • 1Centre Hospitalier Universitaire, Hôpital Caremeau, Nîmes.

Annales De Dermatologie Et De Venereologie
|January 1, 1993
PubMed
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Segmental neurofibromatosis, a rare condition affecting specific dermatomes, was identified in an 83-year-old woman. This case highlights the disease

Area of Science:

  • Genetics
  • Dermatology
  • Neurology

Background:

  • Segmental neurofibromatosis (SNF) is a rare variant, classified as Type 5 in Riccardi's system.
  • It presents with unilateral neurofibromas and café au lait spots along dermatomes.
  • SNF typically arises from post-zygotic somatic mutations, not hereditary factors.

Observation:

  • This report details the 83rd documented case of SNF.
  • The patient, an 83-year-old woman, presented with isolated cutaneous neurofibromas.
  • Lesions were localized to the right T10-L1 dermatomes.

Findings:

  • Segmental neurofibromatosis is categorized into four subgroups based on lesion laterality, family history, and systemic involvement.
  • The condition is generally non-hereditary, resulting from somatic mutations.

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  • The prognosis for SNF is favorable, with no reported cases progressing to generalized neurofibromatosis.

    • Implications:

    • This case contributes to the understanding of rare neurofibromatosis variants.
    • It underscores the importance of recognizing SNF's distinct presentation and favorable prognosis.
    • Further research into somatic mutations in neurofibromatosis may reveal new therapeutic targets.