A large intrathoracic meningocele, a saccular protrusion of the meninges through a dilated intervertebral foramen or a bony defect of the vertebral column, was diagnosed in a 41-year-old female patient showing clinical features of neurofibromatosis-1 (NF-1), including cafe-au-lait spots, cutaneous neurofibromas, and axillary frecklings and Lisch nodules on the iris. Her daughter and son also had similar manifestations of NF-1. Regular follow-up with periodic imaging was recommended without surgical treatment because there were no signs or symptoms. Meningocele should be differentiated from posterior mediastinal tumors such as neurofibroma, neuroblastoma, and ganglioneuroma because NF-1 has a high risk of tumor formation. We report on this case with a brief review of the literature.
Adult ; Diagnosis, Differential ; Female ; Humans ; Incidental Findings ; Meningocele/*complications/*pathology ; Neurofibromatosis 1/*complications/genetics/*pathology ; Pedigree

Patients with neurofibromatosis-1 (NF-1) have increased susceptibility to a variety of malignancies. Here, we document a rare case of two separated ileal adenocarcinomas in NF-1. The adenocarcinomas were surrounded by a diffuse tubular adenomatous lesion of the mucosa, and ganglion cells were scattered in the NF background. We found this case meaningful for several reasons: two separated adenocarcinomas arising in an unusual ileal segment, the association with precancerous tubular adenoma, and the presence of ganglion cells, which suggests ganglioneuromatosis in NF-1.
Adenocarcinoma/complications/*pathology ; Adult ; Humans ; Ileal Neoplasms/complications/*pathology ; Ileum/pathology ; Intestinal Mucosa/pathology ; Male ; Neurofibromatosis 1/complications/*pathology

Malignant transformation of a neurilemmoma is an exceedingly rare event. We describe a case of intrathoracic ancient neurilemmoma undergoing a malignant change in a 39-yr-old man. The patient presented with right flank and chest pain for several months. Plain radiography and CT scan of the chest showed a soft tissue mass lesion at the extrapleural space with erosion of surrounding ribs at the right basal lung area. The excised mass was encapsulated and measured 4.5 x 3.5 x 2.3 cm. The cut surface showed grayish-white and glistening with a focal cystic change and hemorrhage. Necrosis was not seen. Histologically, the tumor showed the features of classic neurilemmoma composed of the Antoni type A and B areas with perivascular hyalinization. In addition, obviously histo-logically malignant foci manifested by presence of markedly increased cellularity with fascicular arrangement, active mitotic activity, hyperchromasia, and gradual loss of original neurilemmomatous feature were noted.
Adult ; Cell Transformation, Neoplastic* ; Diagnosis, Differential ; Human ; Male ; Neurilemmoma/complications ; Neurilemmoma/pathology* ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/pathology* ; Thoracic Neoplasms/etiology ; Thoracic Neoplasms/pathology* ; Tumor Markers, Biological

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder that has three major features: multiple neural tumors, cafe-au-lait spots, and pigmented iris hamartomas (Lisch nodules). The purpose of this case report is to advise physicians of the danger associated with the progression of fast-onset massive hemorrhage to hemodynamic instability, which mandates rapid treatment to prevent the development of a life-threatening condition. A 64-yr-old woman with NF-1 was admitted to the Emergency Department (ED) because of a rapidly growing, 10x5x3 cm-sized mass on the left back area. She had previously undergone surgery for a large subcutaneous hematoma, which had developed on her right back area 30 yr before. She became hemodynamically unstable with hypotension during the next 3 hr after admission to ED. Resuscitation and blood transfusion were done, and the hematoma was surgically removed. The mass presented as a subcutaneous, massive hematoma with pathologic findings of neurofibroma. We report a case of NF-1 that presented as recurrent, massive, subcutaneous hemorrhage on the back region combined with hypovolemic shock.
Diagnosis, Differential ; Female ; Hematoma/etiology/pathology ; Hemorrhage/*etiology/pathology ; Humans ; Middle Aged ; Neurofibromatosis 1/*complications/pathology ; Recurrence ; Skin Diseases/*etiology/pathology ; Tomography, X-Ray Computed

Neurofibromatosis type 1 is characterized by cutaneous neurofibromas and pigmented lesions of the skin called cafe au lait spots. Although neurofibromatosis type 1 represents a major risk factor for the development of malignancy, especially of nervous system tumors, malignant lymphoma rarely occurs in a patients with neurofibromatosis type 1. Recently, a 77-year-old woman with neurofibromatosis type 1 was diagnosed as non-Hodgkin's Lymphoma (diffuse large B cell). She had multiple cafe au lait spots, neurofibromas and right axillary lymph node enlargement. An abdominal CT scan demonstrated a left pelvic mass and para-aortic lymphadenopathy. Because non-Hodgkin's Lymphoma in a neurofibromatosis patient has never been reported in Korea, herein, we describe this case and include a review of the literature.
Aged ; Cafe-au-Lait Spots/complications/pathology ; Female ; Human ; Lung Neoplasms/*complications/pathology/radiography ; Lymphoma, Non-Hodgkin/*complications/pathology/radiography ; Neurofibromatosis 1/*complications/pathology/radiography ; Tomography, X-Ray Computed

Malignant peripheral nerve sheath tumor (MPNST) is defined as any malignant tumor arising from or differentiating toward the cells of the peripheral nerve sheath. MPNST accounts for about 5-10% of all soft tissue tumors and is often associated with neurofibromatosis type I (NF-1, von Recklinghausen's disease). It is one of the malignant tumors associated with von Recklinghausen's disease. Its common site is the lower and upper extremities, trunk, head and neck. But intrathoracic manifestations are very rare. We report a case of a 40 year-old man with multiple neurofibromatosis who was presented with an intrathoracic malignant peripheral nerve sheath tumor
Adult ; Case Report ; Diaphragm/pathology ; Human ; Lung/pathology ; Male ; Nerve Sheath Tumors/complications/diagnosis/*pathology ; Neurofibromatosis 1/complications/diagnosis/*pathology ; Prognosis ; Severity of Illness Index ; Thoracic Neoplasms/complications/diagnosis/*pathology

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder. Pseudoaneurysms formation and rupture is an unusual complication of neurofibromatosis. To date, pseudoaneurysm of the internal pudendal artery associated with NF-1 has not been reported. In this article, we present a 62-yr-old man with NF-1 suffering from spontaneous hematoma of the perinea and scrotum. A digital substraction angiography disclosed a ruptured pseudoaneurysm of the right internal pudendal artery, which was successfully managed with transcatheter embolization.
Aneurysm, False/pathology/*therapy ; Angiography, Digital Subtraction ; Arteries/*pathology ; Embolization, Therapeutic/*methods ; Humans ; Male ; Middle Aged ; Neurofibromatosis 1/*complications/pathology ; Perineum/blood supply/pathology ; Scrotum/blood supply/pathology ; Treatment Outcome

No abstract available.
Endoscopy, Digestive System ; Gastrointestinal Hemorrhage/*etiology ; Gastrointestinal Stromal Tumors/complications/*diagnosis/radionuclide imaging ; Humans ; Jejunum/pathology ; Male ; Middle Aged ; Neurofibromatosis 1/complications/*diagnosis/pathology ; Proto-Oncogene Proteins c-kit/metabolism ; Tomography, X-Ray Computed

BACKGROUND: Fibrous hamartoma is the key pathology of congenital pseudarthrosis of the tibia (CPT), which was shown to have low osteogenicity and high osteoclastogenicity. This study further investigated the mechanism of impaired osteoblastic differentiation of fibrous hamartoma cells. METHODS: Fibroblast-like cells were obtained from enzymatically dissociated fibrous hamartomas of 11 patients with CPT associated with neurofibromatosis type I (NF1). Periosteal cells were also obtained from the distal tibial periosteum of 3 patients without CPT or NF1 as control. The mRNA levels of Wnt ligands and their canonical receptors, such as Lrp5 and beta-catenin, were assayed using reverse transcriptase PCR (RT-PCR). Changes in mRNA expression of osteoblast marker genes by rhBMP2 treatment were assayed using quantitative real time RT-PCR. Changes in mRNA expression of transcription factors specifically involved in osteoblastic differentiation by rhBMP2 treatment was also assayed using quantitative real-time RT-PCR. RESULTS: Wnt1 and Wnt3a mRNA expression was lower in fibrous hamartoma than in tibial periosteal cells, but their canonical receptors did not show significant difference. Response of osteoblastic marker gene expression to rhBMP2 treatment showed patient-to-patient variability. Col1a1 mRNA expression was up-regulated in most fibrous hamartoma tissues, osteocalcin was up-regulated in a small number of patients, and ALP expression was down-regulated in most fibrous hamartoma tissues. Changes in mRNA expression of the transcription factors in response to rhBMP2 also showed factor-to-factor and patient-to-patient variability. Dlx5 was consistently up-regulated by rhBMP2 treatment in all fibrous hamartoma tissues tested. Msx2 expression was down-regulated by rhBMP2 in most cases but by lesser extent than control tissue. Runx2 expression was up-regulated in 8 out of 18 fibrous hamartoma tissues tested. Osterix expression was up-regulated in 2 and down-regulated in 3 fibrous hamartoma tissues. CONCLUSIONS: Congenital pseudarthrosis of the tibia appears to be caused by fibrous hamartoma originating from aberrant growth of Nf1 haploinsufficient periosteal cells, which failed in terminal osteoblastic differentiation and arrested at a certain stage of this process. This pathomechanism of CPT should be targeted in the development of novel therapeutic biologic intervention.
Adolescent ; *Cell Differentiation ; Cells, Cultured ; Child ; Child, Preschool ; Female ; Hamartoma/complications/*pathology ; Humans ; Infant ; Low Density Lipoprotein Receptor-Related Protein-5/metabolism ; Male ; Neurofibromatosis 1/complications/*pathology ; Osteoblasts/*pathology ; Periosteum/pathology ; Pseudarthrosis/complications/*congenital/pathology/physiopathology ; Receptors, Wnt/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Tibia/*pathology ; Transcription Factors/metabolism ; Wnt1 Protein/metabolism ; Wnt3A Protein/metabolism ; beta Catenin/metabolism

We report two cases of choroidal neurofibromatosis, detected with the aid of indocyanine green angiography (ICGA) in patients with neurofibromatosis (NF)-1, otherwise having obscure findings based on ophthalmoscopy and fluoresceine angiography (FA). In case 1, the ophthalmoscopic exam showed diffuse bright or yellowish patched areas with irregular and blunt borders at the posterior pole. The FA showed multiple hyperfluorescent areas at the posterior pole in the early phase, which then showed more hyperfluorescence without leakage or extent in the late phase. The ICGA showed diffuse hypofluorescent areas in both the early and late phases, and the deep choroidal vessels were also visible. In case 2, the fundus showed no abnormal findings, and the FA showed weakly hypofluorescent areas with indefinite borders in both eyes. With the ICGA, these areas were more hypofluorescent and had clear borders. Choroidal involvement in NF-1 seems to occur more than expected. In selected cases, ICGA is a useful tool to be utilized when an ocular examination is conducted in a patient that has no definite findings based on the ophthalmoscope, B-scan, or FA tests.
Child ; Choroid/*pathology ; Choroid Diseases/*diagnosis/etiology ; Coloring Agents/diagnostic use ; Diagnosis, Differential ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Fundus Oculi ; Humans ; Indocyanine Green/*diagnostic use ; Male ; Middle Aged ; Neurofibromatosis 1/*complications/diagnosis