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Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.
Ruggieri M, Praticò AD, Serra A, Maiolino L, Cocuzza S, Di Mauro P, Licciardello L, Milone P, Privitera G, Belfiore G, Di Pietro M, Di Raimondo F, Romano A, Chiarenza A, Muglia M, Polizzi A, Evans DG. Ruggieri M, et al. Acta Otorhinolaryngol Ital. 2016 Oct;36(5):345-367. doi: 10.14639/0392-100X-1093. Acta Otorhinolaryngol Ital. 2016. PMID: 27958595 Free PMC article. Review.
Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) cafe-au-lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2 - …
Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques …
Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.
Bacci C, Sestini R, Ammannati F, Bianchini E, Palladino T, Carella M, Melchionda S, Zelante L, Papi L. Bacci C, et al. Clin Genet. 2010 Mar;77(3):293-7. doi: 10.1111/j.1399-0004.2009.01292.x. Epub 2009 Oct 23. Clin Genet. 2010. PMID: 19863548
We describe a 32-year-old woman with multiple ganglioneuromas of the cervical, dorsal and lumbar spine associated with a few cafe-au-lait spots and subcutaneous nodules. The patient lacked other NF1 stigmata, such as freckling, Lisch nodules and …
We describe a 32-year-old woman with multiple ganglioneuromas of the cervical, dorsal and lumbar spine associated with a few cafe …
The Genoa experience of prenatal diagnosis in NF1.
Origone P, Bonioli E, Panucci E, Costabel S, Ajmar F, Coviello DA. Origone P, et al. Prenat Diagn. 2000 Sep;20(9):719-24. doi: 10.1002/1097-0223(200009)20:9<719::aid-pd895>3.0.co;2-x. Prenat Diagn. 2000. PMID: 11015700
Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly variable from a few cafe-au-lait spots and axillary freckling to plexiform neurofibromas, optic gliomas, pseud …
Type 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500 live births. Symptoms are highly varia …
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.
Ruggieri M, Polizzi A, Salpietro V, Incorpora G, Nicita F, Pavone P, Falsaperla R, Nucifora C, Granata F, Distefano A, Padua L, Caltabiano R, Lanzafame S, Gabriele AL, Ortensi A, D'Orazi V, Panunzi A, Milone P, Mankad K, Platania N, Albanese V, Pavone V. Ruggieri M, et al. Neuropediatrics. 2013 Oct;44(5):239-44. doi: 10.1055/s-0033-1343350. Epub 2013 Jun 18. Neuropediatrics. 2013. PMID: 23780384 Review.
METHODS AND RESULTS: In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few cafe-au- …
METHODS AND RESULTS: In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy ( …
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A. Thiel C, et al. Am J Med Genet A. 2009 Jun;149A(6):1263-7. doi: 10.1002/ajmg.a.32837. Am J Med Genet A. 2009. PMID: 19449407
Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few cafe-au-lait spots as the only sign of neurofibromatosis. Since our patient's unique NF1 mutation results in skipping of exon 27a and thus involves the same regi …
Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few cafe-au-lait spots as …