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Updated: Aug 23, 2026
An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
Published on: October 10, 2025
Familial segmental neurofibromatosis
Sibel Oguzkan1, Mine Cinbis, Sükriye Ayter
1Department of Medical Biology, University of Hacettepe, Ankara, Turkey.
Abstract:
Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized neurofibromatosis 1, whereas members of previous generations manifest segmental skin lesions. All, including the clinically asymptomatic grandmother, carry the same haplotype. This is the only case in the literature in which a parent with segmental skin findings has a child with full-blown neurofibromatosis 1 disease. The genetic mechanisms underlying this association are discussed. This family can be further investigated by examination of tissue samples from affected and unaffected sites for mutations.
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