We experience a case of plexiform neurofibroma in a 10-year-old girl who had unusual giant pigmentation and multiple skcletal abnormalities including pectus cariimtum. Histologic examination of the lesion taken from right upper arm permitted a diagnosis of plexiform neurofibroma.
Arm ; Child ; Diagnosis ; Female ; Humans ; Neurofibroma, Plexiform* ; Pigmentation*

We experience a case of plexiform neurofibroma in a 10-year-old girl who had unusual giant pigmentation and multiple skcletal abnormalities including pectus cariimtum. Histologic examination of the lesion taken from right upper arm permitted a diagnosis of plexiform neurofibroma.
Arm ; Child ; Diagnosis ; Female ; Humans ; Neurofibroma, Plexiform* ; Pigmentation*

BACKGROUNDNeurofibroma is a kind of benign neoplasm that derives from nervous tissues. Though this tumor is the most common types in the peripheral nervous system, it is rarely seen in the choroid and easy to be misdiagnosed of choroidal melanoma. The aim of this study was to review the clinical features of neurofibroma of the choroid in the Chinese race.

METHODSA retrospective case series design was used. Two male and one female patients diagnosed with choroidal neurofibroma in Beijing Tongren Eye Center were included in this study. The clinical histories were abstracted from the patients' medical records. Routine eye examinations including visual acuity, intraocular pressure, slit lamp and ophthalmoscope were performed. Auxiliary examinations included fluorescein fundus angiography (FFA), AB-ultrasound scan, color doppler imaging (CDI), and magnetic resonance imaging (MRI). Local resection of the tumors was performed and the specimens underwent pathological examinations.

RESULTSThe tumors were of yellow-pink color with pigmentation on the surface. CDI showed arterial blood signals in the tumor and MRI showed high-intensity in the T1-weighted image and a slightly increased intensity in the T2-weighted image. FFA and indocyaninegreen angiography demonstrated the tumors were of hypofluorescence at early stage and hyperfluorescence with prominent leakage at late stage. The pathological examination confirmed the tumors were choroidal neurofibroma. After 5 - 10-year follow-up, there were no recurrences of the tumors and the retinas were well attached.

CONCLUSIONSChoroidal neurofibroma is difficult to be diagnosed clinically and pathological confirmation is important. These tumors can be managed conservatively by local resection.

Adult ; Choroid Neoplasms ; diagnosis ; surgery ; Female ; Humans ; Male ; Middle Aged ; Neurofibroma ; diagnosis ; surgery ; Retrospective Studies

A 12-year-old girl presented with a ciliary body mass that measured approximately 13 X 10 mm in size. The tumor was excised through cyclectomy. The light microscopic apprearance resembled neurogenic neoplasm such as neurofibroma or schwannoma. However, some tumor cells included fasciculus which is a characteristic feature of myogenic tumor. Immunohistochemistry assay and electron microscopic examination revealed smooth muscle nature including myofilaments with dense bodies and established the diagnosis as mesectodermal leiomyoma in the ciliary body. To our best knowledge, our patient is the youngest among the ciliary body leiomyoma cases ever reported.
Child ; Ciliary Body* ; Diagnosis ; Female ; Humans ; Immunohistochemistry ; Leiomyoma* ; Muscle, Smooth ; Myofibrils ; Neurilemmoma ; Neurofibroma

Lacrimal sac tumors are relatively rare and epithelial origin, mostly. The clinical menifestations of lacrimal sac tumors include epiphora, chronic dacrtocystitis, or lacrimal mass. Primary neurofibroma of lacrimal sac is benign nature and malignant transformation is rare. But malignant lacrimal sac tumors can be life-threatening; Therefore, the early diagnosis and treatment are important. We reported an experience of a 37-year-old female who had epiphora, pruritis, lacrimal mass, and facial asymmetry. The patient was finally diagnosed with pigmented neurofibroma of lacrimal sac that was proven by dacryocystogram, CT scan, and histophthologic finding.
Adult ; Early Diagnosis ; Facial Asymmetry ; Female ; Humans ; Lacrimal Apparatus Diseases ; Neurofibroma* ; Pruritus ; Tomography, X-Ray Computed

Neurofibromatosis is an infrequent genetic disorder that was first clinically described by von Recklinghausen and it was classified into 7 types by Riccardi. Type I neurofibromatosis is the most common type, and it is characterized by neurofibromas of variable size and multiple cafe-au-lait spots with minimal CNS lesion, if any. Malignant tumors develop in 2 to 13% of patients with type I neurofibromatosis, but they are rarely found in the retroperitoneum. We surgically resected huge retroperitoneal malignant peripheral nerve sheath tumors in 2 patients with sporadic type I neurofibromatosis. One patient survived 10 months and the other survived 3 months after operation. Retroperitoneal malignant peripheral nerve sheath tumor shows a poor prognosis even after surgical resection because of frequent recurrence and the lack of effective adjuvant therapy. Early diagnosis and development of new adjuvant therapy are required to effectively treat this malady.
Cafe-au-Lait Spots ; Early Diagnosis ; Humans ; Neurilemmoma* ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1 ; Peripheral Nerves ; Prognosis ; Recurrence

Neurofibromatosis(Von Recklinghausen's disease) is an autosomal dominant disease that affects one in 2,500-3,000 births. The clinical presentation is characterized by multiple pigmented lesions of the skin, known as cafe-au-lait spots, and neurofibromas of the skin. The criteria for diagnosis are at least six cafe-au-lait spots, each greater than 1.5cm in diameter and positive family history and biopsy of a neurofibroma. Management of benign neurofibromatosis must be individualized for each patient and ranges from incisional biopsy to wide local excision. Genetic counseling is advised for all patients with this disease, since no cure is available. We report the case of multiple neurofibromatosis with oral, parapharyngeal space and whole body lesions that was treated with surgical excision.
Biopsy ; Cafe-au-Lait Spots ; Diagnosis ; Genetic Counseling ; Humans ; Neurofibroma ; Neurofibromatoses* ; Parturition ; Skin

Dermatofibrosarcoma protuberans (DFSP) is a rare, distinctive cutaneous tumor, which consists of spindle shaped ceils arranged in densely packed interlacing bundles with the storiform or cartwheel pattern. Histologically, it resembles deep growing dermatofibroma, nodular fasciitis, neurofibroma and neural sheath tumors. DFSP is one of t.he connective tissue tumors which is difficult. to diagnose histologically as well as clinically. Recently, the immunochemical staining with a monoclonal antibody to CD34 is reported to give assistance in the clear differential diagnosis of DFSP from other fibrous or neural tumors. Herein, three cases of DFSP were stained by immunohistochemical staining with S-100 protein, vimentin, factor VIII and anti-CD34 antibody in order to assess the use of anti-CD34 in the differential diagnosis of DFSP.
Connective Tissue ; Dermatofibrosarcoma* ; Diagnosis, Differential ; Factor VIII ; Fasciitis ; Histiocytoma, Benign Fibrous ; Neurofibroma ; S100 Proteins ; Vimentin

Twenty-three patients with mass in parotid gland were examined with magnetic resonance (MR) imaging. The confirmed diagnoses were pleomorphic adenoma (9 cases), primary malignant tumor (3 cases), vascular malformation (3 cases), post operative scar (3 cases), parotid glandular lymphadenopathy (2 cases), lipoma (1 case), neurofibroma (1 cases), and chronic organizing abscess (1 case). Pleomorphic adenomas appeared as well-marginated lobulating masses with multi-compartment by internal fibrous septa. Most pleomorphic adenomas showed low signal intensity on T1-weighted images, and high signal intensity on T2-weighted images. Malignant tumors showed slightly high signal intensity on T2-weighted images but were less intense in signal intensity compared with that of benign tumors. One case of chronic abscess showed MR signal intensity similar to the malignant tumor. The lesions were clearly delineated on pre-contrast T1-weighted images in all cases. Gd-DTPA enhancement was helpful in characterizing the nature of the mass, but had limited diagnostic value in delineating the lesion from the surrounding normal tissue.
Abscess ; Adenoma, Pleomorphic ; Cicatrix ; Diagnosis ; Gadolinium DTPA ; Humans ; Lipoma ; Lymphatic Diseases ; Neurofibroma ; Parotid Gland ; Vascular Malformations

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