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Related Experiment Video

Updated: Apr 18, 2026

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
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Segmental neurofibromatosis.

Michał Sobjanek1, Magdalena Dobosz-Kawałko2, Igor Michajłowski1

  • 1Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdansk, Poland. Head of the Department: Prof. Roman Nowicki MD, PhD.

Postepy Dermatologii I Alergologii
|January 23, 2015
PubMed
Summary

Segmental neurofibromatosis, a rare skin disorder, presents localized neurofibromas. This case report details a 63-year-old woman with this condition, highlighting its localized presentation without systemic involvement.

Keywords:
mosaic-localized neurofibromatosis type 1segmental neurofibromatosistype V neurofibromatosis

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Area of Science:

  • Dermatology
  • Medical Genetics

Background:

  • Segmental neurofibromatosis (SNF), or type V neurofibromatosis, is a rare genodermatosis.
  • Characterized by localized neurofibromas and café-au-lait spots in a circumscribed body region.
  • SNF may be associated with systemic involvement and malignancies.

Observation:

  • A 63-year-old Caucasian woman presented with a 20-year history of multiple nodules.
  • Nodules were flesh-colored, dome-shaped, and located in the right lumbar region.
  • No neurological or ophthalmologic symptoms of neurofibromatosis were diagnosed.

Findings:

  • Histopathologic evaluation confirmed the presence of neurofibromas.
  • The patient's condition was limited to a specific body region, consistent with segmental neurofibromatosis.
  • This represents the first reported case in Polish medical literature.

Implications:

  • This case expands the understanding of segmental neurofibromatosis presentation.
  • Highlights the importance of considering localized forms of neurofibromatosis.
  • Contributes to the rare disease literature, particularly in Poland.