Cases reported "Neurofibromatosis 1"

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1/19. forearm pseudarthrosis--neurofibromatosis: case report.

    A 3 1/2-year-old white girl with neurofibromatosis sustained left radius and ulna fractures. The radius was sclerotic with no medullary canal at the fracture site, and the ulna was hypoplastic distal to the fracture. The fractures failed to unite when immobilized in a long arm plaster cast for 5 months and pseudarthrosis developed. Three subsequent operative attempts to obtain union of the pseudarthrosis by means of internal fixation and bone grafting over the next 30 months were also unsuccessful, and the pseudarthrosis persisted. The forearm was supported in a custom molded leather brace until the child was 13 1/2 years old and had reached skeletal maturity. Osseous union was then operatively obtained using dual onlay tibial cortical and cancellous bone grafts. There has been no recurrence of the pseudarthrosis 3 years and 2 months after bone grafting. The author recommends postponing surgical attempts to achieve union of the forearm bone pseudarthrosis associated with neurofibromatosis until the patient reaches skeletal maturity.
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ranking = 1
keywords = tibia
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2/19. An anterior tibial artery aneurysm in a patient with neurofibromatosis.

    Von Recklinghausen's Type 1 neurofibromatosis (NF) is a genetic disorder of neuroectodermal tissue. Arterial involvement has also been recognized. Stenotic lesions predominate, but aneurysms have been documented as well. Aortoiliac, visceral, and cervical aneurysms are well represented in the literature. Rarely noted, however, have been peripheral aneurysms. Typically in more proximal vessels, subclavian, femoral, and popliteal aneurysms have been mentioned. We present the case of a patient with type 1 NF and an anterior tibial artery aneurysm that was subsequently resected. neurofibromatous invasion of the vessel was confirmed by means of pathological tests. We think this is the first reported case of a tibial artery aneurysm associated with NF.
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ranking = 6
keywords = tibia
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3/19. epidermodysplasia verruciformis associated with neurofibromatosis type 1: coincidental association or model for understanding the underlying mechanism of the disease?

    We describe a 25-year-old man with epidermodysplasia verruciformis (EV) associated with neurofibromatosis type 1 (NF1). The lesions, persisting for more than 15 years, consisted of widespread planar warts on the backs of the hands and wrists, and reddish-brown macules on the trunk, neck and face. During the last 5 years, our patient developed several epithelial tumours, namely solar keratoses, plaques of bowen's disease and squamous cell carcinomas (SCCs). He also presented with NF1 lesions with neurofibromas, cafe-au-lait macules, axillary freckling and Lisch nodules. He had left tibial bowing. polymerase chain reaction analysis of the skin lesions demonstrated the presence of human papillomavirus (HPV) 15 in a flat wart, HPV 20 in a plaque of bowen's disease, and HPV 15 and HPV 20 in an SCC lesion. Both EV and NF1 show an inherited predisposition to malignancy but the molecular mechanism underlying tumour development is not fully understood. The appearance of both diseases in our patient may be a coincidental association but may also contribute to the identification of loci for susceptibility to NF1 and EV on chromosome 17.
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ranking = 1
keywords = tibia
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4/19. leiomyosarcoma in peripheral nerve: the first case report.

    A neoplasm of the peripheral nerves can be obscured, especially during the early phase. The authors report a patient with sciatic nerve leiomyosarcoma. The patient's presentation and initial management are unique. A 51-year-old man with clinical manifestations of von Recklinghausen's disease reported numbness and weakness of the left leg for one and a half years. The symptoms gradually progressed. The symptoms were consistent with peripheral neuritis. The patient developed foot drop one month before coming to our service. Two episodes of biopsy confirmed leiomyosarcoma. A long, large sciatic nerve leiomyosarcoma was found intra-operatively, positioned from the upper thigh to the point where the tibial nerve passes beneath the upper margin of the soleus muscle. Surgical resection was done and confirmed the diagnosis. Decreased sensation was still intact after resection.
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ranking = 1
keywords = tibia
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5/19. hamartoma involving the pseudarthrosis site in patients with neurofibromatosis type 1.

    Congenital pseudarthrosis is a rare disease with variable clinical effects. The disease remains 1 of the most controversial pediatric entities in terms of etiopathogenesis, therapy, and prognosis. Between 0.5% and 2.2% of patients with neurofibromatosis demonstrate pseudarthrosis in any of the long bones. The exact origin of the lesion is even unclear; although several attempts have been made to determine the type of tissue involving the pseudarthrosis site, only fibrous tissue has been documented in different reports. We present 2 unrelated Mexican patients (male and female) with familial neurofibromatosis and congenital pseudarthrosis of the tibia and fibula. Histochemical and immunostain studies after surgical resection of the affected ends from the pseudarthrosis site of both patients showed a picture compatible with hamartoma. This is the first time when histologic evidence of hamartomatous tissue involving the pseudarthrosis site is presented.
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ranking = 1
keywords = tibia
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6/19. Malignant triton tumor of the pelvis in a 2-year-old boy.

    We report a 2-year-old boy who had a family history of neurofibromatosis, multiple cafe-au-lait spots on the trunk, tibial pseudarthrosis, and was diagnosed with a malignant triton tumor of the pelvis. To our knowledge our case is one of the youngest patients reported with a malignant triton tumor and the second pediatric case with a pelvic malignant triton tumor.
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ranking = 1
keywords = tibia
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7/19. Vasculopathy in two cases of NF1-related congenital pseudarthrosis.

    Neurofibromatosis type 1 (NF1) is a common dominantly inherited disease. More than half of NF1 patients suffer from skeletal manifestations, of which congenital pseudarthrosis of tibia (CPT) is one of the most incapacitating lesions. Two NF1 patients with CPT were operated, and the resected tissues were analyzed using immunohistochemistry and/or in situ hybridization for NF1 protein and mRNA, p-p44/42 MAPK, and S100 protein. Both patients displayed thick-walled arteries and veins with a small lumen within the fibrotic tissue in the vicinity of pseudarthrosis. endothelial cells were highly positive for p-p44/42 MAPK. A subpopulation of cells surrounding the blood vessels was S100 protein-positive. However, the exact identity of the S100-positive cells remains to be elucidated. Neurofibromin mRNA and protein labeling was detected in both cell types. In conclusion, decreased NF1 function as a RAS-GAP in the endothelium may contribute to vascular thickening in CPT.
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ranking = 1
keywords = tibia
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8/19. Prophylactic bypass grafting of the prepseudarthrotic tibia in neurofibromatosis.

    Nine cases of prophylactic bypass grafting of the prepseudarthrotic tibia in neurofibromatosis were reviewed. The age at operation ranged from 0.9 to 9.2 years. The graft used was variously the opposite tibia, autograft rib, allograft fibula, and allograft bone chips in combination with autograft or allograft. All patients were braced postoperatively. Follow-up ranged from 2.9 to 18.8 years. Allograft bone chips resorbed in every case. All autografts and the one fibular allograft united with the tibia. Three tibias required further procedures to obtain union after development of pseudarthrosis, whereas six remained intact.
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ranking = 8
keywords = tibia
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9/19. Angular deformities of the tibia in children: a review of three cases.

    Children born with prominent bowing of the tibia are an obvious concern to parents and physicians. Managing these congenital angulations requires early and accurate diagnosis. classification is based on the direction of the angulation and its associated pathology. The three basic classes of tibial angulations commonly accepted are based on the work of Heyman and Herndon. The success of treating these children depends on the type and severity of the angulation. This article presents three cases of tibial bowing and describes the treatment and prognosis of each.
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ranking = 7
keywords = tibia
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10/19. Vascularized fibular grafting for the treatment of congenital pseudarthrosis of the tibia.

    Six patients with congenital pseudarthrosis of the tibia were treated with vascularized fibula transplantation after the abnormal pseudarthrosis site had been radically debrided. At the time of surgery, the patients' ages ranged from 18 months to 5.5 years, and follow up was from 9 months to 4.5 years. All the fibular transplants healed and the patients were all fully weight bearing in a brace 6-months postoperatively. Age at fracture or surgery, site of the fracture, or radiographic appearance were not contraindications to the use of this technique. Although three of the patients required one further operation, the short- and long-term problems have been relatively minor. This technique has proven successful in managing many resistant patients with this difficult orthopedic problem.
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ranking = 5
keywords = tibia
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