Search results for "Fibromatosis"
showing 10 items of 56 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…
Isolated Pediatric Intramedullary Schwannoma: Case Report and Review of Literature
2018
Background: Intramedullary (IM) schwannomas are rare entities representing 0.3%−1% of intramedullary tumors and 1.1% of spinal schwannomas. Beside many theories proposed, their rare occurrence might be related to the absence of Schwann cells in the spinal cord. Pediatric IM schwannomas are uncommon, and in the absence of neurofibromatosis they are extremely rare. To date, few cases have been reported in the literature. Case Description: We describe the case of an 8-year-old female affected by a progressive paraparesis. Neuroradiologic investigations showed an oval-shaped mass at the level of T10-T11. The patient underwent surgery, performed under neurophysiologic monitoring. The patient was…
Juvenile Xanthogranuloma and Nevus Anemicus in the Diagnosis of Neurofibromatosis Type 1
2013
Importance The diagnosis of neurofibromatosis type 1 (NF1) is based on 7 clinical criteria. However, they are of limited value before the age of 2 years. Juvenile xanthogranuloma (JXG) and nevus anemicus (NA) are commonly observed in children with NF1 and may be useful diagnostic clues. Objectives To evaluate the frequency of JXG and NA, to describe their clinical features, and to determine their diagnostic value in patients with NF1. Design, Setting, and Participants Retrospective medical record review of outpatients seen between January 1, 2005, and December 31, 2011. University hospital dermatology department affiliated with the French NF1 referral center network. Patients with NF1 diagn…
Hereditary gingival fibromatosis: clinical and ultrastructural features of a new family
2014
Objective: This article describes the diagnosis, clinical and microscopic (histopathology and ultrastructural) features and treatment of a new family with hereditary gingival fibromatosis (HGF) and highlights the importance of this genetic condition. Study Design: To characterize the pattern of inheritance and the clinical features, members of a new family with HGF were examined. The pedigree was reliably constructed including the four latest generations of family. Hematoxylin and eosin staining and ultrastructural analysis were performed with the gingival tissue. Results: Examination of the family pedigree revealed that the patient III-2 represent the index patient of this family (initial …
Childhood microphthalmic neurofibromatosis.
1989
We present an atypical case of neurofibromatosis marked by young age at onset, rapid invasiveness of the tumor, the presence of curious autonomic symptoms, cranial malformation and congenital microphthalmus, a combination that suggests a new syndrome, which might be called childhood microphthalmic neurofibromatosis.
Current standing and frontiers of gene therapy for meningiomas
2013
Meningiomas are among the most common intracranial tumors. The treatment of choice for these lesions is complete resection, but in 50% of cases it is not achieved due to tumor location and/or surgical morbidities. Moreover, benign meningiomas have high recurrence rates of up to 32% in long-term follow-up. Molecular analyses have begun to uncover the genetics behind meningiomas, giving rise to potential genetics-based treatments, including gene therapy. The authors performed a literature review on the most relevant genes associated with meningiomas and both current and potential gene therapy strategies to treat these tumors. Wild-type NF2 gene insertion, oncolytic viruses, and transfer of si…
A rare disease and education : Neurofibromatosis type 1 decreases educational attainment
2021
Rare heritable syndromes may affect educational attainment. Here, we study education in neurofibromatosis 1 (NF1) that is associated with multifaceted medical, social and cognitive consequences. Educational attainment in the Finnish population‐based cohort of 1408 individuals with verified NF1 was compared with matched controls using Cox proportional hazards model with delayed entry and competing risk for death. Moreover, models accounting for the effects of cancer at age 15–30 years, parental NF1 and developmental disorders were constructed. Overall, the attainment of secondary education was reduced in individuals with NF1 compared to controls (hazard ratio 0.83, 95%CI 0.74–0.92). History …
Neurofibromatosis type 2 tumor suppressor protein is expressed in oligodendrocytes and regulates cell proliferation and process formation.
2017
The neurofibromatosis type 2 (NF2) tumor suppressor protein Merlin functions as a negative regulator of cell growth and actin dynamics in different cell types amongst which Schwann cells have been extensively studied. In contrast, the presence and the role of Merlin in oligodendrocytes, the myelin forming cells within the CNS, have not been elucidated. In this work, we demonstrate that Merlin immunoreactivity was broadly distributed in the white matter throughout the central nervous system. Following Merlin expression during development in the cerebellum, Merlin could be detected in the cerebellar white matter tract at early postnatal stages as shown by its co-localization with Olig2-positi…
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.
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…