1/21. A case of medulloepithelioma of the left eye.The case of a 12 year old male patient with a diagnosis of medulloepithelioma of the ciliary body is reported. The difficulties in reaching diagnosis and management are discussed. The importance of keeping such a rare disease in mind is stressed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/21. Recurrent adrenocortical carcinoma in a child.An 8-month-old girl presented with clitoromegaly, cushingoid features and a large abdominal tumour. ultrasonography (US) and computed tomography (CT) of the abdomen revealed a tumour of the left suprarenal gland, 12x11x7 cm in size. serum levels of cortisol, testosterone and DHEA-S, and urinary extretion of 17-ketosteroids and 17-hydroxycorticoids were increased. Complete removal of the tumour was accomplished through a transabdominal approach. The diagnosis of adrenocortical carcinoma was confirmed histologically. Three months after the first operation, a recurrent tumour of the left renal hilus, 23x15 mm in size, was identified by US and verified by aspiration biopsy. The tumour was removed by the transabdominal route. In this report, we discuss the diagnosis and the treatment of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/21. Recurrent leiomyomatosis peritonealis disseminata exacerbated by in vitro fertilization.Leiomyomatosis peritonealis disseminata is a rare disease that is most often discovered during pregnancy or in patients with a history of oral contraceptive use. We report the first case of a patient with the disease who conceived by in vitro fertilization and the complications that occurred.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/21. Peripheral primitive neuroectodermal tumor of the vulva: report of a case with imprint cytology.BACKGROUND: Peripheral primitive neuroectodermal tumor (PNET) of the vulva is an extremely rare disease, and, to our knowledge, only two cases have been previously reported. CASE: A 45-year-old woman presented with a mass in the right labium major. Three years after removal of the tumor, she noticed a new lesion in the same place and underwent a partial vulvectomy. The imprint cytology of the recurrent tumor showed a monomorphic appearance, composed of small round cells with scant cytoplasm against a hemorrhagic background. These tumor cells were loosely connective, but rosettelike structures were observed focally. On pathologic examination, the neoplasm was composed of small round tumor cells showing sinusoidal, diffuse or micropapillary growth. Immunohistochemically, the neoplastic cells stained positively for neuron-specific enolase, vimentin and HBA 71 and negatively for cytokeratin, HBA 45 and muscle-specific actin. The morphologic characteristics of the disease were well expressed in the imprint cytology, and this influenced the selection of immunohistochemical studies. CONCLUSION: Cytologic examination for vulvar tumors, even imprint cytology, can be a useful tool in obtaining an accurate pathologic diagnosis of a rare disease, such as peripheral PNET.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |
5/21. Right psoas muscle/aortoiliac groove recurrence: an unusual anatomic site for progression of epithelial tumors of the appendix.Appendiceal carcinoma is a rare disease with low malignant potential. The resection site and the peritoneal cavity are the most common sites of tumor relapse. Despite extensive peritoneal involvement, the presence of regional lymph nodes and hematogenous metastases is exceptional. We report four cases of appendiceal carcinoma metastatic to the right psoas muscle/aortoiliac region and hypothesize regarding the mechanisms of dissemination. We use our experience with this unusual condition to make recommendations regarding treatment.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/21. recurrence of lymphangioleiomyomatosis after single lung transplantation: new insights into pathogenesis.lymphangioleiomyomatosis (LAM) is a rare disease found primarily in white women of childbearing age. The present study describes a case of recurrent LAM after single lung transplantation. Double-staining nonisotopic in situ hybridization, immunohistochemistry, and short tandem repeat loci analysis demonstrated that the recurrent LAM lesions originated from the recipient. The data strongly support that metastatic spread of LAM cells or migration of progenitor cells plays an important role in the pathogenesis of LAM.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/21. Testicular metastasis from squamous cell carcinoma of the lung.We present a case of squamous cell carcinoma of the testis that metastasized from lung cancer. The patient, who had received left pneumonectomy 2 years earlier for squamous cell carcinoma (SCC) of the lung, developed pulmonary metastasis, which was treated with chemotherapy. Although the recurrence regressed after treatment, the testicular tumor progressed gradually. Left radical orchiectomy was performed. Pathological examination revealed metastatic SCC. Testicular metastasis from lung cancer is a very rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/21. PET imaging of Rosai-Dorfman disease: correlation with histopathology and ex-vivo beta-imaging.We report the case of a woman who developed an early relapse of a squamous cell carcinoma (SCC) and was thus restaged twice within a year using [(18)F]fluorodeoxyglucose (FDG) positron emission tomography (PET). While there was no evidence of metastatic tumor outspread, focally increased FDG uptake was visible in numerous nodes but showed no change during the period between the two PET scans. These nodes, predominantly located at the proximal extremities, ranged in size from about 1 cm to over 6 cm. They were located subcutaneously, showed a red/bluish livid color and were of stout consistency. These nodes occurred first after radiochemotherapy for a non-Hodgkin's lymphoma (NHL) about 6 years earlier and slowly increased in size and number. One node of the right forearm was resected and ex-vivo beta-imaging, directly measuring the positron emission of the intranodal FDG distribution, was done and showed an overall increased glucose utilization with distinct spots of high metabolism. Histopathological work-up of the tumor showed widespread granulomatous tissue with lymphocyte follicles. Immunostaining showed the tumor to be positive for S100, CD68 and vimentin. Rosai-Dorfman disease (RDD) was diagnosed and no evidence of a potential relapse of the previous NHL was detected. RDD is a rare disease that is associated with the multifocal growth of benign tumors. The lesions are metabolically highly active. The correlation of the beta-imaging and histopathological results showed a high metabolism within granulomatous tissue with more intense metabolism within lymphocyte follicles.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/21. Primary malignant schwannoma of the small bowel.Primary malignant schwannoma of the small intestine is an extremely rare disease. We report a primary malignant intestinal schwannoma of the small bowel in a 66-year-old woman, who was admitted to the hospital because of fatigue and anaemia. On clinical examination there was a solid mass at the abdomen. Ultrasound scanning showed an abdominal tumour. Computed tomography showed a mass in the area of the pancreatic tail involving the small intestine. At laparotomy a 10 x 10 cm tumour was found in the proximal jejunum, and 50 cm of the small intestine was resected. The histology of the lesion corresponded to a malignant intestinal schwannoma. The results of previous studies and of our report suggest that the diagnosis of malignant intestinal schwannoma may be difficult, and to exclude malignant conditions laparotomy and surgical excision of the tumour are adequate in the management of this type of lesion.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/21. Recurrent respiratory papillomatosis in a survivor of extreme prematurity.Recurrent respiratory papillomatosis (RRP) is a rare disease in children. Previous reports suggested that prematurity and early age of presentation were poor prognostic factors. We report on a 24-week premature infant who presented with stridor, weak cry, and hoarseness of voice at age 9 months (corrected age), in whom the diagnosis of RRP was not made until age 21 months (corrected age). Laser excision of RRP was subsequently performed, and the child is still surviving at age 2.5 years. RRP should be considered in the differential diagnosis of airway problems in survivors of extreme prematurity; the prognosis is not uniformly poor in premature infants.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
| | Next -> |