Search results for "Neurofibromatosis type 1"
showing 7 items of 7 documents
A novel NF1 mutation in a pediatric patient with renal artery aneurysm
2022
Abstract Background Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal arteries. Case presentation We report on a 9-year-old girl with a novel mutation in NF1 gene and renal artery aneurysm, treated by coil embolization and complicated with hypertension. Conclusion Vasculop…
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
2017
Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Mutation detection is complex, due to the large gene size, the large variety of mutations and the presence of pseudogenes. Using Ion Torrent PGM⢠Platform, 73 mutations were identified in 79 NF1 Italian patients, 51% of which turned out to be novel mutations. Pathogenic status of each variant was classifi…
One
2019
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, which may explain the outbreak of independent de novo variants in the same family. Here, we report the co-occurrence of pathogenic variants in the NF1 and SPRED1 genes in six families with NF1 and Legius syndrome, using next-generation sequencing. In five of these families, we observed the co-occurrence of two independent NF1 variants. All NF1 variants were classified as pathogenic, according to t…
Manifestations of the tongue in Neurofibromatosis type 1
2006
Objective: The aim of this study is to analyse alterations of the tongue and the correlation between these lesions and different types of tumor. Subjects and methods: A total of 258 cases (131 females, 127 males) of neurofibromatosis type 1 were screened between 1994 and 2004 in our Dermatology Department. All patients included in this study have NF1, as defined by the NIH Consensus Conference. Three cases of neurofibromas of the tongue in patients with neurofibromatosis type were reported. Results: Our patients showed nodular lesions on the tongue, related to neurofibromas in two patients and plexiform neurofibroma in one patient, respectively. Clinical and hystopatological findings wer…
One NF1 Mutation may Conceal Another
2019
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, which may explain the outbreak of independent de novo variants in the same family. Here, we report the co-occurrence of pathogenic variants in the NF1 and SPRED1 genes in six families with NF1 and Legius syndrome, using next-generation sequencing. In five of these families, we observed the co-occurrence of two independent NF1 variants. All NF1 variants were classified as pathogenic, according to t…
Neurofibromatosis of the nipple-areolar area : nine case reports
2010
Introduction: Neurofibromatosis type 1 is an autosomal dominant disorder that occurs across all ethnic groups and affects approximately one in 4000 individuals. One of the most noticeable characteristics of the disease is the development of neurofibromas. Case presentation: A total of 258 patients (131 women, 127 men) with neurofibromatosis type 1 were evaluated between 1994 and 2004 in our hospital's dermatology department. Nine patients (3.45%, 95% confidence limits 1.22 to 5.68) had neurofibromas of the breast. One of these nine patients presented with an extensive congenital plexiform neurofibroma in the outer quadrants of her right breast, extending to the nipple-areolar complex. Meanw…
Retinal detachment with spontaneous dialysis of the ora serrata in a 13-year-old child with neurofibromatosis type 1: a case report.
2020
A 13‑year‑old child diagnosed with neurofibromatosis type 1 who on a routine control presented with rhegmatogenous retinal detachment associated to dialysis of the ora serrata in the left eye (OS). There were no clinical signs or history of contuse ocular trauma. Neurofibromatosis produces alterations in fibroblasts of the cortex of the vitreous base. This results in deficient production of the collagen fibers that anchor the vitreous base to the pars plana and the peripheral neurosensory retina. Thus, suboptimal function of the fibroblasts explains spontaneous avulsion of the vitreous base. Such avulsion in turn is related to dialysis of the ora serrata.