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Related Concept Videos

Neurulation01:30

Neurulation

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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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Updated: Feb 19, 2026

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
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An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

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[Segmental neurofibromatosis].

G Wagner1, V Meyer2, M M Sachse2

  • 1Klinik für Dermatologie, Allergologie und Phlebologie, Klinikum Bremerhaven Reinkenheide, Postbrookstr. 103, 27574, Bremerhaven, Deutschland. gunnar.wagner@klinikum-bremerhaven.de.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|November 10, 2017
PubMed
Summary
This summary is machine-generated.

Segmental neurofibromatosis (SN) resulted from mosaic NF1 gene mutation. This rare condition, presenting in a circumscribed area, typically excludes general neurofibromatosis complications.

Keywords:
Blaschko’s linesCancerGeneralized neurofibromatosisMosaicismPostzygotic mutations

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Area of Science:

  • Medical Genetics
  • Oncology
  • Dermatology

Background:

  • Neurofibromatosis is a group of genetic disorders.
  • Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 tumor suppressor gene.
  • Segmental neurofibromatosis (SN) is a rare variant, often resulting from mosaicism.

Observation:

  • A 48-year-old man presented with localized neurofibromas on his right chest.
  • Simultaneously, he was diagnosed with and successfully treated for bilateral seminoma.
  • No other signs of generalized neurofibromatosis or relevant family history were noted.

Findings:

  • The patient's condition was diagnosed as segmental neurofibromatosis (SN).
  • SN in this case is attributed to mosaic formation due to a mutation in the NF1 gene.
  • The occurrence of typical generalized neurofibromatosis (NFG) complications, including malignancies, is exceptional in SN.

Implications:

  • This case highlights the NF1 gene's role in mosaic presentations.
  • It underscores that segmental neurofibromatosis can occur independently of generalized forms.
  • Understanding mosaic NF1 is crucial for accurate diagnosis and management of rare neurofibromatosis presentations.