ObjectiveTo evaluate the effectiveness of Cross-Union surgery for the treatment of pseudarthrosis of the tibia (PT) with neurofibromatosis type 1 (NF1). MethodsThe clinical data of 8 children of PT with NF1 who met the selection criteria between January 2018 and December 2023 was retrospectively analyzed. There were 5 boys and 3 girls, and the operative age ranged from 1.8 to 13.3 years with a median age of 3.5 years. According to Paley classification, there were 2 cases of type 2a, 2 cases of type 3, 2 cases of type 4a, and 2 cases of type 4c. There were 5 cases of first operation and 3 cases of re-fracture after previous operation. Six cases had leg length discrepancy before operation, and 2 of them had shortening over 2.0 cm. Except for 1 case of ankle fusion, the other 7 cases had ankle valgus. Preoperative coronal/sagittal angulation was recorded. Postoperative pseudarthrosis healing and refracture were observed. Leg length discrepancy and tibiotalar angle were measured and recorded before operation and at last follow-up. Inan imaging evaluation criteria was used to evaluate the imaging effect. ResultsAll patients were followed up 12-37 months (mean, 23.5 months). One pseudarthrosis failed to heal at 12 months after operation and healed at 3 months after reoperation, while the other pseudarthrosis healed with a healing rate of 87.5% and a healing time of 4-8 months (mean, 5.3 months). No refracture occurred during the follow-up. At last follow-up, there were 2 new cases with leg length discrepancy, which were 0.7 cm and 1.3 cm, respectively. In 2 cases with the leg length discrepancy more than 2.0 cm before operation, the improvement was from 4.1 cm and 12.6 cm to 2.1 cm and 9.0 cm, respectively. There was no significant difference in leg length discrepancy between pre- and post-operation in 8 cases (P>0.05). At last follow-up, 6 patients still had ankle valgus, and there was no significant difference in the tibiotalar angle between pre- and post-operation (P>0.05); the tibial coronal/sagittal angulation significantly improved when compared with that before operation (P<0.05). According to Inan imaging evaluation criteria, 1 case was good, 6 cases were fair, and 1 case was poor. Conclusion Cross-Union surgery is an effective method for the treatment of PT with NF1 in children, can achieve good bone healing results with a low risk of re-fracture. The surgery may not have significant effects on leg length discrepancy and ankle valgus, and further treatment may be required.
The isolated gastric neurofibroma is a rare disease and is difficult to be diagnosed before operation. Six patients with this disease were admitted to our hospital from 1992 to 1995. The methods of diagnosis included being alert to this disease, ultrasonic gastroscope and immunopathologic examination, especially the latter. It should be differentiated from carcinoma, leiomyoma,and lymhposarcoma of the stomach. Two of these patients received laparoscopic local resection of the tumor, and the others partial gastric resection.
ObjectiveTo explore the plastic surgical treatment and the way to reduce hemorrhage for scalp and facial plexiform neurofibromas. MethodsBetween July 2004 and July 2013, 20 patients with scalp and facial plexiform neurofibromas (17 cases of neurofibromatosis type Ⅰ and 3 cases of plexiform neurofibroma) were treated, and the clinical data were retrospectively analyzed. There were 9 males and 11 females with an average age of 37 years (range, 18-56 years). The disease duration ranged from 8 to 56 years (mean, 19 years). The scalp was involved in 6 cases, the face in 7 cases, and both the scalp and face in 7 cases. The extent of involvement ranged from 4 cm×3 cm to 15 cm×13 cm. Obvious pigmentation was seen in 2 cases. Endovascular embolization was performed before surgical intervention in 4 cases. Preliminary sutures around the lesion were carried out in 18 cases having an involved range over 5 cm×5 cm. One-stage excision was performed in 17 cases, and two-stage excision in 3 cases. Wound repair and facial orthopedic treatment were performed after tumor excision. ResultsThe intraoperative blood loss was 100-500 mL (mean, 300 mL) for patients undergoing single operation. For 3 patients undergoing two-stage excision, the blood loss of the first operation was 500, 600, and 800 mL respectively, and the blood loss of the second operation was all 50 mL. Autologous blood transfusion of 200, 400, and 400 mL was performed in 3 cases respectively. The preliminary sutures were removed at 3-7 days (mean, 5 days) after operation. All the incisions healed primarily without secondary hemorrhage and hematoma, and the flap and skin graft survived totally. Fifteen patients were followed up 1 year to 7 years (mean, 2.5 years). All patients showed significant improvement in appearance. No significant progression, expanding, and sagging were observed. ConclusionEndovascular embolization and preliminary sutures around the lesion can be used to reduce hemorrhage in resection of plexiform neurofibroma in the scalp and face. Personalized surgical plan of benign neurofibromatosis should be made to reduce the tumor mass, to improve function and appearance.
ObjectiveTo observe the imaging characteristics of fundus choroidal nodules in patients with neurofibromatosis type 1 (NF1). MethodsA retrospective clinical study. From January 2018 to August 2022, 20 eyes of 10 patients with NF1 combined with choroidal nodules who were diagnosed by ophthalmology examination at the Affiliated Hospital of Yunnan University were included in the study. Among them, there were 6 male cases with 12 eyes and 4 female cases with 8 eyes; both eyes were affected. Age was (28.0±6.9) years old. Both eyes were involved. All patients underwent color fundus photography, infrared fundus photography (IR), fundus autofluorescence (FAF), fluorescein fundus angiography (FFA), and optical coherence tomography (OCT). Nine eyes underwent multi-wavelength color imaging (MC) and 5 eyes underwent OCT angiography (OCTA). ResultsIn 20 eyes, fundus color photography showed "spiral-like" changes in the small retinal blood vessels on the surface of the choroidal nodules in 1 eye. FAF and FFA examination showed no abnormalities in all affected eyes. On IR examination, choroidal nodules appeared as strong reflective lesions of varying sizes and numbers, in the form of spots and/or sheets, and were partially fused. In the 9 eyes that underwent MC examination, patchy red signals was observed in standard MC images. OCT examination showed that all affected eyes had strong choroidal reflective mass lesions under the retinal pigment epithelium, which were flat patchy or slightly raised “dome-like”, corresponding to IR strong reflective lesions. The choriocapillaris layer was squeezed and thinned, and the large choroidal vessels show weak reflection. Five eyes underwent OCTA examination, there was no loss of blood flow density at the choroidal nodules and the of the superficial an deep retinal capillary plexus in 3 eyes. The choroidal capillary blood flow density was reduced in 2 eyes. ConclusionIR of choroidal nodules is characterized by strong reflection lesions of varying sizes and numbers, which appear in spots and/or sheets. OCT shows enhanced reflection of the choriocapillaris layer corresponding to the strong IR reflection lesions.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease caused by mutations in the NF1 gene. The disease is characterized by neurofibromatosis, which simultaneously affects multiple systems such as nerves, skin, and bone, and has complex clinical manifestations. Since the National Institutes of Health (NIH) established diagnostic criteria in 1988, the diagnosis and treatment of NF1 have progressed significantly. However, due to the complexity of the disease and the lack of effective treatments, the diagnosis and treatment of NF1 still face many challenges. Strengthening multidisciplinary collaboration, improving and popularizing disease diagnosis and treatment strategies, and developing more effective drugs and treatment methods are the keys to further improve the treatment level of NF1 diseases.
Neurofibromatosis type 1 (NF1) is an autosomal dominant neoplastic disease caused by mutations in the NF1 gene and one of the most challenging diseases to treat. Patients have a characteristic phenotype with neurofibromas as the main features in different forms, including numerous cutaneous neurofibromas, plexiform neurofibromas involving the primary nerves, or malignant peripheral nerve sheath tumors with a very short survival period after malignant transformation. NF1 patients also suffer from multi-system involvement, with a high rate of deformity and disability, making complete surgical resection more difficult. Currently, there is no consensus on the diagnosis and treatment of NF1 in China, and different disciplines have different understandings of NF1. Multidisciplinary systematic evaluations and cooperative treatments are the keys to improve the treatment, quality of life, and prognosis of NF1 patients. In 2020, the Department of Plastic Surgery of the Ninth People’s Hospital of Shanghai Jiaotong University School of Medicine led the establishment of the first multi-center collaboration group for NF1 in China. Furthermore, the group had worked with renowned experts from the various departments including surgical oncology, medical oncology, dermatology, reproductive medicine, et al. in China to formulate the “Expert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition)”, aiming to promote standardized and homogeneous treatment covering the whole life cycle of NF1 patients and improve the treatment level and outcome of NF1 patients in China.