Search results for " neurofibroma"
showing 10 items of 14 documents
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
2018
Abstract Background The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well…
NF1 microdeletion syndrome: case report of two new patients
2019
Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus fo…
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…
Malignant Peripheral Nerve Sheath Tumor With Osseous Heterologous Differentiation in Uncommon Locations (Heart and Retropharynx)
2016
We report two cases of malignant peripheral nerve sheath tumor (MPNST) in an uncommon location (heart and retropharynx) both with divergent osseous heterologous differentiation. We present the pathological and immunohistochemical studies that confirmed the neurogenic origin. The histopathology of the tumor arising in the retropharynx showed a transition from a neurofibroma to MPNST, making this a new report of an MPNST arising from a plexiform neurofibroma without neurofibromatosis. Primary cardiac MPNST with osseous differentiation has never been reported before. In conclusion, the histology of MPNSTs is very heterogeneous, showing no specific diagnostic immunoprofile or genetic alteration…
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…
Microcystic pseudoglandular plexiform cutaneous neurofibroma
2015
Glandular structures are well documented to appear in peripheral nerve sheath tumors. These epithelial elements are usually present in malignant peripheral nerve sheath tumors although a few cases of glandular benign peripheral nerve sheath tumors have also been described, most of them being schwannomas. A neurofibroma with glands is considered to be a rare type of divergent differentiation, but a neurofibroma containing gland-like or pseudoglandular structures have not, to our knowledge, been described. We report a 33-year-old patient with a well-demarcated dermal neoplasm, composed of neoplastic Schwann cells, perineurial-like cells and fibroblasts in a matrix with collagen fibers and myx…
Management of large dorsal diffuse plexiform neurofibroma
2014
Abstract Neurofibromas are considered one of the hallmark signs of neurofibromatosis type 1(NF1). Diffuse plexiform neurofibroma is a congenital NF1-associated tumor, characterized by overgrowth and interference with function of the affected area. The rich vascular plexus associated with neurofibromas, together with their infiltrative pattern, makes them difficult to eradicate. Complications of neurofibromas are rare but include malignant transformation and potentially lifethreatening hemorrhages. The use of the term “giant” to define a neurofibroma is controversial because there is no clear consensus and descriptions are limited to few case reports. We report a case of a large dorsal diffu…
Small bowel gastrointestinal stromal tumor presenting with gastrointestinal bleeding in patient with type 1 Neurofibromatosis: Management and laparos…
2021
Highlights • A multidisciplinary team is mandatory for the correct management of hemorrhagic GIST and its complications. • There is a well-known association between type 1 Neurofibromatosis and GIST. • Type 1 Neurofibromatosis-GIST and sporadic GIST have different behaviour. • In case of localised and resectable GIST surgical treatment is the mainstay. • Laparoscopic approach, if performed correctly, is safe and effective with better short-term outcomes then open surgery.
Su Un Raro Caso di Neurofibroma Plessiforme Del Pavimento Orale
1956
A case of plexiform neurofibroma of the oral floor is described, its rarity underlined and its pathogenesis discussed. The different hypotheses concerning the tumours of the peripheral nervous system are referred and cases from the literature showing similarities with the one under examination are reviewed.