Search results for "Neurofibromatosis."

Oral manifestations of Type I Neurofibromatosis in a family

2011

Neurofibroma is a benign peripheral nerve sheath tumor. It is one of the most frequent tumors of neural origin and its presence is one of the clinical criteria for the diagnosis of neurofibromatosis type I (NF-I). Neurofibromatosis type I is an autosomal dominantly inherited disease due to an alteration in the long arm of chromosome 17. About 50% of NF-I patients have no family history of the disease. NF-I patients have skin lesions (café au lait spots and neurofibromas) as well as bone malformations and central nervous system tumors. Diagnosis is based on a series of clinical criteria. NF-I presents with certain definite oral manifestations which confers to the dentists a major responsibil…

Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient

2008

Abstract CONTEXT: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X). OBJECTIVE: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded. RESULTS: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and rec…

Patterns of Prior and Subsequent Neoplasms in Children and Adolescents With Soft Tissue Sarcomas.

2020

Background The occurrence of prior, concurrent and subsequent neoplasms (SN) represents a serious problem in children and adolescents with soft tissue sarcomas. Pathogenic germline variants contribute to the diagnosis of multiple neoplasms in sarcoma survivors. Materials and methods The records of 748 children and adolescents, diagnosed with soft tissue sarcomas and registered in trials/registries by the cooperative soft tissue sarcoma (Cooperative Weichteilsarkom Studie) group, were reviewed for the occurrence of SNs. Reference histology review was available for all cases; the presence of oncogenic fusions known at the time of diagnosis was confirmed for fusion-positive (F+) entities. Resu…

Gists eredo familiari e pediatrici: aspetti biomolecolari e clinici.

2008

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.

Malignant peripheral nerve sheath tumor of the maxila

2005

Summary We present a case of a malignant peripheral nerve sheath tumor [MPNST] of the maxilla corresponding to a 12 year old male who had a painful, ulcerated rapid growing tumor. Histology revealed the presence of a tumor consisting of fusiform cells with abundant mitosis, with negative cytokeratins, actin, desmin, myoglobin and factor VIII. In contrast, the protein S-100 was positive. MPNST was not associated with signs of Neurofibromatosis Type 1. The patient was surgically intervened and received radiotherapy, then died within 10 months posterior to surgical intervention after suffering recurrence.

Uncommon site of Neurofibromatosis type 1 (NF1) involving the external auditory canal (EAC). Case Report

2007

Purpose: Evaluation and discussion of the procedure of the gufoni manoeuvre and its advantages in the treatment of BPPV of LSC Matherial and methods:Prospective study of 58 patients affected by LSC BPPV who where office-treated with Gufoni manoeuvre Results:Seventy-nine percent of ptients so treated had complete resolution of symptons, and 6,9% did not show any improvement in their symptons.The remaining 13,8% had a conversion into posterior semicircular BPPV Conclusions:Gufoni''s manoeuvre is effective in treating patients suffering from BPPV of LSC;it is simple to perform;there are not many movement to execute, it needs low time of positioning, and positionsare confortable to the patient …

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…

Absence of mutation at the GAP-related domain of the neurofibromatosis type 1 gene in sporadic neurofibrosarcomas and other bone and soft tissue sarc…

1995

The NF1 gene encodes neurofibromin, a GTPase-activating protein containing a GAP-related domain (NF1-GRD) that is capable of downregulating ras by stimulating ras intrinsic GTPase activity. We tested 44 sarcomas, nine of which corresponded to sporadic neurofibrosarcomas, for mutations at the NF1-GRD by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique, finding no mutation in every sample tested. We suggest that inactivation of the NF1-GRD by gene mutation seems not to be an important event in the tumorigenesis of sarcomas.

Gingival neurofibroma in a neurofibromatosis type 1 patient: Case report

2007

Neurofibroma is a benign peripheral nerve sheath tumour. It is one of the most frequent tumours of neural origin and its presence is one of the clinical criteria for the diagnosis of type 1 neurofibromatosis (NF-I). Neurofibromatosis type 1 is an autosomal dominantly inherited disease due to an alteration in the long arm of chromosome 17. About 50% of NF-I patients have no family history of the disease. NF-I patients have skin lesions (café au lait spots and neurofibromas) as well as bone malformations and central nervous system tumours. Diagnosis is based on a series of clinical criteria. Gingival neurofibroma in NF-I is uncommon. Treatment of neurofibromas is surgical resection. The aim o…