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Updated: Dec 14, 2025

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

Neurofibromatosis I and multiple sclerosis.

Christina Bergqvist^1,2, François Hemery³, Salah Ferkal^2,4

¹Faculty of Medicine, Universite Paris-Est Creteil , Créteil, France.

Orphanet Journal of Rare Diseases

|July 16, 2020

Summary

Neurofibromatosis 1 (NF1) patients may have a slightly increased risk of developing multiple sclerosis (MS). Further large-scale studies are needed to confirm this rare association and guide patient follow-up.

Keywords:

Autoimmune disease Genodermatosis Multiple sclerosis Neurofibromatosis 1

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Area of Science:

Neuroimmunology
Genetics
Epidemiology

Background:

Neurofibromatosis 1 (NF1) is a common genetic disorder linked to nervous system tumors.
NF1 patients exhibit a higher incidence of non-tumoral neurological conditions, including multiple sclerosis (MS).
Limited epidemiological data exists on MS prevalence within the NF1 population.

Discussion:

This study estimated the population proportion of MS in NF1 patients using electronic health records.
Five out of 1507 adult NF1 patients were diagnosed with MS, yielding a proportion of 3.3 per 1000.
NF1 patients showed a non-statistically significant trend towards increased MS likelihood (OR 2.2).

Key Insights:

The estimated MS prevalence in NF1 is 0.33%, with a median diagnosis age of 45.
Observed MS subtypes included relapsing-remitting and secondary progressive forms.
A potential, though not statistically significant, increased risk of MS in NF1 patients was identified.

Outlook:

Small sample size limits definitive conclusions; larger, nationwide studies are necessary.
Findings suggest a possible link between NF1 and MS, warranting further investigation.
Emphasizes the importance of focused follow-up for NF1 patients to enable early MS detection and management.