Genetic counseling in segmental neurofibromatosis

Segmental neurofibromatosis: a rare or underestimated disease?

“…Other reports suggest the possibility of a genetic transmission for segmental NF [8]. Some authors have proposed that the etiology of segmental fibromatosis may be explained by a somatic mutation in embryonic development: a post-zygotic mutation of the NF-1 gene in a primitive cell of the neural crest (a mosaicism for the NF-1 gene) [3,6.8-IO|.…”

Segmental neurofibromatosis of facial localization

“…Some authors believe that somatic mosaicism may be present, which could explain its limited distribution 10 . It could be an example of gonadal mosaicism, in which the germ cells (egg or sperm) contain the mutation and a parent affected with segmental neurofibromatosis may have a child affected with neurofibromatosis type I 11 or could give rise to localized neurofibromatosis 12,13 . Other authors believe it is caused by somatic mutation of the neurofibromatosis type I gene.…”

Segmental neurofibromatosis

“…We believe that there are no clear diagnostic criteria for consistent reporting of such cases of segmental neurofibromatosis on the basis of a few case reports. 6 The diagnosis of multiple neurofibromata is an important differential for discrete lesions in the orbit. 7 This may represent a mild form of neurofibromatosis or a case of segmental NF.…”

“…At 2 months after the initial operation, we performed phacoemulsification of the lens, intraocular lens implantation, three-port pars plana vitrectomy, peeling of the posterior hyaloid membrane and fluid-gas exchange with 20% SF 6 . At the end of the surgery, trans-scleral diathermy was applied posterior to the sites of the cyclodialysis clefts to anchor the ciliary body to the sclera firmly.…”