Objective:To investigate the clinical manifestations and the effect of peroral endoscopic-assisted laryngeal microsurgery for children with laryngeal neurofibroma, and to provide clinical reference for the diagnosis and treatment of this disease. Methods:The clinical data of 4 children with laryngeal tumors admitted to the Department of Otorhinolaryngology, Children's Hospital of Chongqing Medical University from January 2021 to June 2023 were retrospectively analyzed. Laryngeal tumors were removed by peroral endoscopic-assisted laryngeal microsurgery. One case underwent tracheotomy at the same time, and one case was simultaneously performed with laryngeal T tube placement and tracheotomy. Results:Surgical resection is the best treatment for laryngeal neurofibroma, and laryngeal microsurgery should be actively used for patients with surgical indications.This surgical method has the advantages of good efficacy, minimal invasion, aesthetics and preservation of laryngeal function, which not only ensures safety, but also improves the quality of life after surgery, and has the value of development and promotion.
Child ; Humans ; Laryngeal Neoplasms/pathology* ; Laryngoscopy/methods* ; Microsurgery/methods* ; Retrospective Studies ; Quality of Life ; Neurofibroma/diagnosis*

PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased left visual acuity and corneal opacity. She had undergone several surgeries previously due to the presence of basosquamous carcinoma in the left lower eyelid, neurofibroma, and malignant melanoma of the facial skin. The patient showed repeated corneal surface problems, with a suspicious dendritic lesion; however, antiviral therapy was ineffective, and herpes simplex virus polymerase chain reaction results were negative. Despite regular follow-ups, the patient showed neovascularization around the corneal limbus and an irregular corneal surface. We performed corneal debridement with autologous serum eye drops for treatment. The patient's visual acuity and corneal surface improved after the procedure. The impression cytology result was corneal dysplasia. In whole exome sequencing, two pathogenic variants and one likely pathogenic variant of the POLH gene were detected. CONCLUSIONS: This is the first genetically identified xeroderma pigmentosum case with ophthalmological lesions of the eyelid and cornea in Korea. Debridement of the irregular corneal surface and autologous serum eye drop administration in xeroderma pigmentosum could be helpful for improving visual acuity.
Adult ; Carcinoma, Basosquamous ; Cornea ; Corneal Opacity ; Debridement ; Diagnosis ; Exome ; Eyelids ; Female ; Follow-Up Studies ; Humans ; Ichthyosis ; Korea ; Limbus Corneae ; Melanoma ; Neurofibroma ; Ophthalmic Solutions ; Polymerase Chain Reaction ; Simplexvirus ; Skin ; Visual Acuity ; Xeroderma Pigmentosum

PURPOSE: The aim of this study was to review the common conditions associated with mandibular canal widening. MATERIALS AND METHODS: General search engines and specialized databases including Google Scholar, PubMed, PubMed Central, Science Direct, and Scopus were used to find relevant studies by using the following keywords: “mandibular canal,” “alveolar canal,” “inferior alveolar nerve canal,” “inferior dental canal,” “inferior mandibular canal,” “widening,” “enlargement,” “distension,” “expansion,” and “dilation.” RESULTS: In total, 130 articles were found, of which 80 were broadly relevant to the topic. We ultimately included 38 articles that were closely related to the topic of interest. When the data were compiled, the following 7 lesions were found to have a relationship with mandibular canal widening: non-Hodgkin lymphoma, osteosarcoma, schwannoma, neurofibroma, vascular malformation/hemangioma, multiple endocrine neoplasia syndromes, and perineural spreading or invasion. CONCLUSION: When clinicians encounter a lesion associated with mandibular canal widening, they should immediately consider these entities in the differential diagnosis. Doing so will help dentists make more accurate diagnoses and develop better treatment plans based on patients' radiographs.
Dentists ; Diagnosis ; Diagnosis, Differential ; Humans ; Lymphoma, Non-Hodgkin ; Mandibular Nerve ; Multiple Endocrine Neoplasia ; Neurilemmoma ; Neurofibroma ; Odontogenic Cysts ; Odontogenic Tumors ; Osteosarcoma ; Search Engine

PURPOSE: To report a case of moyamoya syndrome after an additional diagnosis of neurofibromatosis type 1 (NF 1) using an ophthalmic examination in a middle-aged patient with moyamoya disease. CASE SUMMARY: A 60-year-old male with no specific past medical history except moyamoya disease visited our hospital for an ophthalmic examination. Two years prior, he had been diagnosed with moyamoya disease by brain imaging performed after a head trauma. At the first visit, his best corrected visual acuity was no light perception in the right eye (OD) and 20/25 in the left eye (OS). The intraocular pressure was 8 mmHg (OD) and 10 mmHg (OS). On fundus examination, the right eye showed a dense opacity of an ocular media and the left eye showed no abnormality except an increased cup-to-disc ratio. However, infrared imaging showed multiple whitish lesions in the left eye. Fluorescein angiography showed a patchy choroidal filling delay. During the follow-up, slit-lamp microscopy revealed Lisch nodules and multiple café au lait spots and neurofibromas were found in the skin which led to the diagnosis of NF 1. CONCLUSIONS: When examining patients with moyamoya disease, ophthalmologists should check not only ocular comorbidity associated with moyamoya disease but also ocular comorbidity with other systemic diseases that can accompany moyamoya disease. NF 1 is the most common systemic disease associated with moyamoya syndrome. In this case, appropriate follow-up was essential to monitor the development of ocular or systemic vasculopathies and their complications.
Choroid ; Comorbidity ; Craniocerebral Trauma ; Diagnosis ; Fluorescein Angiography ; Follow-Up Studies ; Humans ; Intraocular Pressure ; Male ; Microscopy ; Middle Aged ; Moyamoya Disease ; Neurofibroma ; Neurofibromatosis 1 ; Neuroimaging ; Skin ; Visual Acuity

OBJECTIVE: Because the anatomical structure of the brachial plexus is very complex, surgical treatment of tumors in this region is challenging. Therefore, a lot of clinical and surgical experience is required for successful treatment; however, many neurosurgeons have difficulty accumulating this experience owing to the rarity of brachial plexus tumors. The purpose of this report is to share our surgical experience with brachial plexus tumor with other neurosurgeons.METHODS: The records of 18 consecutive patients with brachial plexus tumors who underwent surgical treatment between January 2010 and December 2017 in a single institution were retrospectively reviewed. The surgical approach was determined according to the tumor location and size, and intraoperative neurophysiological monitoring (IONM) was used in most of cases to prevent iatrogenic nerve injury during surgery. In addition, to evaluate the differences in tumor characteristics according to pathologic diagnosis, the tumors were divided twice into two groups, based on two separate classifications, and statistical analysis was performed.RESULTS: The 18 brachial plexus tumors comprised 15 (83.3%) benign peripheral nerve sheath tumors including schwannoma and neurofibroma, one (5.6%) malignant peripheral nerve sheath tumor, one (5.6%) benign tumor of non-neural sheath origin (neurogenic cyst), and one (5.6%) metastatic tumor (papillary carcinoma). The authors analyzed relationship between tumor size/location and tumor characteristic parameters such as age, size, right-left, and pathology. There were no statistically significant differences except a tendency of bigger tumor size in young age.CONCLUSION: For a successful surgical outcome, an appropriate surgical approach is essential, and the appropriate surgical approach is determined by the location and size of the tumor. Furthermore, applying IONM may prevent postoperative complications and it is favorable option for brachial plexus tumors surgery.
Brachial Plexus Neuropathies ; Brachial Plexus ; Classification ; Diagnosis ; Humans ; Intraoperative Neurophysiological Monitoring ; Monitoring, Intraoperative ; Nerve Sheath Neoplasms ; Neurilemmoma ; Neurofibroma ; Neurosurgeons ; Pathology ; Peripheral Nerves ; Postoperative Complications ; Retrospective Studies

PURPOSE: We report a rare case of solitary neurofibroma on the eyelid margin without neurofibromatosis. CASE SUMMARY: A 46-year-old male presented with a well-define small nodular lesion on the right upper eyelid margin that had not changed for 10 years. Surgical excision and biopsy were performed. Histological examination showed spindle-shaped cells in the fibrous stroma on hematoxylin & eosin staining, and immunohistochemical staining revealed S-100 protein-positive cells. Dermatologic, neurologic, and genetic evaluations showed no evidence of systemic neurofibromatosis. Six months after operation, there was no evidence of local recurrence. CONCLUSIONS: To the best of our knowledge, this is the first case of solitary neurofibroma involving the eyelid margin without neurofibromatosis in Korea. Neurofibroma should be considered in a differential diagnosis of eyelid mass and can be successfully managed with surgical excision.
Biopsy ; Diagnosis, Differential ; Eosine Yellowish-(YS) ; Eyelids* ; Hematoxylin ; Humans ; Korea ; Male ; Middle Aged ; Neurofibroma* ; Neurofibromatoses* ; Recurrence

STUDY DESIGN: Case report. OBJECTIVES: We report the case of a long, solitary, rosary-shaped neurofibroma that was misdiagnosed as another disease due to the patient's surgical history involving repetitive procedures and its abnormal appearance. SUMMARY OF LITERATURE REVIEW: Neurofibroma is an intradural-extramedullary spinal tumor. It is generally not difficult to diagnose due to its frequent occurrence and specific magnetic resonance imaging (MRI) findings. However, to date, neurofibromatosis stigmata and long, solitary, rosary-shaped neurofibromas have rarely been reported. MATERIALS AND METHODS: A 60-year-old woman was admitted to our hospital due to persistent pain, despite previous surgery and repetitive procedures. On physical examination, vision loss, hearing loss, skin discoloration, or subcutaneous nodules were not observed. A neurologic examination revealed normal motor and sensory function and voiding sensation. No pathologic reflexes such as the Babinski sign were observed. Previous sequential MRIs revealed intradural lesions that progressed from the thoracic vertebra 11 to the lumbar vertebra 3. She had no signs of neurofibromatosis stigmata, and the neurologic examination was unremarkable. The initial diagnosis was based on serial MRIs, which revealed a parasite infestation, a spinal cord tumor (myxopapillary-type ependymoma with hemorrhage), arachnoiditis, and vascular malformations. Total mass excision was performed, and the final diagnosis was neurofibroma. RESULTS: There were no signs of a tumor remnants or local recurrence in a 1-year follow-up MRI study. CONCLUSIONS: Although intradural spinal tumors are very rare, their clinical features are nonspecific and resemble other degenerative spinal diseases, including spinal stenosis and disc herniation. These diseases may easily be overlooked by physicians.
Arachnoid ; Arachnoiditis ; Christianity ; Diagnosis ; Diagnostic Errors ; Ependymoma ; Female ; Follow-Up Studies ; Hearing Loss ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Neurofibroma* ; Neurofibromatoses ; Neurologic Examination ; Parasites ; Physical Examination ; Recurrence ; Reflex ; Reflex, Babinski ; Sensation ; Skin ; Spinal Cord Neoplasms ; Spinal Diseases ; Spinal Stenosis ; Spine ; Vascular Malformations

PURPOSE: Solitary plexiform neurofibroma of the eyelid without neurofibromatosis is a rare disease. We report a case of solitary plexiform pigmented neurofibroma of the eyelid without neurofibromatosis. CASE SUMMARY: A 12-year-old male visited our clinic with a painless palpable subcutaneous mass on the right lower eyelid. He had a history of Batter syndrome and attention deficit hyperactivity disorder. On initial presentation, clinical features regarding neurofibromatosis such as Lisch nodule, optic nerve glioma, or high myopia were not observed. We performed excision and biopsy of the lower lid mass under general anesthesia. Macroscopically, the tumor was 4.0 × 1.5 × 1.5 cm in size with irregular nodules. Microscopically, the tumor consisted of multiple, variably sized tortous enlarged nerve fascicles with clusters of pigmented cells. Immunohistochemical results revealed expression of S-100 protein. Pigmented cells express both S-100 and melan-A proteins, while nonpigmented cells express S-100 protein only. The tumor was finally diagnosed as plexiform pigmented neurofibroma. Dermatological evaluation revealed no evidence of systemic neurofibromatosis. CONCLUSIONS: Plexiform neurofibroma should be considered in the differential diagnosis of an eyelid mass, even if the patient does not have a history or clinical features of neurofibromatosis. Plexiform neurofibroma can be successfully managed with surgical excision.
Anesthesia, General ; Attention Deficit Disorder with Hyperactivity ; Biopsy ; Child ; Diagnosis, Differential ; Eyelids* ; Humans ; Male ; MART-1 Antigen ; Myopia ; Neurofibroma ; Neurofibroma, Plexiform* ; Neurofibromatoses ; Neurofibromatosis 1 ; Optic Nerve Glioma ; Rare Diseases ; S100 Proteins

Neurofibromas can occur anywhere in the body, but they usually involve the head, neck, pelvis, and extremities. Abdominal visceral involvement is rare, and intrahepatic involvement is even less common. We describe a patient who suffered from plexiform neurofibromatosis with liver involvement. A 49-year-old man, who had previously been diagnosed with neurofibromatosis, underwent esophagogastroduodenoscopy and abdominal ultrasonography for screening purposes. Esophagogastroduodenoscopy showed grade 2 esophageal varices and abdominal ultrasonography showed conglomerated nodules with echogenic appearances in the perihepatic space. Magnetic resonance imaging showed presumed plexiform neurofibroma involving the lesser sac and hepatic hilum and encasing the common hepatic artery celiac trunk and superior mesenteric artery left portal triad. We report an unusual case of portal hypertension attributed to the compressive narrowing of the portal vein by presumed as plexiform neurofibroma at the lesser sac and hepatic hilum.
Abdomen/diagnostic imaging ; Endoscopy, Digestive System ; Esophageal and Gastric Varices/pathology ; Hepatic Artery/diagnostic imaging ; Humans ; Hypertension, Portal/*diagnosis ; Liver/diagnostic imaging ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neurofibroma, Plexiform/*diagnosis/diagnostic imaging ; Tomography, X-Ray Computed ; Ultrasonography

Neurofibromas are benign, slow-growing nerve sheath tumors of the peripheral nervous system, arising from Schwann cells, and classically associated with neurofibromatosis type 1 (Nf1, von Recklinghausen's disease). They occur rarely in the gastrointestinal tract as isolated neoplasms, outside the classical clinical feature of neurofibromatosis. We herein present an isolated colonic neurofibroma without any systemic signs of neurofibromatosis. A 59-year-old female came to our hospital for constipation. On physical examination, general appearance showed no definite skin lesions. A subepithelial tumor measuring 0.8 cm was detected at the distal descending colon on colonoscopy. The lesion was removed completely by endoscopic resection. Microscopic examination showed proliferation of spindle cells in the mucosa and infiltration of inflammatory cells. Immunohistochemical staining was positive for S-100 protein. The above morphological and immunohistochemical characteristics were consistent with a diagnosis of a solitary neurofibroma of the sigmoid colon.
Colon ; Colon, Descending ; Colon, Sigmoid* ; Colonoscopy ; Constipation ; Diagnosis ; Female ; Gastrointestinal Tract ; Humans ; Middle Aged ; Mucous Membrane ; Nerve Sheath Neoplasms ; Neurofibroma* ; Neurofibromatoses ; Neurofibromatosis 1 ; Peripheral Nervous System ; Physical Examination ; S100 Proteins ; Schwann Cells ; Skin