Neurofibromatosis: chronological history and current issues

Antônio, Joäo Roberto; Goloni-Bertollo, Eny Maria; Trídico, Lívia Arroyo

doi:10.1590/abd1806-4841.20132125

Cited by 41 publications

(45 citation statements)

References 97 publications

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“…Neurofibromas are benign peripheral nerve tumors, formed by a wide range of cells and its processes including Schwann cells, perineural cells, and axonal processes [5]. They can occur either as sporadic lesions, such as our reported case, or part of a disease process called neurofibromatosis.…”

Section: Discussionmentioning

confidence: 75%

Post Traumatic Diffuse Neurofibroma in the Foot: An Unusual Presentation

Nasser¹,

Alsaad²,

Awad³

et al. 2018

TOORTHJ

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Background: Neurofibromas are benign peripheral nerve sheath tumors that present as solitary or multiple lesions. They can present alone or as part of the disease process called neurofibromatosis type 1. The etiology behind solitary neurofibromas is still poorly understood, however, trauma has been proposed to be a possible cause. Methods: We present a rare case of a 23-year-old male, without any known medical history, who fell and injured his left foot 3 years prior to presentation. He was treated conservatively at that time and presented to Bahrain Defence Force hospital complaining of a progressive painless swelling in his left forefoot post trauma. Results: The patient underwent imaging studies, which misdiagnosed the lesion as a possible lymphangioma, haemangioma, or a chronic inflammatory swelling. An excisional biopsy was taken, and the pathology specimen proved the lesion to be a diffuse neurofibroma. Conclusion: Trauma may possibly be a predisposing factor behind the development of solitary diffuse neurofibromas in patients that are not known to have neurofibromatosis. Further studies should be conducted to prove whether or not trauma is a predisposing factor for the development of solitary neurofibromas.

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Section: Discussionmentioning

confidence: 75%

Post Traumatic Diffuse Neurofibroma in the Foot: An Unusual Presentation

Nasser¹,

Alsaad²,

Awad³

et al. 2018

TOORTHJ

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“…Benign peripheral nerve tumors have been mentioned in the medical literature since the 13 th century [3]. But the definite clinical description was provided only in 1882 by von-Recklinghausen who named these tumors as 'neurofibromas' due to their origin from the peripheral nerve sheath and described the most well-known neurocutaneous syndrome in medical history-'von-Recklinghausen disease' or 'Neurofibromatosis-1ʹ (NF-1) [4].…”

Section: Discussionmentioning

confidence: 99%

‘Adrenal rush’ in a patient with Neurofibromatosis-1

Khan

Fayyaz

Patel

2020

Journal of Community Hospital Internal Medicine Perspectives

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Neurofibromatosis-1 (NF-1) is a genetic neuro-cutaneous disorder that is associated with an increased prevalence of pheochromocytoma (PHEO). However, this association may not be commonly anticipated by physicians, as patients may be normotensive. In addition, NF-1 patients can be asymptomatic and/or normotensive. These factors can result in a delayed or missed diagnosis of pheochromocytoma leading to catastrophic complications. Currently, it is recommended to perform annual blood pressure monitoring in patients with NF-1 and to test for pheochromocytoma only if found to be hypertensive. However, recent studies show that this practice may lead to underdiagnosis of pheochromocytoma. Therefore, suggesting routine biochemical testing for pheochromocytoma in all patients with NF-1. In this case report, we discuss the factors which can lead to a delayed diagnosis of pheochromocytoma in a patient with known NF-1 and hypertension.

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“…Therefore, how to manage the fusion failure is a challenge for kyphosis correction in NF-1. It is well known that NF-1 affects bone quality (osteoporosis) and quantity (vertebral body dysplasia) [18]. It is extremely di cult to place stable anchors where there are severe dystrophic changes in the cervical spine [19,20].…”

Section: Discussionmentioning

confidence: 99%

Continuous Incremental Heavy Halo Traction Combined with Posterior-only Approach for Severe Cervical Kyphosis with Neurofibromatosis-1.

Guo

Author)

Zhou

et al. 2019

Preprint

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Background Surgical management of cervical kyphosis in patients with NF-1 is a challenging task. Presently, anterior-only (AO), posterior-only (PO) and combined anterior-posterior (AP) spinal fusion are common surgical strategies. However, the choice of surgical strategy and application of Halo traction remain controversial. Few studies have shown and recommended posterior-only approach for cervical kyphosis correction in patients with NF-1. The aim of this study is to evaluate the safety and the effectiveness of Continuous-Incremental-Heavy Halo Traction (CIH-HT) combined with posterior-only approach for treatment of cervical kyphosis with NF-1. Methods 19 patients with severe cervical kyphosis due to NF-1 were reviewed retrospectively between January 2010 and April 2017. All the cases underwent CIH-HT combined with posterior instrumentation and fusion surgery. Correction result, neurologic status and complications were analyzed. Results In this study, cervical kyphosis Cobb angle decreased from initial 63.0 ± 21.0 degrees to postoperative 10.8 ± 4.0 degrees(P＜0.01),with total correction rate of 92%, which consist of 44% from CIH-HT and 48% from surgical correction. JOA scores were improved from preoperative 13.6±1.6 to postoperative 16.0±1.0(P＜0.01). Neurological status was also improved. There was no correction loss and the neurological status was stable in mean 3.7 years follow-up. The incidence of complications was 36.8% (7/19). Six patients underwent local complications and one patient underwent a second surgery. Conclusion CIH-HT combined PO approach is safe and effective method for cervical kyphosis correction in patients with NF-1. A satisfied correction result, and successful bone fusion can be achieved via this procedure, even improvement of neurological deficits can also be obtained. Our study suggested that CIH-HT combined PO approach is another consideration for cervical kyphosis correction in patients with NF-1. Key words : Neurofibromatosis-1; Cervical kyphosis; Continuous-Incremental-Heavy Halo Traction; posterior-only approach;

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Neurofibromatosis: chronological history and current issues

Cited by 41 publications

References 97 publications

Post Traumatic Diffuse Neurofibroma in the Foot: An Unusual Presentation

Post Traumatic Diffuse Neurofibroma in the Foot: An Unusual Presentation

‘Adrenal rush’ in a patient with Neurofibromatosis-1

Continuous Incremental Heavy Halo Traction Combined with Posterior-only Approach for Severe Cervical Kyphosis with Neurofibromatosis-1.

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