Congenital disseminated malignant rhabdoid tumor of the soft tissue.
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Biomedical subjects
Publications and source records attributed to Misten Demiryont.
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We report a case of primary cardiac epithelioid hemangioendothelioma arising from the right atrium of a 2-month-old infant. The tumor was found incidentally during exploratory sternotomy for recurrent pericardial effusion. This case represents a very rare situation, because this is the youngest patient found in relevant literature, and because it involves extensive infiltration by the tumor without any development of intracardiac mass appearance.
Juvenile hyaline fibromatosis (JHF) is an extremely rare, genetic disease with unknown etiology. It is characterized by cutaneous nodules and flexural joint contractures, along with hypertrophy of the gingival and oral mucosa, which is probably the most striking and morbidity-related feature of the disease. An advanced case of JHF with prominent growth retardation, recurrent respiratory tract infections, and impending upper respiratory tract obstruction due to severe hypertrophy of the oral mucosa and gingiva is presented. Surgical excision of the hypertrophic oral mucosa and cutaneous nodules in the scalp was performed. No major recurrence of the mucosal lesions was observed at the first postoperative year.
PURPOSE: To report the first case of congenital extraskeletal mesenchymal chondrosarcoma arising in the orbit. DESIGN: Interventional case report and review of the literature. METHODS: Ophthalmologic examination and computed tomography scan of the orbit were performed. Histologic and histochemical examination and immunohistochemistry of the biopsy specimen were evaluated. MAIN OUTCOME MEASURES: Ocular and systemic disease control. RESULTS: A 5-month-old girl was seen with a papillomatous lesion in the right lower tarsal conjunctiva present from birth. Histologic examination demonstrated an admixture of undifferentiated mesenchymal cells and islands of mature hyaline cartilage, and immunohistochemistry studies revealing positivity for vimentin and S-100 were consistent with the diagnosis of mesenchymal chondrosarcoma. The patient was treated with combined chemotherapy (ifosfamide, epirubicin, and cisplatin), radiotherapy, and surgery (exenteration). She is alive with no evidence of disease after 4 years of follow-up. Facial asymmetry and dental malformations have developed as late effects. Further reconstructive surgery is planned for the malformations. CONCLUSIONS: Extraskeletal mesenchymal chondrosarcoma in the orbit is extremely rare. This study reports the first case of congenital extraskeletal mesenchymal chondrosarcoma arising in the orbit (also the youngest patient) both in skeletal and extraskeletal sites. Multimodality treatment (surgery, chemotherapy, and radiotherapy) may lead to long-term survival.
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Synovial sarcoma is a soft tissue sarcoma of unknown histogenesis and occurs predominantly in the lower extremities of young adults. The head and neck is a relative rare location. There are about 10 cases with laryngeal localization in the literature. We present a 24 year-old male with an endolaryngeal mass. Incisional biopsy and the hemilaryngectomy material revealed a biphasic synovial sarcoma. One year later a local recurrence occurred. Tumor excision and neck dissection were performed. Radiotherapy was added. Six months later lung metastases was discovered on thoracic CT. The patient received chemotherapy for 6 courses. The metastases responded well to chemotherapy and the patient is now alive without tumor on radiological and clinical examination after 3.5 years of follow-up.
We report 4 cases of malignant peripheral nerve sheath tumors (MPNST) with neurofibromatosis type 1 (NF1). Mean age was 29.5. Two of them had a family history. Three of them were male. All of them had enlarging mass and pain in the background of neurofibromas. Locations were popliteal, thigh and forearm. The masses were greater than 5 cm in diameter in each case. In two cases the mass was showing continuity with a nerve. One patient had a nonossifying fibroma as well as a MPNST. Wide excision and radiotherapy were applied to three of the patients. One of them did not take any therapy after surgical resection. Two of the patients died of lung metastases after a mean period of 12.5 months. In a majority of NF1 patients MPNST emerges from a preexisting neurofibroma. The patients with NF1 are at greatest risk for developing sarcomas, so they should be followed closely.
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Hydatid disease, which is caused by the Echinococcus granulosis parasite, is endemic in certain parts of the world where close contact between humans and sheep exists. The disease most commonly involves the liver and other solid organs. This report describes the case of a teenage girl with hydatid disease involving the right axilla and various other sites concomitantly. The patient was admitted to hospital with a mass in the right axillary region, and further examinations revealed that the liver and right lung were also involved. We report this case to emphasize that hydatid disease should be considered in the differential diagnosis of patients from endemic areas who present with soft tissue masses.
It is well known that in advanced cervical metastatic disease of head and neck squamous cell carcinoma, the incidence of distant metastasis is high. A case of distant metastasis to the scapular muscles from an uncontrolled cervical metastasis of laryngeal carcinoma is presented. Other unusual metastatic sites are reviewed and the possible mechanism of the spread is discussed.
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Nitric oxide has many functions in wound healing and metabolism of bone. In the current study the role of nitric oxide on bone healing was investigated. Thirty-six young adult male Sprague-Dawley rats were divided into three groups: control, nitroso-bovine serum albumin, and aminoguanidine. Five millimeter segmental defects were created in the middle of the right femora. A polyethylene plate and screw posts were used for rigid fixation. Demineralized bone matrix served as the graft material in all groups. Nitroso-bovine serum albumin (an active nitric oxide congener) carried by demineralized bone matrix was applied locally at the defect in the nitroso-bovine serum albumin group. Aminoguanidine (an inducible nitric oxide synthase inhibitor) group received oral aminoguanidine treatment. Formation and healing of bone were determined by radiographic and histologic analyses. In comparison to the control group the healing rate was faster in both experimental groups as indicated by radiographic and histologic data. If accompanied by bone graft with a suitable delivery system, nitric oxide may be useful as a therapeutic adjuvant in clinical situations when local formation of bone is needed. Moreover, when combined appropriately, treatment with orthotopic nitric oxide supplementation and systemic inducible nitric oxide synthase inhibition may enhance bone healing.
There has been a great deal of controversy regarding the safety of silicone breast implants. Silicone gel prostheses older than 10 years have the risk of either leakage or outright rupture. The role of silicone gel in relation to connective tissue disease or amyloidosis has not been proved by current serologic, immunologic, or epidemiologic tests. In this paper, we present a case with renal amyloidosis and a history of untreated silicone implant rupture for five years.
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Synovial sarcoma is a relatively rare soft tissue tumor. About 3 to 10% of cases arise in the head and neck, with the majority in the parapharyngeal region. We hereby report a 22-year-old male patient with synovial sarcoma confined to the hypopharynx. Treatment included wide surgical excision followed by radiotherapy. It is of interest that the lesion recurred 12 years after the initial primary surgery for synovial sarcoma at the same site. The patient has been disease-free for five years.