title: Familial segmental neurofibromatosis.
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.
authors.affiliation: Department of Medical Biology, University of Hacettepe, Ankara, Turkey.
authors.forename: Sibel
authors.initials: S
authors.lastname: Oguzkan
authors.forename: Mine
authors.initials: M
authors.lastname: Cinbis
authors.forename: Sükriye
authors.initials: S
authors.lastname: Ayter
authors.forename: Banu
authors.initials: B
authors.lastname: Anlar
authors.forename: Sabiha
authors.initials: S
authors.lastname: Aysun
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics*; D019080:Cafe-au-Lait Spots / Q000235:genetics; D002648:Child; D006801:Humans; D008297:Male; D008548:Melanosis / Q000235:genetics; D018318:Neurofibroma, Plexiform / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree