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Background: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease caused by mutation on chromosome 17, which affects the skin, vascular system, nervous system, and skeleton system. Arteriovenous fistula (AVF) is one of the recognized complications of NF-1., Case Description: We report a case of a 33-year-old woman with NF-1 with cervical spine AVF inside the cervical spinal canal who presented with progressive spinal cord compression which was abnormal. After sufficient preparation, the patient underwent vascular embolization, and then symptoms of spinal cord compression significantly improved., Conclusions: This report reminds readers of the possibility of AVF if there is a space-occupying lesion inside the cervical spinal canal and to do computed tomography angiography examination when necessary., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Purpose: To assess the clinical outcome of anterior correction and reconstruction for severe cervical kyphotic deformity due to neurofibromatosis type 1 (NF-1)., Methods: In this study, we reviewed a series of seven patients who underwent anterior procedures for correction of NF-1-associated cervical kyphotic deformity. After continuous preoperative skull traction, all patients received anterior corpectomy and fusion (ACCF), anterior discectomy and fusion (ACDF), or combined ACCF and ACDF for surgical correction and reconstruction. Pre- and postoperative local and global Cobb angles, correction rate, sagittal vertical axis (SVA), and T1-slope were assessed by X-ray. Japanese Orthopaedic Association (JOA) score, JOA recovery rate, visual analog scale (VAS), and Neck Disability Index (NDI) scores were recorded to assess the outcome., Results: Kyphosis was corrected successfully in all patients in terms of local and global Cobb angles (P < 0.05), with a correction rates of 83.1% (range, 66.0 to 115.5%) and 88.6% (range, 61.1 to 125.0%), respectively. JOA scores of patients were improved from preoperative 10.4 (range, 6 to 14) to postoperative 15.4 (range, 14 to 17), with a recovery rate as 77.6% (range, 66.7 to 100%). NDI scores were reduced from preoperative 25.1 (range, 13 to 35) to postoperative 8.7 (range, 5 to 12). VAS scores were reduced from preoperative 7.0 (range, 4 to 9) to postoperative 2.3 (range, 1 to 3)., Conclusion: This study has demonstrated that anterior correction and reconstruction is an alternative option for the treatment of NF-1-associated severe cervical kyphosis when deformity is localized, flexible, or fixed.

Study Design: This is a retrospective cohort study., Objective: To investigate surgical outcomes and instrumentation-related complications (IRCs) of dystrophic scoliosis associated with neurofibromatosis type 1 (NF-1)., Summary of Background Data: Surgical management, including the growing rod technique and early definitive fusion, has been recommended to avoid progression of NF-1 scoliosis. However, no study has investigated the outcomes and complications of different surgical interventions., Materials and Methods: We performed a retrospective review of a cohort of 59 patients diagnosed with NF-1 dystrophic scoliosis and treated surgically. All clinical and radiographic data within a 3-year follow-up period were collected. The patients were divided into 2 groups according to the surgical procedure used: those who underwent initial fusion surgery were assigned to group A (n=32) and those who underwent growing rod surgery to group B (n=27)., Results: Patients in group A were older than those in group B at the initial surgery (10.4 vs. 5.8 y; P<0.001). There was no difference in the sex ratio, preoperative Cobb angle, or preoperative kyphosis angle between the 2 groups (P>0.05). The correction rate of the main curve Cobb angle was higher in group A than B (55.1% vs. 42.4%; P<0.05). The incidence of IRC was higher in group B than A (48.1% vs. 12.5%; P<0.05). Complications in group A comprised 1 case of screw pullout, 1 case of rod breakage, 1 case of adding-on phenomenon, and 1 case of proximal junctional kyphosis. Complications in group B comprised 5 cases of adding-on phenomenon, 4 cases of trunk shift, 3 cases of curve progression, 1 case of rod breakage, and 1 case of cap loosening., Conclusions: The use of growing rod effectively controls the spinal deformity and facilitates growth of the spine. Compared with fusion surgery, however, growing rod surgery yields a higher incidence of IRCs and lower corrective rate for scoliosis associated with NF-1.

Aim: To determine the optimal surgical approach in patients with abdominal and retroperitoneal manifestations of Recklinghausen's disease., Material and Methods: There were 4 patients (3 women and 1 man) with neurofibromatosis type I who were treated at Vishnevsky National Medical Research Center of Surgery., Results: There were 3 robot-assisted procedures: excision of retroperitoneal tumors (plexiform neurofibroma and schwannoma) in 2 cases and right adrenal pheochromocytoma in 1 patient. We also included 1 clinical case of conventional surgery for neurofibromatosis type I followed by multiple gastrointestinal stromal duodenal and intestinal tumors. In one case, postoperative period was complicated by fluid accumulation in the bed of previously removed tumor that required US-assisted drainage. Postoperative period was uneventful in other cases., Conclusion: Robot-assisted surgery is safe and effective in patients with Recklinghausen's disease followed by single abdominal and retroperitoneal tumors. It is more expedient to choose conventional technique for multiple tumors located in different parts of retroperitoneal space or abdominal cavity.

Neurogenic sacral tumors are extremely rare. In most reported cases, this pathology was associated with neurofibromatosis. Sacral tumors manifest themselves at the stage when the neoplasm volume becomes giant, but these manifestations usually go unnoticed for the patient. Surgical approach to the sacral region is extremely challenging; intimate proximity of tumor capsule to vital organs, vessels, and nerves makes radical surgical treatment of these neoplasms rather difficult. A case report of radical resection of a schwannoma that was destroying the sacrum and continued to grow after radiotherapy is presented in this article.

Study Design: Analysis of a national database., Objective: To analyze trends in spinal fusion surgery for neurofibromatosis type I (NF-1) patients and to compare the surgical approaches., Summary of Background Data: The preferred surgical approach for fusion treatment of spinal deformity in NF is not well established., Methods: We identified 548 patients with a diagnosis of NF-1 who had received spinal fusion surgery between 2003 and 2014. We compared posterior spinal fusion (PSF), anterior-posterior spinal fusion (APSF), and anterior spinal fusion with respect to patient demographics, institutional characteristics, in-hospital complications, and hospitalization lengths and costs. Significance was set at a value of p less than .05., Results: The number of spinal fusions for NF-1 significantly increased (p = .02) over the study period. The rate of PSF surgeries increased 2.9-fold, whereas the rate of APSF surgeries decreased 2.2-fold. There was also a significant association between the location of the fusion and surgical approach (p<.01), with 66% of ASF cases being cervical spine cases. Compared with patients undergoing PSF and ASF, patients undergoing APSF were significantly younger (p<.01) and had significantly higher hospitalization lengths and costs (p<.01). APSF costs were $180,714 as compared to $144,027 for PSF and $105,312 for ASF., Conclusions: There have been significant increases in the rate of spinal fusion surgeries for NF-1 patients. Surgical treatment has shifted over the years and is dependent on the location of the deformity. Patients undergoing APSF are significantly younger., Level of Evidence: Level III., (Copyright © 2018 Scoliosis Research Society. Published by Elsevier Inc. All rights reserved.)

Background: Neurofibromatosis (NF) is an autosomal dominant genetic disorder, and NF type 1 (NF1) is one of the most common forms. Plexiform neurofibroma (PNF) is one of the characteristic expressions of NF1. The proper treatment for patients with craniofacial PNF is surgery. The evaluation methods for the surgical outcome of these patients are still controversial. As a consequence, a one-stage surgical technique and an appropriate evaluation method for patients with craniofacial PNF were discussed in this article., Methods: This research is a retrospective study. Nine patients with craniofacial PNF were included in this study. They had undergone a one-stage surgical technique of tumor debulking and nasolabial fold reconstruction. Three methods had been applied to evaluate the surgical outcome., Results: Significant improvement was observed in 8 patients. Eight patients were assessed by the relatively objective evaluation method. Obvious symmetry improvement was calculated using Mimics software in 7 patients., Conclusion: The surgical technique could achieve good surgical outcomes in both functional and cosmetic terms. Additionally, the relatively objective evaluation technique based on Mimics software could be a more convincing method for evaluating the surgical outcomes of craniofacial patients with PNF.

Background: Sphenoid wing dysplasia in patients with neurofibromatosis type 1 may result in challenging and significant changes, including ultimately vision loss. The authors describe the radiographic patterns of sphenoid dysmorphology with time and age, and the impact of surgical intervention on preservation of vision., Methods: A retrospective study was performed at a single pediatric hospital, identifying subjects with neurofibromatosis type 1. Records were reviewed in their entirety for each subject, with attention to ophthalmologic evaluation. Radiographic images were digitally analyzed and scored for sphenoid transformations on a grade of 0 to 3., Results: Fifty-two subjects were identified. On initial imaging, 42.31 percent had a normal sphenoid (grade 0), 32.69 percent had an abnormal contour (grade 1), 11.54 percent had thinning (grade 2), and 13.46 percent had a gross defect (grade 3). Among the 45 subjects with serial imaging, 55.56 percent demonstrated progression of the deformity of at least one grade. Deformity progression correlated with length of imaging interval. Enucleation was noted to occur more often in subjects with a gross sphenoid defect (p < 0.0001). Of subjects identified as having a gross sphenoid defect, 26.7 percent were managed using orbitosphenoid reconstruction with titanium mesh and cranial bone graft, and 33.3 percent were managed with soft-tissue debulking and canthopexy only. Vision was more likely to be preserved with early orbitosphenoid reconstruction (p < 0.05)., Conclusions: Sphenoid dysplasia is a progressive disease. Loss of vision is associated with a gross defect, and appears to be better preserved with early orbitosphenoid reconstruction with titanium mesh and cranial bone graft.

Background: Severe cervical kyphosis in the setting of neurofibromatosis type 1 (NF1) is a rare manifestation of the disease in the pediatric population. Dystrophic and immature bone complicate the placement of hardware necessary for surgical correction of alignment and a review of the literature yields 4 cases of pediatric patients with NF1 requiring surgical intervention in which the youngest patient was 10 yr old., Objective: To report the case of an 11-mo-old female with NF1 who presented with a plexiform cervical neurofibroma and focal cervical kyphosis. A comprehensive review of the literature and a detailed description of nonsurgical and surgical management for this patient population is described., Methods: A literature review was completed for article reviewing management of pediatric patients with cervical spine injuries and NF1. The patient's chart was reviewed and the patient was followed for a year to provide adequate follow-up. Institutional Review Board (IRB)/ethics committee approval and patient consent were neither required nor sought for this study., Results: The literature was reviewed, summarized, and utilized for operative planning and postoperative management. Postoperative imaging and 1-yr follow-up imaging showed anterior construct and lateral mass fusion, restoration of cervical alignment, and no neurological deficits., Conclusion: This is the youngest reported patient to have surgical cervical kyphosis correction in the setting of NF1. A review of the literature helped develop a long-term plan and shape a novel same-day front-back-front approach to restore alignment that will be of use to teams managing these complex patients in the future.

Objective: To compare outcomes of anterior-only (AO), posterior-only (PO), and anteroposterior (AP) surgical approaches for treatment of dystrophic cervical kyphosis in patients with neurofibromatosis 1 (NF1)., Methods: This retrospective observational study included 81 patients with dystrophic cervical kyphosis secondary to NF1. Length of kyphosis, duration of halo traction, Cobb angle, C2-7-sagittal vertical axis (SVA), T1 slope, Neck Disability Index score, and postoperative complications were evaluated before and, if possible, after each surgical approach., Results: AP approach provided the best outcomes (average spinal Cobb angle was corrected from 61.2 ± 9.1° to 5.7 ± 3.2°, P < 0.05); there was no significant difference between AO and PO approaches (P > 0.05). With regard to cervical sagittal balance, AP approach had the most improvements of C2-7-SVA (mean C2-7-SVA was corrected from 3.2 ± 9.2 mm to 12.8 ± 2.6 mm, P < 0.05); the difference between AO and PO approaches was not significant (P > 0.05). T1 slope results were similar to C2-7-SVA. Neck Disability Index score of all patients improved significantly after surgery (P < 0.05); specifically, patients who had an AP approach constituted the largest portion of the satisfied patient group. Postoperative junctional kyphosis occurred in 11 patients (1 AP approach, 6 AO approach, 4 PO approach); these findings correlated with patients with ≤5 fused segments., Conclusions: AP approach surgery provided the best correction of dystrophic cervical kyphosis and sagittal balance for patients with NF1. Patients undergoing an AP approach were more satisfied with their outcomes. Junctional kyphosis can be prevented effectively using an AP approach in patients with >5 fused segments., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Neurofibromatosis type 1 is an autosomal dominant inherited disease, which is characterized by the presence of multiple neurofibromas. We encountered a case in which a sporadic dispersed neurofibroma recurred locally on numerous occasions extending over 16 years. The patient developed multiple masses with a focus of neurofibroma on the right lower limb, which were excised. The patient was initially diagnosed with inflammatory changes via computed tomography and magnetic resonance imaging; however, subsequently, pathological and immunohistochemical examinations revealed an intraneural neurofibroma. The patient underwent a comprehensive and complete local resection several times. After a continuous postoperative follow-up strategy, the patient recovered well. This report describes a case of primary manifestations of multiple and recurrent neurofibromas. We aim to emphasize the possibility of a unique, recurrent, non-healing neurofibroma and review the diagnostic techniques utilized to reach a definitive diagnosis. Early and complete surgical resection is an effective method to treat and prevent this type of neurofibroma.

Purpose: To present the case of a patient who developed spontaneous closure of an idiopathic macular hole after four failed attempts at surgical closure., Methods: This is a retrospective case review of the medical record of a single patient. No statistical analysis was performed. The patient is a 71-year-old white woman with neurofibromatosis Type 1 who presented to the retina clinic of one of the authors., Results: The patient underwent four vitrectomies with long acting gas by two surgeons over the course of 2 years. After each surgery, the hole either did not close or it closed and then reopened within 1 year. Five months after the last surgery (1 year after the hole last reopened), the patient presented with improved vision and spontaneous closure of the macular hole. The hole has remained closed since then., Conclusion: This case demonstrates that spontaneous closure of a macular hole, associated with excellent visual recovery, can occur after multiple surgical failures. We propose that enhanced scar formation due to neurofibromatosis Type 1 was responsible for both the numerous failures following initially successful surgery (centrifugal traction) and for the spontaneous closure (centripetal traction).

Abdominal ultrasonography revealed a low echoic mass in the upper abdomen of a 65-year-old man. He was referred to our department, where abdominal CT revealed a tumor with a 30-mm contrast effect on the distal side of the inferior part of the duodenum. Endoscopy revealed a submucosal tumor in the same region, and ultrasonic endoscopy showed a low echoic mass with a clear boundary derived from the muscle layer. The duodenum was partially resected based on a diagnosis of suspected gastrointestinal stromal tumors (GIST), and the skin tumor was simultaneously resected. An elastic, soft, 30-mm tumor mass was found in the upper duodenum during surgery, and small nodules of 3-5mm were identified throughout the 110-cm length of the jejunum at intervals of 20-30cm. The histopathological diagnosis was GIST and immunostaining showed the mass to be c-kit and CD34 positive. We diagnosed the skin tumor as a neurofibroma (von Recklinghausen disease). Mutational analysis of c-kit in the resected specimen showed no mutation, therefore suggesting that imatinib would not be effective. Since the nodules remaining in the small intestine might also be GIST, we established a policy of regular imaging assessments.

Neurofibromatosis 1 (NF1) is associated with increased incidence of spinal tumors including neurofibromas. The majority of NF1-associated spine neurofibromas are asymptomatic; however, a minority of patients will experience neurologic symptoms that can range from mild paresthesia, radiculopathy, myelopathy, and focal weakness to quadriplegia in extreme cases. We present a 21-year-old male diagnosed with NF1 in infancy and followed for multiple mirror-image neurofibromas involving the entire spine. He was asymptomatic until age 14 when he developed neck pain and progressive tetraplegia with magnetic resonance imaging showing severe cord compression secondary to bilateral C2 neurofibromas. Emergent cervical decompression was performed at C1-C3 along with debulking of bilateral neurofibromas. Postoperatively he regained full strength with no signs of myelopathy several years postoperatively. This case demonstrates a dramatic neuroimaging finding and emphasizes the potential for significant neurologic deterioration in previously asymptomatic NF1 patients, highlighting the need for long-term follow-up., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by a mutation on chromosome 17. Vascular abnormalities are recognised complications of NF1. These include aneurysms, stenoses, arteriovenous malformations, fistulae, etc. We report the case of a young gentleman with NF1 with a spontaneous cervical bleed from an arteriovenous fistula arising from the left vertebral artery, and illustrate the various management options and difficulties arising from rapid fistula formation.

Background: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms., Methods: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016., Results: Eighty-one patients underwent pheochromocytoma/paraganglioma resection (multiple endocrine neoplasia type 2A, n = 36; neurofibromatosis type 1, n = 26; von Hippel-Lindau disease, n = 19). Tumor size differed across groups; patients with neurofibromatosis type 1 and von Hippel-Lindau disease had the largest tumors (P = .017). Larger tumor volumes correlated with higher urine 24-hour total metanephrine (r = 0.94, P < .001; r = 0.67, P = .033; and r = 0.89, P < .001 for multiple endocrine neoplasia type 2A, von Hippel-Lindau disease, and neurofibromatosis type 1, respectively). High adrenergic secretion (24-hour urine metanepinephrine) was found in neurofibromatosis type 1 (median, 861 μg/24 h), similar to that found in multiple endocrine neoplasia type 2A (median, 809 μg/24 h). The highest noradrenergic secretion (24-hour urine normetanephrine) occurred with von Hippel-Lindau disease (median, 4,598 μg/24 h), followed by neurofibromatosis type 1 and multiple endocrine neoplasia type 2A (median, 1,607 and 923 μg/24 h, respectively). The highest graded complications occurred among patients with neurofibromatosis type 1 (P = .036). However, when comparing postoperative outcomes across 3 groups in those who had laparoscopic resection, there was no significant difference (P = .955)., Conclusion: Patients with neurofibromatosis type 1 had the most volatile intraoperative hemodynamic course and more severe postoperative complications. These complications are related to large tumors associated with abundant catecholamine secretion and the fact that a high proportion underwent open resection. Among only patients who underwent laparoscopic procedures, there were no differences in postoperative outcomes across syndromic groups., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background: Hydrocephalus in patients with neurofibromatosis (NF) type 1 is usually obstructive and may arise secondary to tumoral or nontumoral causes. Treatment of hydrocephalus in these patients is often challenging owing to combined pathologies and unique anatomic changes. The use of endoscopic third ventriculostomy (ETV) as treatment has rarely been described in this group. We aimed to characterize indications, considerations, and outcome of ETV in patients with NF 1 gathered in a multicenter international cohort., Methods: Five centers participated in this retrospective study. Following institutional review board approval, data and images were collected. Patients of all ages with NF 1 who underwent ETV for treatment of obstructive hydrocephalus were included. Patients who had no postoperative radiologic or clinical follow-up were excluded. ETV failure was defined as recurrent clinical or radiologic signs of hydrocephalus., Results: The study included 42 patients. Common etiologies for hydrocephalus were aqueductal/tectal tumor (31%), aqueductal web (26%), and aqueductal stenosis owing to NF-related changes (14%). Ten patients had a preoperative diagnosis of optic pathway glioma. ETV failures were identified in 6 patients within 1 month, in 3 patients within 9 months, and in 1 patient within 4 years. ETV was successful in 32 patients (76%) with a mean follow up of 59.4 months ± 50.9 (range, 4 months to 15 years)., Conclusions: ETV is a safe treatment for selected patients with NF 1 and obstructive hydrocephalus. Individual anatomic and pathologic aspects should be taken into consideration., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Malignant peripheral nerve sheath tumors are rare soft tissue tumors accounting for 3% to 10% of all soft tissue tumors. They are strongly related to neurofibromatosis type 1, an autosomal dominant disease, and are characterized by aggressive biologic behavior, high local recurrence rates, and frequent metastases. Although the major nerves of the lower extremities are a common location of these tumors, scarce cases have been reported of malignant peripheral nerve sheath tumors involving the interdigital nerves of the foot. We report the case of a patient with non-neurofibromatosis type 1 and a recurrent malignant peripheral nerve sheath tumor of the first interdigital nerve of the foot treated successfully with limb salvage surgery with wide resection margins and reconstruction with an autogenous fibula graft., (Copyright © 2017 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.)

OBJECTIVE The aim of this study was to investigate how implant density affects radiographic results and clinical outcomes in patients with dystrophic scoliosis secondary to neurofibromatosis Type 1 (NF1). METHODS A total of 41 patients with dystrophic scoliosis secondary to NF1 who underwent 1-stage posterior correction between June 2011 and December 2013 were included. General information about patients was recorded, as were preoperative and postoperative scores from Scoliosis Research Society (SRS)-22 questionnaires. Pearson correlation analysis was used to analyze the associations among implant density, coronal Cobb angle correction rate and correction loss at last follow-up, change of sagittal curve, and apical vertebral translation. Patients were then divided into 2 groups: those with low-density and those with high-density implants. Independent-sample t-tests were used to compare demographic data, radiographic findings, and clinical outcomes before surgery and at last follow-up between the groups. RESULTS Significant correlations were found between the implant density and the coronal correction rate of the main curve (r = 0.505, p < 0.01) and the coronal correction loss at final follow-up (r = -0.379, p = 0.015). There was no significant correlation between implant density and change of sagittal profile (p = 0.662) or apical vertebral translation (p = 0.062). The SRS-22 scores improved in the appearance, activity, and mental health domains within both groups, but there was no difference between the groups in any of the SRS-22 domains at final follow-up (p > 0.05 for all). CONCLUSIONS Although no significant differences between the high- and low-density groups were found in any of the SRS-22 domains at final follow-up, higher implant density was correlated with superior coronal correction and less postoperative correction loss in patients with dystrophic NF1-associated scoliosis.

Neurofibromatosis Type 1 (NF1) is a neurocutaneous disorder that can have associated spinal abnormalities related to both bone and dural dysplasia. Thoracic meningoceles are one spine anomaly associated with NF1, although they are a fairly uncommon pathology. Surgical techniques to treat these meningoceles, usually undertaken only when the patient is symptomatic, are targeted at decreasing the size of the protrusion and improving lung capacity. Surgical interventions discussed in the literature include shunting the pseudomeningocele, primary repair with laminectomy, thoracoscopic plication, and reinforcement of the closure with cement, muscle, or fascia. Authors here report the case of a 43-year-old woman with NF1 with worsening pulmonary function tests and in whom shunting of the pseudomeningocele failed. Subsequently, a posterolateral thoracotomy was performed. The dura mater was reconstructed and primarily closed. On this closure a Gore-Tex soft-tissue patch was placed along with polypropylene mesh and Evicel fibrin sealant, followed by titanium mesh. At the end of the procedure, a chest tube was left in place and therapeutic pneumoperitoneum was performed to decrease the dead space as the lung did not fully expand with positive-pressure ventilation. The patient's pulmonary function tests improved after the procedure. Thoracic meningoceles are uncommon and difficult pathologies to treat surgically. Although shunting is arguably the least invasive surgical option, it can fail in some patients. When it does fail, there are other options that require a multidisciplinary approach and careful attention to the dural closure and reinforcing layers.

Background: Neurofibromatosis type 1 (NF1) is a rare disease with an incidence of 1 in every 3000 births. Numerous studies have focused on the main function of NF1 as a tumor suppressor, whereas few have examined the cerebrovascular abnormalities observed in patients with NF1. It is worth noting that intracranial aneurysms are uncommon in this condition., Case Description: We report a case of NF1 with a dissection of the distal segment of the superior cerebellar artery. A 36-year-old woman presented with a distal superior cerebellar artery (SCA) dissection causing subarachnoid hemorrhage. Subsequently, because of the rich collateral blood flow distal to the dissection, N-butyl cyanoacrylate (NBCA) glue embolization was unsuccessful. Therefore, direct trapping of the artery was necessary. The patient was discharged after an uneventful postoperative period, and has remained without complications., Conclusions: In the treatment of subarachnoid hemorrhage because of a distal SCA dissection in patients with NF1, NBCA glue embolization may be a safer option than microsurgery or coil embolization, in the acute phase, considering the possible vulnerability of the vessel wall, accessibility, morphology of the lesions, and the risk of developing unpredictable infarcts in the case of parent artery occlusion. However, regular reevaluation of the blood flow is necessary to monitor recurrence, given the rich collateral circulation., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Objectives: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1)., Methods: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period., Results: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant). As compared to the patients with no epilepsy, those with epilepsy were more likely to have MRI findings of mesial temporal sclerosis (MTS) (23% vs. 5%, p=0.0064), and cerebral hemisphere tumors (31% vs. 10%, p=0.0079), but not of the other MRI findings including neurofibromatosis bright objects, or optic gliomas. Three of the six patients with MTS underwent temporal lobectomy with subsequent control of their seizures with confirmation of MTS on pathology in 3/3 and presence of coexisting focal cortical dysplasia (FCD) in 2/3. We also have observed three additional patients outside the above study with the association of NF1, MTS, and intractable epilepsy., Significance: Epilepsy is relatively common in NF1, often occurs in patients with brain tumors or with MTS which can coexist with FCD, can be associated with multiple types of epilepsy syndromes, and when localization-related is often drug-resistant. Patients with NF1 and MTS can respond to medial temporal lobectomy and may have coexisting medial temporal lobe cortical dysplasia., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Rationale: Neurofibromatosis type I (NF-I) accounts for approximately 90% of neurofibromatosis. NF-I is an autosomal dominant genetic disease which results from the gene mutation of NF-I situated in chromosome 17q11.2., Patient Concerns: A 32-year-old lady presented with a giant wing like structure on her back which started growing from her childhood., Diagnosis: A diagnosis of NF-I was confirmed as she presented with multiple cutaneous nodules, multiple café-au-lait macules of different sizes, scoliosis deformity, and positive family history of neurofibroma., Interventions: Surgical excision of tumor and multiple Z plasty reconstruction of the back was carried out., Outcomes: The excised neurofibroma weighed 6.7 kg containing thickened nerves, nerve roots, and circuitous vessels. The histopathological report confirmed plexiform and diffuse type cutaneous neurofibroma without any malignant transformation. Surgical excision and reconstruction with regular follow-up is an excellent choice of treatment for such a giant neurofibroma as in this case., Lessons: NF-I is a genetic disease which could present as a giant cutaneous neurofibroma. One of the treatment options for giant neurofibromas causing deformity and physical disability is by surgical excision and histopathological examination with regular follow-up for NF-I recurrence.

Background: Tibial pseudoarthrosis is a source of considerable morbidity in children with neurofibromatosis. Preventing the progression of anterolateral bowing of the tibia (ALBT) to tibial pseudoarthrosis is difficult. The aim of this paper is to report the successful use of guided growth to prevent tibial pseudoarthrosis in a child with neurofibromatosis., Methods: With local ethical approval, we reviewed the case notes and radiographs of a child with pronounced ALBT who was treated with guided growth to correct the deformity and prevent fracture., Results: At 4-year follow-up guided growth has successfully corrected the deformity and prevented tibial pseudoarthrosis., Conclusions: This is the first report of the use of guided growth to prevent the progression of ALBT to pseudoarthrosis of the tibia in a child with neurofibromatosis., Level of Evidence: Level IV.

Purpose: Sphenoid bone dysplasia in neurofibromatosis type 1 is characterized by progressive exophthalmos and facial disfiguration secondary to herniation of meningeal and cerebral structures. We describe a technique for reconstruction of the sphenoid defect apt at preventing or correcting the ocular globe dislocation., Methods: After placement of spinal cerebrospinal fluid drainage to reduce intracranial pressure, the temporal pole is posteriorly dislocated extradurally. The greater sphenoid wing defect is identified. A titanium mesh covered by lyophilized dura, modeled in a curved fashion, is interposed between the bone defect and the cerebro-meningeal structures with its convex surface over the retracted temporal pole., Results: The particular configuration of the titanium mesh allows a self-maintaining position due to the pressure exerted by the brain over its convex central part with its lateral margins consequently pushed and self-anchored against the medial and lateral walls of the temporal fossa. Screw fixation is not needed. The technique utilized in four cases proved to be reliable at the long-term clinical and neuroradiological controls (6 to 19 years)., Conclusion: Sphenoid bone dysplasia in NF1, resulting in proptosis and exophthalmos, is usually progressive. It can be surgically repaired using a curved titanium mesh with the convexity faced to the temporal pole that is in the opposite fashion from all the techniques previously introduced. When utilized early in life, the technique can prevent the occurrence of the orbital and facial disfiguration.

Surgical management of severe rigid dystrophic neurofibromatosis (NF) scoliosis is technically demanding and produces varying results. In the current study, we reviewed 9 patients who were treated with combined anterior and posterior fusion using different types of instrumentation (i.e., pedicle screw, hybrid, and all-hook constructs) at our institute.Between September 2001 and July 2010 at our institute, 9 patients received anterior release/fusion and posterior fusion with different types of instrumentation, including a pedicle screw construct (n = 5), a hybrid construct (n = 3), and an all-hook construct (n = 1). We compared the pedicle screw group with the hybrid group to analyze differences in preoperative curve angle, immediate postoperative curve reduction, and latest follow-up curve angle.The mean follow-up period was 9.5 ± 2.9 years. The average age at surgery was 10.3 ± 3.9 years. The average preoperative scoliosis curve was 61.3 ± 13.8°, and the average preoperative kyphosis curve was 39.8 ± 19.7°. The average postoperative scoliosis and kyphosis curves were 29.7 ± 10.7° and 21.0 ± 13.5°, respectively. The most recent follow-up scoliosis and kyphosis curves were 43.4 ± 17.3° and 29.4 ± 18.9°, respectively. There was no significant difference in the correction angle (either coronal or sagittal), and there was no significant difference in the loss of sagittal correction between the pedicle screw construct group and the hybrid construct group. However, the patients who received pedicle screw constructs had significantly less loss of coronal correction (P < .05). Two patients with posterior instrumentation, one with an all-hook construct and the other with a hybrid construct, required surgical revision because of progression of deformity.It is difficult to intraoperatively correct dystrophic deformity and to maintain this correction after surgery. Combined anterior release/fusion and posterior fusion using either a pedicle screw construct or a hybrid construct provide similar curve corrections both sagittally and coronally. After long-term follow-up, sagittal correction was maintained with both constructs. However, patients treated with posterior instrumentation using pedicle screw constructs had significantly less loss of coronal correction.

Introduction: The object of this study is to understand abnormal dynamic of cerebrospinal fluid (CSF) in patients with neurofibromatosis type 1 (NF1), which may cause temporal lobe herniation and bulging of temporal fossa., Methods: Four patients, three females and one male, with NF1 were studied retrospectively. They presented with a similar craniofacial deformity, which consisted of pulsatile exophthalmos, an enlarged bony orbit, dysplasia of the sphenoid wing with the presence of a herniation of the temporal lobe into the orbit, and a bulging temporal fossa., Results and Discussion: Surgical exploration demonstrated abnormally thickened arachnoid membrane in one case. Protruding temporal lobe, which was one of the main symptoms in NF1 patients, could be stopped by control of intracranial pressure (ICP) via programmable ventriculoperitoneal shunt (VPS) or extra ventricle drainage implantation. The dense fibrosis of the arachnoid membrane and consequent altered hemispheric CSF dynamics may cause symptoms including pulsatile exophthalmos and consequent worsening of vision, prolapse of the temporal lobe, and enlargement of the temporal fossa. This finding may not present with general features of hydrocephalus, so that delays in diagnosis often result., Conclusion: For the NF1 patients with cranio-orbito-temporal deformities, prior to any surgical reconstruction, control of increased ICP (IICP) should be primarily considered.

Intrathoracic neurofibromas are relatively uncommon in patients with neurofibromatosis. They are usually asymptomatic and may be discovered incidentally. We present the case of a 51-year-old, African American man with neurofibromatosis type 1 who underwent coronary revascularization. Intraoperatively, numerous neurofibromas were discovered, one of which was attached to the left internal mammary artery. The procedure was uncomplicated despite the challenging intraoperative findings. Special considerations in the management of patients with neurofibromatosis undergoing cardiac surgery are discussed, including risks, preoperative imaging and the importance of excision of suspicious tumors., (Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background and Aim: To describe a series of children with neurofibromatosis type 1 (NF1) and a plexiform neurofibroma of the orbit with ptosis who underwent a combined one-stage surgery for tumor debulking, lid reconstruction, and ptosis repair., Methods: A retrospective review of 6 cases of combined one-step surgeries for orbital plexiform neurofibroma with ptosis., Results: The study included 6 children (4 boys, mean age 3.4 years). Follow-up time was at least 9 months. All children had unilateral orbitofacial plexiform. All children underwent a combined one-stage surgery performed by a single surgeon for tumor debulking, lid reconstruction, and ptosis repair. There was significant improvement in upper lid height and lid contour postoperatively in all the patients. One patient had early recurrence and underwent another two surgeries in the following years., Conclusion: A combined surgical approach for orbital involvement in NF1 results in favorable immediate results, though late recurrence may require additional surgical interventions in the future., (Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

Introduction: The current study describes the impact of surgery in preventing follow-up ipsilateral transient ischemic attacks (TIAs)/strokes in an East Coast North American cohort of patients with both moyamoya syndrome (MMS) and neurofibromatosis type 1 (NF1) (MMS-NF1)., Methods: We retrospectively reviewed records of patients with MMS and NF1 at the Johns Hopkins Medical Institutions from 1990-2014. Baseline characteristics and follow-up results including subsequent ipsilateral strokes were collected and compared between a revascularization group (group 1) and a conservatively managed group (group 2) on a per-hemisphere basis., Results: A total of 9 patients (14 hemispheres) were included in our study. The average age of all patients at NF1 diagnosis was 2.1 ± 7.7 years, with 6 being female (66.7%). The average age of all patients at MMS diagnosis was 10.4 ± 16.6 years with the median age being 7.7 years (range: 4.1-27.0 years). Race distribution was: White (n = 4, 44.4%), Black (n = 3, 33.3%), and Asian (n = 2, 22.2%). Four patients (44.5%) experienced cerebrovascular manifestations of MMS before MMS diagnosis. Group 1 was younger at MMS diagnosis (P = 0.009), likely with a more acute symptom onset (P = 0.077). Management strategies were: pial synangiosis (n = 3, 21.4%) and conservative (n = 11, 78.6%). During an average follow-up period of 6.28 ± 2.0 years, no ipsilateral TIAs/strokes were observed for group 1; conversely, 2 ipsilateral TIAs (18.2%) and 2 ipsilateral strokes (18.2%) occurred in group 2., Conclusions: In our study of non-Asian patients with MMS-NF1, revascularization reduced stroke recurrence and deterioration of symptoms. However, more studies are warranted to further explore the role of revascularization procedures given the rarity of this disease combination., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Neurofibromatosis type I (NF1) is a relatively common disorder associated with a range of neurologic sequelae. Refractory epilepsy occurs in 4-13% of NF1 patients. Hippocampal sclerosis and focal cortical dysplasia, both well-defined epilepsy-related entities, have been described in a subset of cases. To our knowledge, there has been only one other series describing coexistent focal cortical dysplasia and hippocampal sclerosis in the setting of NF1. We report two such patients who presented with intractable seizures requiring epilepsy surgery. Histologically, the hippocampal sclerosis specimen met criteria for the International League Against Epilepsy (ILAE) hippocampal sclerosis subtypes Ia and II respectively. The associated focal cortical dysplasia observed within the resected temporal lobe were both consistent with ILAE focal cortical dysplasia type IIIa (e.g. associated with a secondary lesion). Post-operatively, both patients had recurrence of habitual seizures, with one case continuing to have intractable seizures following two subsequent temporal lobectomies. Although hippocampal sclerosis association with focal cortical dysplasia is well document in epilepsy, it has been rarely described in the setting of neurofibromatosis type I. Although prior surgical series have shown good epilepsy surgery outcomes within neurofibromatosis type I, these two cases did not., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Study Design: A retrospective study., Objective: The objective of this study is to report the result of patients with neurofibromatosis type 1(NF-1), dystrophic scoliosis, and rib-head protrusion into the spinal canal who received posterior scoliosis correction surgery without rib-head resection., Summary of Background Data: A total of 124 patients with NF-1 and dystrophic scoliosis were treated at our institution during the study period. Eight patients with a median age of 12 years had rib-head protrusion into the spinal canal and received surgery and were included in the analysis., Methods: All 8 patients (6 male, 2 female) were treated from 2003 to 2013 and received posterior correction with a pedicle screw-rod 3-dimensional correction system or screw-hook hybrid system. Scoliosis correction rate and percentage of spinal canal occupied by the rib head were analyzed., Results: The median patient age, number of segments fused, and follow-up duration were 12 years, 10.5, and 22.5 months, respectively. There were no surgery-related complications, and symptoms in all patients improved after surgery. The median postoperative and 1-year follow-up sagittal kyphotic angles were significantly smaller as compared with the preoperative value (28.5 and 31 vs. 62.5 degrees, P=0.012). The median postoperative coronal Cobb angle of the main thoracic curve was significantly smaller compared with the preoperative value (29 vs. 64.5 degrees, P=0.012). The median percentage of the spinal canal occupied by the intraspinal rib was significantly lower at 1-year follow-up compared with the preoperative value (23.1% vs. 28.6%, P=0.018)., Conclusions: Posterior correction without rib-head excision can provide good outcomes for patients with NF-1 and dystrophic scoliosis and rib-head protrusion into the spinal canal.

BACKGROUND The human face is a one-of-a-kind structure with unique morphology, complexity, and function, in which different subunits are not even similar to other parts of the body. Therefore, extended complex deficits of the face are usually difficult to reconstruct, and autologous tissue restoration is generally not able to give a satisfactory aesthetic and functional outcome. The main goal of face allotransplantation is to restore symmetry, contour, and appearance as well as function of the face, especially control of orbicularis oculi and oris muscle physiology. We present the case of a total face transplant in an advanced neurofibromatosis type 1 patient - the second face transplant in Poland. CASE REPORT The recipient was a 28-year-old female with neurofibromatosis type I limited to the head region. During 24 years she underwent more than 35 surgical procedures, but for the last 3 years a significant decrease of her functionality and appearance was observed, including serious problems with speech, eating, and vision. In December 2013 she was qualified for a face transplant procedure. When the donor was found, she was matched on several clinical and biochemical characteristics including negative T and B cell cross-matching. Similarly, the transplantation procedure was done using two connected operating rooms; in the first, the donor's face was harvested, and in the second, the recipient's face was prepared - the tumor mass was resected and vascular and nervous structures were prepared. Due to the extension and complexity of the potential defect, more than 75% of head soft tissues were harvested including both auriculae, left and right eyelids, and scalp down to the occipital lower line. CONCLUSIONS Our case showed that neurofibromatosis is a real indication for a face transplantation procedure. Also, the results of rehabilitation, quality of life, motor and sensory recovery, and physiological status were comparable, showing that face transplantation based on careful selection of recipients and procedure planning is a real alternative, allowing achievement of excellent results that are far away from the outcomes of conventional reconstructions.

The article addresses the issue of a combination and relationship between intramedullary spinal cord tumors (IMSCTs) and neurofibromatosis (NF)., Aim: To study, based on large clinical material, features of the prevalence and biological nature of intramedullary spinal cord tumors in neurofibromatosis patients in different age groups., Material and Methods: We analyzed the data of the largest series of patients from all age groups who underwent surgery for spinal cord intramedullary tumors (541 patients; 586 surgeries; age, 2 months to 72 years)., Results: Our findings support a potential pathogenetic relationship between intramedullary tumors and neurofibromatosis. Astrocytoma was a predominant intramedullary tumor in patients with NF-1, while ependymoma predominated in patients with NF-2. IMSCTs combined with NF-1 occur predominantly in children and adolescents, while a combination with NF-2 is typical of young adults. Our findings confirm the fact that IMSCT surgery is required for a small number of NF patients.

OBJECTIVE The objective of this study was to evaluate the clinical efficacy of posterior-only surgical correction of dystrophic scoliosis in patients with neurofibromatosis Type 1 (NF1) using a multiple anchor point method (MAPM). METHODS From 2005 to 2014, 31 patients (mean age 13.5 years old, range 10-22 years old) suffering from dystrophic scoliosis associated with NF1 underwent posterior-only surgical correction using a MAPM. The apex of the deformity was thoracic (n = 25), thoracolumbar (n = 4), and lumbar (n = 2). The mean preoperative coronal Cobb angle was 69.1° (range 48.9°-91.4°). The mean Cobb angle on the side-bending radiograph of the convex side was 58.2° (range 40°-79.8°). The mean flexibility and apical vertebral rotation (AVR) were 15.6% (range 8.3%-28.2%) and 2.5° (range 2°-3°), respectively. The mean angle of sagittal kyphosis was 58.3° (range 34.1°-79.6°). RESULTS The mean follow-up period was 53 months (range 12-96 months). The mean postoperative coronal Cobb angle was 27.4° (range 16.3°-46.7°). Postoperatively, the mean AVR and angle of sagittal kyphosis were 1.2° (range 1°-2°) and 22.4° (range 4.2°-36.3°), respectively. All patients showed good correction of all indices postoperatively. The mean postoperative correction rate was 58.7% (range 46.3%-74.1%). At the final follow-up evaluation, the corrective loss rate of the Cobb angle was only 2.3%. Only 1 patient required revision surgery. No severe complications such as spinal cord, neural, or large vascular injury occurred during the operation. CONCLUSIONS Posterior-only surgical correction of dystrophic scoliosis in patients with NF1 using a MAPM could yield satisfactory clinical efficacy of correction and fusion.

Background: Vision is important for patients with hearing loss caused by neurofibromatosis type 2 (NF2). Tumors adjacent to the anterior visual pathway can potentially impair the vision. Only a few case reports and small-series studies have been reported., Objective: To evaluate the clinical features of tumors adjacent to the anterior visual pathway in a large series of patients with NF2., Methods: Seventy-three patients with potentially vision-impairing tumors were carefully screened from among 467 patients with NF2., Results: Among the 73 patients, 31 had intraorbital tumors, 21 had suprasellar meningiomas, and 21 had medial sphenoid ridge meningiomas. Of the 31 patients with intraorbital tumors, 17 had optic nerve sheath meningiomas, 9 had intraorbital schwannomas, 3 had spheno-orbital meningiomas, 1 had an anterior cranial fossa-orbital meningioma, and 1 had a cranio-orbital schwannoma. To the date of the last follow-up, 43 patients (58.9%) experienced visual loss. In most cases, hearing loss tended to occur earlier than visual loss. Six patients underwent early operations, and they recovered well without any further vision damage. Six other patients underwent operations after having no functional visual ability in the affected eyes, and their visual ability was not saved., Conclusions: Tumors adjacent to the anterior visual pathway, although uncommon in patients with NF2, can cause progressive visual loss. Early surgical intervention seems to be the primary treatment strategy, except for in patients' optic nerve sheath meningiomas. If patients adopt a wait and see policy, regular visual examination seems to be mandatory., (Copyright © 2016 Elsevier Inc. All rights reserved.)

A 40-year-old woman consulted our ED for a 7-month history of left dorsal back pain and dyspnea. The pain was initially dull and mechanical. Her general practitioner started nonsteroidal antiinflammatory drugs and physiotherapy, which provided partial relief. One week before consulting, the intensity of the pain increased, and she started to feel shortness of breath when performing her daily activities. She had lost 5 kg during the previous month. The patient was a healthy woman who lived in an urban area of Barcelona, Spain. She did not smoke or take drugs of abuse, and she worked as a butcher. During the initial evaluation, her blood pressure was 131/76 mm Hg, heart rate was 120 beats/min, temperature was 36.2°C, and ambient air pulse oximetry was 98%., (Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.)

Study Design: A case report and literature review., Objective: To report a late dislocation of the vertebra caused by progressive dural ectasia combined with type-1 neurofibromatosis (NF-1) and the clinical results of pseudarthrosis repairs using autologous cultured osteoblasts., Summary of Background Data: NF-1 is a well-known genetic disorder that is commonly characterized by spinal deformities including kyphoscoliosis. Late dislocation of the vertebra resulting from progressive dural ectasia after surgical correction of NF-1 scoliosis is a very rare occurrence, and pseudarthrosis frequently develops after surgical intervention for this complex spinal deformity., Methods: A 32-year-old female patient with NF-1 scoliosis underwent surgical correction with posterior instrumented fusion. Seventeen years later, dislocation of the lumbar spine with implant failure resulting from massive progressive dural ectasia was observed. She underwent anterior interbody fusion three times and posterior instrumented fusion four times for pseudarthrosis followed by surgical deformity correction. For the last operation, autologous cultured osteoblasts were used as a therapeutic approach to repair the pseudarthrosis, and a three-dimensional printing technique was used to understand the surgical anatomy of the dislocated lumbar spine in detail., Results: After the final operation, bone union was achieved and confirmed by clinical and radiological examination., Conclusion: Spine surgeons should be knowledgeable about the possibility of late destabilization of the spine, due to pulsatile dural ectasia, and a high rate of pseudarthrosis in neurofibromatosis. Autologous cultured osteoblasts may prove to be a modality that can be applied pseudarthrosis repair to treat complex spinal deformity., Level of Evidence: 5.

Neurofibromatosis type 1 (NF-1) is a genetic disorder that affects one in 3000 individuals. Although NF-1 notably involves nerves and connective tissue, vascular involvement in large series is estimated to range from 0.4% to 6.4%. Jugular vein involvement in these patients is rare. Spontaneous neck hematomas and hemorrhages are also unusual. We present a case of a NF-1 patient with a spontaneous neck hematoma with possible leakage from the left internal jugular vein, presenting as a lateral neck mass. The fragility of the vein wall and the surrounding tissue led patient to a severe intraoperative bleeding. Pathological examination revealed degenerated neurofibroma which was in contact with or infiltrated the vein wall. ENT and other clinicians should be aware of this potentially fatal entity considering that it may present as a lateral neck mass., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Introduction: The prognosis of malignant peripheral nerve sheath tumor (MPNST) with neurofibromatosis type 1 (NF-1) is worse than that of a solitary MPNST, because of the tumor size and location difficult to resect completely. We experienced a case of MPNST in the occipital region with NF-1., Case Report: A 59-year-old woman presented with NF-1 and an MPNST of the occipital region. We performed wide excision involving the occipital bone, and reconstructed with a titanium plate and a free latissimus dorsi muscle flap. Despite three operations and postoperative radiotherapy, the tumor locally recurred after each surgery; further complicated by lung and mediastinal metastasis. Adjuvant therapy was insufficient to control local recurrence, which was observed intracranially, resulting in sagittal sinus invasion. Thirty months after the initial surgery, the patient died of respiratory failure due to lung metastasis., Conclusion: MPNST with NF-1 has poorer prognosis than that of a solitary lesion. Recently, it is reported in several literature that combination therapy with surgery and radiotherapy improve survival rates. But as we presented, when the complete local resection with free margin could not achieved due to the size and anatomical location of the tumor, the effectiveness of radiotherapy is not sufficient to control local recurrence.

Background: To present a single-institution experience in the comprehensive and global soft-tissue surgical approach of patients with craniofacial neurofibromatosis type 1 (NF-1)., Methods: A retrospective analysis of patients with craniofacial NF-1 (n = 20) who underwent craniofacial soft-tissue reconstruction between 1993 and 2014 was conducted. Surgical treatment was individualized according to age, functional and/or aesthetic impairment, neurofibroma types, anatomical location, size, and patient/family and surgical team preferences, regardless of previously published compartmental grading systems. The surgical results were classified based on 2 previously published outcome rating scales (craniofacial symmetry improvement and need for additional surgery)., Results: All patients underwent en bloc translesional surgical excisions, 12 facial suspension, 3 eyebrow suspension, 2 ear suspension, 9 lateral canthopexy, 5 horizontal shortening of the tarsus of lower eyelid, and 1 horizontal shortening of the tarsus of upper eyelid. The degree of craniofacial symmetry improvement was considered "mostly satisfactory" (75%), and the overall rate of surgical results ranked according to the need for additional surgery was 2.4 ± 0.50, with variations according to the spectrum of soft-tissue involvement., Conclusions: According to the experience and surgical outcomes presented in this study, the soft-tissue surgical approach of the craniofacial NF-1 should be global, comprehensive, and individualized.

Introduction: Neurofibromatosis I (NF-1) is an autosomal dominant disease giving rise to hundreds of cutaneous neurofibromas. In addition to localised symptoms such as pain and pruritus, these lesions can have a devastating psychosocial impact. To date, there is no consensus on the optimal management of these lesions. We present the clinical and patient-reported outcomes of a series of NF-1 patients treated with electrodessication by one surgeon., Methods: All patients treated by electrodessication for cutaneous neurofibromas between 2012 and 2015 by one clinician were retrospectively reviewed. Clinical and patient-reported outcomes were measured using a patient satisfaction questionnaire and review of the notes., Results: Six patients were operated on during the study period (five women and one man). Prior to this new technique, patients had on average eight episodes (range 4-20) of excisional procedures under local anaesthesia removing one to five lesions. With electrodessication, patients had on average three (range 1-5) electrodessication episodes under general anaesthesia, treating hundreds of lesions per session. All patients were treated as a day case. One patient experienced a minor wound infection and another minor bleeding. Five of six patients preferred electrodessication to surgical excision., Conclusion: Electrodessication enables the treatment of hundreds of neurofibromas in a single operation. The procedure has low complication rates with high levels of clinical and patient-reported outcomes., (Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)