1/7. Macrodystrophia lipomatosa with associated fibrolipomatous hamartoma of the median nerve.Macrodystrophia lipomatosa (MDL) is a rare disease typically causing localized gigantism and is often associated with a fibrolipomatous hamartoma (FH) of the median or plantar nerve. A previously unreported case of MDL with associated FH of the median nerve is presented.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Angiomyomatous hamartoma and associated stromal lesions in the right inguinal lymph node: a case report.Angiomyomatous hamartoma is a rare disease with a predisposition for the inguinal lymph nodes. A 51-year-old male patient visited a local hospital because of a right inguinal mass, measuring 3 x 4 cm in size, which was resected. The resected specimen showed irregularly distributed thick-walled vessels in the hilum, extending into the medulla and focally into the cortex of the node, eventually becoming more dispersed and associated with smooth muscle cells splaying into sclerotic stroma. These findings are compatible with an angiomyomatous hamartoma. Another tumor-like mass appeared shortly after the resection at the same location, but was not an angiomyomatous hamartoma, rather it was composed of edematous stromal tissue with proliferating smooth muscle cells. The stromal component included thick-walled blood vessels and lymphatics. Although it could not be determined whether these associated changes in the surrounding stroma are a cause or an effect of angiomyomatous hamartoma, they indicate the clinical difficulty in determining an appropriate area of resection and may provide clues to the pathogenesis of angiomyomatous hamartoma.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. hamartoma involving the pseudarthrosis site in patients with neurofibromatosis type 1.Congenital pseudarthrosis is a rare disease with variable clinical effects. The disease remains 1 of the most controversial pediatric entities in terms of etiopathogenesis, therapy, and prognosis. Between 0.5% and 2.2% of patients with neurofibromatosis demonstrate pseudarthrosis in any of the long bones. The exact origin of the lesion is even unclear; although several attempts have been made to determine the type of tissue involving the pseudarthrosis site, only fibrous tissue has been documented in different reports. We present 2 unrelated Mexican patients (male and female) with familial neurofibromatosis and congenital pseudarthrosis of the tibia and fibula. Histochemical and immunostain studies after surgical resection of the affected ends from the pseudarthrosis site of both patients showed a picture compatible with hamartoma. This is the first time when histologic evidence of hamartomatous tissue involving the pseudarthrosis site is presented.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. A carcinoembryonic antigen-secreting adenocarcinoma arising in tailgut cyst: clinical implications of carcinoembryonic antigen.Tailgut cysts (TGCs) are rare congenital cysts that occur in the retrorectal or presacral spaces. Although most tailgut cysts have been reported as benign, there have been at least 9 cases associated with malignant change. We report herein on an unusual case of a 40-year-old woman with a carcinoembryonic antigen (CEA)-producing adenocarcinoma arising within a TGC who underwent surgical resection and local radiation therapy. Despite the complete resection, metastatic adenocarcinoma developed five months after surgery. CEA-producing adenocarcinoma from a TGC is extremely rare and only two cases, including this case, have been reported in the English medical literature. Besides CEA, the serum levels of CA 19-9 became markedly elevated in this patient. Given that the serum CEA level decreased to the normal range after complete resection of tumor and that the tumor recurrence was associated with a rebound of the CEA serum level, our case shows that serial measurements of serum CEA can be used for treatment planning and for assessing the patient's treatment response for this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. Leiomyomatous lung lesions: a proposed classification.A case of multiple pulmonary leiomyomas is presented. In a review of the literature, a confusing array of rare diseases all pertaining to multiple leiomyomas was found. These were reduced to three entities: leiomyomatosis in women, metastatic leiomyoma in men and children, and multiple pulmonary fibroleiomyomatous hamartoma occurring in anyone. The leiomyomatous diseases in women are related to uterine leiomyomas and they are hormone-sensitive. This is of great prognostic importance. The classification, definitions, and discussion should prove helpful in understanding these rare multiple diseases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/7. Mammary hamartoma: is clinical diagnosis possible?Mammary hamartoma is a rare benign lesion of the female breast. diagnosis is usually made by either radiological and or histological means. Clinical diagnosis has been reported to be difficult. Between December 1994 and June 1995, three patients were found to have mammary hamartomas. All of them presented with breast lump greater than 6 cm in size. All hamartomas were well-delineated, soft and lobulated. Mammogram in these patients showed typical radiological 'breast in the breast' appearance of mammary hamartoma. A correct clinical diagnosis of mammary hamartoma was made in the third patient after the experience of management gained through the first two patients with mammary hamartoma. We believe that clinical diagnosis of mammary hamartoma is possible with both awareness of and experience of examining patients with this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/7. Endobronchial hamartoma treated by an Nd-YAG laser: report of a case.Endobronchial hamartomas are only rarely encountered. They cause irreversible lung damage due to bronchial obstruction if not diagnosed early and treated properly. Among the various treatments for this rare disease, a surgical resection remains the most popular. We herein report a case of a 53-year-old man presenting with an endobronchial hamartoma which was successfully excised by laser irradiation via a rigid bronchoscope, along with a review of 113 patients with this disease reported in the literature.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |