• Journal of the Korean Society of Radiology
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• v.82 no.5
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• pp.1321-1327
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• 2021

Neurofibromatosis type 1 (NF1) is a relatively common inherited disorder characterized by the formation of neurofibromas, pigmentary abnormalities of the skin, Lisch nodules of the iris, and skeletal abnormalities. Multiple cutaneous neurofibromas are benign nerve sheath tumors and the main manifestation of NF1. Cardiac neurofibroma associated with NF1 is very rare, and few cases have been reported in the literature. Herein, we present the CT and MRI findings of a surgically confirmed left ventricular neurofibroma in a 32-year-old female with NF1.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.3
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• pp.556-561
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• 2008

Neurofibromatosis is an autosomal dominant disorder caused by a mutation of a tumor supressor gene on the long arm of chromosome 17. There are two types of neurofibromatosis, and development of neurofibroma is one of clinical diagnostic criteria for neurofibromatosis. The clinical signs of neurofibromatosis include as skin lesions, bone deformities, and tumors involving central nervous system. About 25% of neurofibromatosis involves oral neurofibroma. Radiographically, oral neurofibroma is well-defined unilocular radiolucency, which involves mandibular canal, mandibular foramen and mental foramen. When a lesion is small and approachable, complete resection, including 1cm of marginal connective tissue, is feasible. However, there are studies reporting that the recurrence rate after surgical resection is high and frequent recurrence may even increase the risk of malignant transformation. This case reports a patient with neurofibromatosis type I, accompanying oral neurofibroma, who shows a favorable result after surgical resection of the oral lesion.

• Journal of Chest Surgery
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• v.40 no.2 s.271
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• pp.140-142
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• 2007

Vascular involvement is a rare and life threatening complication of type I neurofibromatosis. A twenty-eight years old female with a family history of type I neurofibromatosis had sudden onset of upper back pain and dyspnea. Chest CT showed right massive hemothorax with aneurysmal rupture of the intercostal artery. She underwent an emergency operation on unstable hemodynamic status. We report a case of surgical treatment of spontaneous hemothorax in a patient with type I neurofibromatosis.

• The Journal of the Korean bone and joint tumor society
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• v.6 no.2
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• pp.77-81
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• 2000

Malignant peripheral nerve sheath tumors(MPNSTs) are uncommon sarcomas that mostly arise in the soft tissue. They can develop from the pre-existing neurofibromas or schwannomas, or denovo from the peripheral nerves, or they can occur following the radiation therapy. We report a case of MPNST that developed in the sciatic nerve of the patient with neurofibromatosis type-1(NF-1). The patient was a 39-year-old man with the history of NF-1, who's main symptom was a rapidly enlarging painful mass in his posterior thigh. The well demarcated tumor, $6.5{\times}5{\times}4.5$cm in size, was composed of closely packed spindle cells. Since the patients with NF-1 have a high risk for developing a recurred MPNST, the importance of the clinical follow up is emphasized.

• Journal of Chest Surgery
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• v.40 no.4 s.273
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• pp.317-320
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• 2007

Neurogenic tumors are the most common posterior mediastinal tumors and accounting for $19{\sim}39%$ of all mediastinal tumors and 75% of all posterior mediastinal tumors. Neurofibromatosis is an autosomal dominant disorder with variable expression of tumors, including neurologic tumors of the peripheral nerves, nrve roots, and plexi. A posterior mediastinal neufibroma in neurofibromatosis patients is rare. We report here a case of posterior mediastinal neurofibroma in a patient with type 1 neurofibromatosis.

• Journal of the Korean Society of Radiology
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• v.81 no.3
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• pp.726-732
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• 2020

Neurofibromatosis type 1 (NF1) is a common autosomal-dominant disorder. Vasculopathies associated with NF1 are rare and can cause aneurysms, stenoses, and arteriovenous malformations. Aneurysms may rupture spontaneously, which could be fatal. Spontaneous mesenteric hemorrhage due to rupture of an inferior mesenteric artery aneurysm associated with NF1 has rarely been reported. Herein, we report a case of spontaneous rupture of a fusiform aneurysm in the superior rectal artery in a 56-year-old woman with NF1 who was successfully treated with transcatheter arterial embolization.

• Journal of the korean academy of Pediatric Dentistry
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• v.38 no.2
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• pp.187-193
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• 2011

Neurofibromatosis is known as an autosomal dominant disorder caused by a mutation of a tumor suppressor gene on the long arm of chromosome 17 that affects the bone, nervous system, soft tissue, skin, and endocrine system. The most characteristic finding, which is helpful for clinical diagnosis as well, is the neurofibroma. Likewise brown macules called Cafe-au-lait spots with color of caffee latte, and Lisch nodules found around iris are useful to diagnose the disease. As known, the possibility of the neurofibromatosis occurred in oral cavity is relatively rare, and in most of cases it is related to soft tissue changes with single or multiple neurofibromatosis. The purpose of this report is to present characteristic dental findings which were found in a 4-year-old male and his father, both diagnosed as neurofibromatosis at Chonbuk National University Hospital before visiting our department, pediatric dentistry.

• The Journal of the Korean bone and joint tumor society
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• v.11 no.1
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• pp.82-87
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• 2005

Both neurilemmoma and neurofibroma are originated from Schwann cell. Plexiform tumor was mostly neurofibroma but Neurilemmoma which has plexiform is extremely rare. So it is important to differentiate plexiform neurilemmoma from plexiform neurofibroma, because plexiform neurilemmoma appears to have neither a significant association with neurofibromatosis nor a propensity for malignant transformation. We report two cases of plexiform neurilemmoma involving the left arm and right foot.

• Journal of the Korean Society of Radiology
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• v.82 no.2
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• pp.417-422
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• 2021

Neurofibromatosis type 1 (NF1) is a rare neuroectodermal disease that is associated with an increased risk of malignancy. Here, we report a rare case of bilateral breast cancer in a 49-year-old woman with NF1 that presented as a microlobulated oval hypoechoic mass and a complex cystic solid mass on sonography. She underwent bilateral mastectomy. The masses were diagnosed as invasive ductal carcinoma, ductal carcinoma in situ, and a malignant peripheral nerve sheath tumor. We describe the imaging findings, including ultrasonography, CT, and ¹⁸F-fluorodeoxyglucose PET.

• Clinics in Shoulder and Elbow
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• v.1 no.1
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• pp.132-137
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• 1998

Neurofibromatosis is characterized by its skeletal involvement and cutaneous manifestation. Some patients develop focal area of hypoplasia and atrophy at limbs. We present the case of a 13-year-old boy with a fracture of the hypoplastic clavicle associated with neurofibromatosis and brownish cutaneous macules. The patient received open reduction and internal fixation with a semitubular plate and biopsy was done in order to clarify the pathology.