1/8. 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) |
2/8. Xanthoma of bone in a normolipidemic child: report of one case.Xanthoma invasion of the bone is a very rare disease especially in normolipidemic children. Bone erosion can be found in patients with this disease. However, due to the similarity of the symptoms of xanthoma with many other diseases including malignancy, the other diseases may initially be to be suggested and xanthoma may not even be considered. In this paper, we present an 8-year-old normolipidemic male child with a parietal bone xanthoma proved using tissue diagnosis. The clinical, radiographic and histological findings are also reviewed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/8. Positron emission tomography/computed tomography of a rare xanthogranulomatous process: erdheim-chester disease.erdheim-chester disease (ECD) is a disseminated xanthogranulomatous infiltrative disease of unknown etiology due to infiltration of different organs and bones by foamy histiocytes. A 37-year-old male with cerebral and periorbital lesions was diagnosed with this rare disease and was evaluated with magnetic resonance imaging (MRI) and 2-deoxy-2-[(18)F]fluoro-D-glucose (FDG) with positron emission tomography/computed tomography (PET/CT) imaging at baseline and following therapy. FDG-PET imaging allowed accurate evaluation of the extent of the disease at baseline, as well as assessment of response to therapy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/8. Upper and lower eyelid reconstruction for severe disfiguring necrobiotic xanthogranuloma.BACKGROUND: necrobiotic xanthogranuloma is a rare disease featuring generalized xanthomatous inflammatory skin lesions associated with paraproteinemia and possible lymphoproliferative diseases. Eyelid involvement can be unilateral or bilateral and ranges from minor xanthelasma-like lesions to severe ulcerative disease with consecutive keratitis and scleritis. CASE REPORT: The authors report the case of a 67-year-old woman with extensive necrobiotic xanthogranuloma involving the eyelids, head and neck, anterior chest, and both upper and lower extremities. Periorbital involvement caused severe upper and lower lid ectropium with chronic conjunctival inflammation and unilateral exposure keratitis. During a persistent period of low disease activity, granulomatous lesions and scars were widely excised, lids partially shortened and large full-thickness skin grafts applied. Uninvolved parts of the upper arms had to serve as donor sites, as other possible donor sites were not available. After successful reconstruction of the left side and no local recurrence of the disease, the right side was corrected in the same way. Full eyelid closure was achieved and skin grafts healed without complications. No recurrence of the disease appeared at the sites of operation, despite continuous new lesions elsewhere. CONCLUSION: Severe cicatricial eyelid deformation caused by necrobiotic xanthogranuloma can be treated with success by excision and free skin grafting. The mechanisms of recurrence at excision sites described by others remain unclear, but at least during phases of low activity, the described treatment is safe and recurrence is not to be expected.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/8. necrobiotic xanthogranuloma of the chest wall.necrobiotic xanthogranuloma is a rare disease that usually presents with indurated yellow red nodules or plaques in the dermis or subdermal tissues. The pathogenesis of this disease is unknown and the limited number of cases has made long-term studies difficult. We report the case of a 61-year-old woman seen in our office for a 5 x 5-cm lesion of her chest wall. Biopsies established a diagnosis of necrobiotic xanthogranuloma. The patient received 4 months of intralesional steroid injections without change in the lesion. The patient was also treated with colchicine for several months without improvement. Therefore, the lesion was surgically excised and the area was reconstructed with local advancement skin flaps. The patient has been followed for 2 years with no evidence of recurrence.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/8. purpura fulminans secondary to xanthomonas maltophilia sepsis in an adult with aplastic anemia.purpura fulminans is a rare disease characterized by purpura ecchymosis, hypotension, and fever associated with disseminated intravascular coagulation. It often begins as a benign infectious process and subsequently progresses to a severe, catastrophic outcome. It is recognized to originate from congenital or acquired protein c deficiency. We present an unusual case of an adult with xanthomonas maltophilia sepsis that subsequently developed into purpura fulminans with involvement of the four extremities. We discuss the importance of the protein C system in coagulation homeostasis and its relationship to purpura fulminans.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/8. Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.plasma sterol levels in a family of sitosterolemia and xanthomatosis were determined by a high performance liquid chromatography. Three affected siblings manifested marked xanthomatosis including subcutaneous soft tissues and generalized atherosclerosis. Two other siblings as well as children of the patients did not show such clinical symptoms and signs. plasma levels of cholesterol, sitosterol, campesterol, and cholestanol in three affected subjects were 190 /- 18.5, 25.9 /- 11.6, 16.1 /- 7.8, 1.84 /- 0.92 mg/dl (mean /- SD), respectively. Four daughters of the affected subjects, who should be considered as obligatory heterozygotes, showed moderately increased levels of these sterols (195 /- 41.7, 1.33 /- 0.44, 1.56 /- 0.69, 0.80 /- 0.28 mg/dl), which were significantly higher than those of normal subjects. Treatment with cholestyramine had little effect on the increased plasma plant sterol levels, but markedly decreased plasma cholestanol concentrations in two affected siblings. This report presents the clinical features of the patients with sitosterolemia and xanthomatosis and also demonstrates that heterozygotes with this disorder have increased plasma levels of plant sterols as well as cholestanol, and suggests that this rare disease might be inherited as an autosomal co-dominant trait in certain cases. The data also indicate that cholestyramine administration was not effective in this family for treatment of sitosterolemia.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/8. Generalized normolipemic plane xanthomatosis associated with relapsing polychondritis.Generalized normolipemic plane xanthomatosis is a rare cutaneous disorder, frequently associated with reticuloendothelial diseases and some disorders with inflammation. Relapsing polychondritis is also a rare disease that shows an association with various immune-mediated diseases. We report a case of generalized normolipemic plane xanthomatosis associated with relapsing polychondritis in a 56-year-old Japanese man. We have already reported the clinical picture of relapsing polychondritis as well as an increase in urinary glycosaminoglycans excretion in this patient. During subsequent treatment with various immunosuppressive therapy, including prednisone, methotrexate, azathioprine, or aurothiomalate, multiple elevated yellowish erythematous plaques appeared on his neck approximately 32 months after the onset of relapsing polychondritis. Histologically, these eruptions consisted of perivascular neutrophilic infiltrate with nuclear dust and multiple foam cells among collagen bundles, compatible with those of generalized normolipemic plane xanthomatosis. This combination of two rare diseases has not been reported in the literature to our knowledge.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |