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

• Journal of the korean academy of Pediatric Dentistry
• /
• v.35 no.3
• /
• pp.556-561
• /
• 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 the Korean Society of Radiology
• /
• v.82 no.2
• /
• pp.417-422
• /
• 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.

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

• Clinics in Shoulder and Elbow
• /
• v.16 no.2
• /
• pp.135-140
• /
• 2013

We report a case of recurrent shoulder dislocation and combined proximal humerus fracture in neurofibromatosis type I. A twenty-year-old male patient with known neurofibromatosis type I presented with right shoulder dislocation and proximal humerus fracture following a minor trauma. His injured arm also had large plexiform neurofibromas on the elbow, and the dislocation of the shoulder joint was proven to be recurrent. Bony deformation of the humerus and scapula were revealed on X-ray and computed tomography, as well as multiple neurofibromatic changes of the deltoid and periscapular muscles were noted on magnetic resonance imaging. Open reduction and capsular reconstruction were performed and humeral fracture was stabilized with a reconstruction plate. Satisfactory union and functional result were achieved and the dislocation did not recur until the 7-month followup after the procedure. Recurrent shoulder dislocation and combined proximal humerus fracture in neurofibromatosis type I are rare complications. However, it should still be considered in the orthopaedic evaluation process of the diseases.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.37 no.2
• /
• pp.240-245
• /
• 2010

Neurofibromatosis type 1, an autosomal dominant disorder with prevalence of 1 per 3000 people, has clinical features of cafe au lait spots in skin, multiple neurofibroma and dysplasia in skeletal, endocrinal, and blood vessel systems. Actual intraoral neurofibromas are known to occur in 25% of patients. A 9 year-old girl diagnosed with type 1 neurofibromatosis visited our hospital with chief complaint of gingival swelling. Gingival enlargement in lower anterior region existed and cafe au lait spots were confirmed in patient' skin. Enlarged gingival tissue were excised under local anesthesia. Neurofibroma was confirmed with biopsy. Clinical examination after months showed fine recovery without any evidence of recurrence. Due to its possibility of recurrence, periodic follow-up will be needed.

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

• Childhood Kidney Diseases
• /
• v.17 no.2
• /
• pp.143-148
• /
• 2013

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder, which can affect different organs or systems of the body, including the cardiovascular system. One of the more serious aspects of the disease relates to arterial involvement. In particular, renal artery stenosis is one of the most common vascular abnormalities in patients with NF-1, and the manifestations vary, ranging from no symptoms to end-stage renal failure. Treatment usually consists of antihypertensive drugs, percutaneous transluminal angioplasty, or surgery. Other causes of hypertension should be ruled out and the patient followed up for close monitoring and proper management. We report a case of bilateral renal artery stenosis and hypertension in a patient with moyamoya disease associated with neurofibromatosis type 1. This report discusses the literature available on the current subject, its clinical features, diagnosis, and treatment.

• Clinical and Experimental Pediatrics
• /
• v.48 no.1
• /
• pp.93-96
• /
• 2005

Neurofibromatosis type I is an autosomal dominant disorder with varied manifestations in bone, soft tissue, the nervous system and skin. This is characterized by cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma, bony displasia, and intertriginous freckling. One of the more serious aspect of the disease relates to the arterial involvement. Vascular changes in neurofibromatosis may occur in any arterial tree from the proximal aorta to the small arteries but these changes are most common in the renal arteries, aorta, celiac arteries and mesenteric arteries. Of the many complications observed in neurofibromatosis type I, cerebrovascular lesions may be the least appreciated. About 40 cases of neurofibromatosis type I associated with occlusive cerebrovascular disorders have been reported in the literature, but MRI and angiographic findings typical of moyamoya disease are rarely described. We experienced a case of moyamoya disease associated with neurofibromatosis type I in a 3-year-old girl who of complained gait disturbance and paraparesis and showed findings typical of moyamoya disease on MRI and carotid angiogram.

• The Journal of the Korean bone and joint tumor society
• /
• v.11 no.1
• /
• pp.105-109
• /
• 2005

This journal reports three cases diagnosed with schwannomatosis in which no clinical symptoms of type 2 neurofibromatosis. The chief complain was pain. In adolescence and adult group, all masses were found. The locations were brachial plexus, popliteal fossa and hand. No hearing impairment, vertigo, tinnitus and visual disturbance was observed in any of the case. Family history was negative. In all cases, there was no evidence of vestibular schwannoma on cranial MRI imaging study. In all cases, Tinel sign was positive. Pathologic diagnosis was positive for schwannoma. Further study and case collection is needed to idenity the clinical manifestation, clinical course and genetic characteristic of schwannomatosis.