1/9. Determination of extent and activity with radionuclide imaging in erdheim-chester disease.erdheim-chester disease usually involves the diaphyseal and metaphyseal regions of tubular bones and various visceral organs. A 56-year-old woman presented with the histologically confirmed diagnosis of erdheim-chester disease. A Tc-99m MDP bone scan revealed the entire extent of the skeletal disease and showed unusual involvement of the epiphyses and axial skeleton. In addition to MRI, a Ga-67 citrate scan including SPECT showed extensive soft-tissue infiltration of different organs. Both Tc-99m MDP and Ga-67 scintigraphy are useful tools in determining the distribution of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/9. Hydatid disease of rib.Osseous hydatidosis, especially when located in the rib, is a very rare disease. In 1978, only 39 costal echinococcosis cases were published. The course of the disease is generally slow and laboratory tests are frequently negative. diagnosis is generally made through the combined assessment of clinical, radiologic, and laboratory data. Living in a rural area is an important risk factor for the disease. The gold standard for therapy is radical removal of the involved ribs or chest wall. We present the case of a 63-year-old herdsman with costal echinococcosis and a review of the literature.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/9. eosinophilic granuloma of the bone: ultrasonographic imaging.eosinophilic granuloma is a rare disease of unknown aetiology that affects the bones. Two cases of eosinophilic granuloma are presented. Ultrasonographic, CT and histopathological findings are described. Ultrasonographic-guided core-needle biopsy was performed. Treatment was initiated by installing steroid suspension into the lesions, which resulted in complete healing of the bone in both cases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/9. 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) |
5/9. Systemic mastocytosis with skeletal involvement.Systemic mastocytosis is a rare disease. The observation of one case characterized by clinical and radiographic bone involvement encouraged the authors to review the literature on the subject. The classification and most recent pathogenetic hypotheses correlated with various radiographic pictures, the different histological aspects, and most frequent differential diagnoses are reported.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/9. Scintigraphic findings and follow up in erdheim-chester disease.Two cases of erdheim-chester disease are presented: a 26-year-old white male patient with lipoidgranulomatosis of numerous long and flat bones and infiltration of pericardium, pleura, liver, spleen, thyroid, skin, conjunctiva, gingiva, and false vocal cord; and a 54-year-old white male with involvement of bones, orbits, brain, pericardium, and retroperitoneum. The scintigraphic findings in this disease are described, and a comprehensive review of the 27 previously reported cases is given including an assessment of the value of scintigraphy for diagnosis and follow up of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/9. Fibrogenesis imperfecta ossium (clinical, biochemical and ultrastructural investigations).The authors report a case of fibrogenesis imperfecta ossium (FIO). Only four cases diagnosed during life have previously been described in the literature. This is an extremely rare disease of entirely unknown aetiology. Clinical, biochemical and ultrastructural investigations were carried out. The most significant finding was the abnormal structure of the bone tissue, which was studied both by optical and electron microscopy on three successive biopsies of the iliac crest. In addition to deficient synthesis of the collagen fibrils, important anomalies related to the proteoglycans and the cellular elements were demonstrated. These have not been reported in previous cases. Some significant analogies with experimental lathyrism are also discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/9. Infratemporal hydatid cyst--unusual location of echinococcosis.Hydatid disease is an important medical problem in countries of the temperate zones. Only occasional cases are reported in the head and neck region. An unusual location for hydatid disease in the infratemporal fossa is presented. Characteristics of this rare disease together with treatment modalities are discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/9. Primary synovial chondromatosis of the temporomandibular joint with suspected traumatic etiology. Report of a case.Synovial chondromatosis (SC) of the temporomandibular joint (TMJ) is a rare disease that is characterized by the development of nodules of cartilage within the synovial connective tissues of articulating joints. Reports of extracapsular TMJ SC are rare. A case is presented of primary SC of the TMJ with extension to the pterygoid plates, with a suspected traumatic etiology. The differences between primary and secondary SC are discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |