Fibrous dysplasia of the temporal bone (original) (raw)
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Intestinal neurofibromatosis and small-bowel adenocarcinoma: a single case study
European Journal of Cancer Care, 2009
Objective: Patients with Von Recklinghausen's disease (neurofibromatosis type 1) are at increased risk of developing various tumours. However, the coexistence of neurofibromatosis with small-bowel adenocarcinoma is exceedingly rare. We present an uncommon case of neurofibromatosis type 1, involving the small bowel in a 73-year-old man, who was admitted to our department with signs of acute abdomen. At laparotomy, multiple mesenteric and intramural nodules were seen in the distal ileum. These nodules obstructed ileal lumen, while the intestine wall was perforated in one point. A wide resection of the affected ileum together with all visible nodules in the adjacent mesentery was performed. Histology revealed neurofibromatosis type 1 with malignant transformation to small-bowel adenocarcinoma. The patient had no additional therapy. In a follow-up of 2 years, the patient is very well and there was no recurrence of the disease. We suggest that adenocarcinoma of small bowel should be considered in the evaluation of acute abdominal pain in neurofibromatosis patients.
Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review
Insights into Imaging
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised. Their heterogeneous spectrum ranges from localised microscopic proliferative lesions to grossly recognizable mass-forming neurofibromas, neuroendocrine and gastrointestinal stromal tumours (GIST). The aim of this study is discussing the imaging evaluation and characterisation of the abdomen lesions in patients with NF1. Teaching Points • Neurofibromatosis type (NF-1) is one of the most common single gene disorders. • Every organ system can be involved and intra-abdominal manifestations are underestimated. • The NF1 abdominal manifestations comprehend five categories of tumours. • Neurogenic tumours including with neurofibromas are the most common type. • Early diagnosis of abdominal manifestations of NF-1 based on imaging patterns is necessary for appropriate treatment to avoid serious organic complications related to tumour mass.
Isolated Primary Neurofibroma of Small Intestine: Presenting as Acute Intestinal Obstruction
Journal of case reports, 2017
Background: Neurofibromas of the small bowel are rare and usually are part of the involvement in neurofibromatosis type 1 (Nf1, von Recklinghausen's disease). Solitary neurofibromas of the small bowel are extremely rare. Case Report: We describe a case of an isolated neurofibroma originating in small bowel of a patient who presented to us with recurrent sub-acute intestinal obstruction. Conclusion: Presentation of isolated neurofibroma of small intestine as acute obstruction is rare and preoperative diagnosis is difficult.
Gastrointestinal and Retroperitoneal Manifestations of Type 1 Neurofibromatosis
Journal of Gastrointestinal Surgery, 2010
Background Type 1 neurofibromatosis (NF1) is a genetic disease characterized by neoplastic and not neoplastic disorders, involving tissues of neuroectodermal or mesenchymal origin. The mainly involved districts are skin, central nervous system, and eye, and there is a wide range of severity of clinical presentations. Data sources Abdominal manifestations of NF1 comprehend five categories of tumors: neurogenic with neurofibromas, malignant peripheral nerve sheath tumors and ganglioneuromas, neuroendocrine with pheochromocytomas and carcinoids, non-neurogenic gastrointestinal stromal tumors, i.e., GISTs, and embryonal tumors and miscellaneous. Conclusions Early diagnosis of these abdominal manifestations is very important given the risk of malignancy, organic complications such as in the case of pheochromocytomas or hemorrhagic-obstructive complications such as in the case of the tumors of the gastrointestinal tract (GISTs and neurofibromas). The importance of an annual clinical evaluation on the part of a multidisciplinary pool of clinicians in highly specialized centers allows early detection of complications and of neoplastic transformation.
A rare malignancy in a patient with neurofibromatosis: Gastric adenocarcinoma
Northern Clinics of Istanbul, 2015
Neurofibromatosis is an autosomal dominant disease that is characterized by cutaneous hyperpigmentation and multiple neurofibromas and often accompanied by localized peripheral and central neural tumors. Gastrointestinal involvement is seen in 25% of the cases. Gastrointestinal stromal tumors, pancreatic and duodenal neuroendocrine tumors are the most common tumors in patients with neurofibromatosis. Neurofibromatosis and gastric adenocarcinoma constitute an extremely rare combination. In this case report we aim to present a patient with neurofibromatosis operated due to gastric adenocarcinoma.
International Journal of Surgical Oncology, 2013
Aims. The objectives of this study were (a) to report our experience regarding the association between neurofibromatosis type 1 (NF1) and gastrointestinal stromal tumors (GISTs); (b) to provide a systematic review of the literature in this field; and (c) to compare the features of NF1-associated GISTs with those reported in sporadic GISTs. Methods. We reported two cases of NF1-associated GISTs. Moreover we reviewed 23 case reports/series including 252 GISTs detected in 126 NF1 patients; the data obtained from different studies were analyzed and compared to those of the sporadic GISTs undergone surgical treatment at our centre. Results. NF1 patients presenting with GISTs had a homogeneous M/F ratio with a mean age of 52.8 years. NF1-associated GISTs were often reported as multiple tumors, mainly incidental, localized at the jejunum, with a mean diameter of 3.8 cm, a mean mitotic count of 3.0/50 HPF, and KIT/PDGFR wild type. We reported a statistical difference comparing the age and the symptoms at presentation, the tumors' diameters and localizations, and the risk criteria of the NF1-associated GISTs comparing to those documented in sporadic GISTs. Conclusions. NF1-associated GISTs seem to have a distinct phenotype, specifically younger age, distal localization, small diameter, and absence of KIT/PDGRF mutations.