1/12. Primary sjogren's syndrome in children and adolescents: proposal for diagnostic criteria.OBJECTIVE: Primary sjogren's syndrome (pSS) in childhood is a rare disease. Diagnostic criteria are available for adult patients only. In order to establish diagnostic criteria for juvenile pSS an analysis of 7 girls and one boy suffering from pSS with early onset is reported. Due to the rarity of the disease, data on patients with pSS reported in the literature are included in the proposal for modified diagnostic criteria. methods: The diagnosis of pSS was established according to the criteria for adulthood pSS, duly modified, which include clinical symptoms and laboratory immunological evaluation. RESULTS: The average age of our patients at clinical onset was 13.5 years (range: 10-17 yrs.). Clinical signs included systemic (fever, fatigue) as well as local (parotitis, vulvovaginitis, conjunctivitis) symptoms. paralysis due to hypokalemia linked to renal tubular acidosis and central nervous system (CNS) involvement was seen in one patient. Asymptomatic renal tubular acidosis was diagnosed in another 2 patients. Autoimmune hepatitis was present in 2 patients. All patients had laboratory abnormalities: hyperimmunoglobulinemia IgG, high titers of antinuclear antibodies (anti-SS-A and/or anti-SS-B) and elevated serum amylases. Sicca syndrome was never seen during childhood, although it developed later in 3 patients, after 7 to 10 years of follow-up. CONCLUSIONS: It has been stressed that the classical diagnostic criteria for adult sjogren's syndrome, especially sicca syndrome, are not applicable to a pediatric onset of the disease. On the other hand, the presence of typical laboratory abnormalities can allow the diagnosis of these patients in the early stages. Both laboratory and clinical symptoms typical for childhood are included in our proposal for diagnostic criteria applicable to juvenile pSS. life-threatening conditions such as hypokalemic paralysis, CNS involvement and hepatitis may also occur in children. Sicca syndrome tends to develop much later in pediatric patients.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/12. A surgical case of solitary plasmacytoma of rib origin with biclonal gammopathy.Localized solitary plasmacytoma of the bone (SPB) is a rare disease and is characterized by only one or two isolated bone lesions with no evidence of disease dissemination. A previously healthy 44-year-old male was admitted for evaluation of an abnormal radiographic shadow in the left middle lung field with symptoms of left back pain. Radiological evaluation revealed a peripheral opacity in the left chest wall, which was highly suspected to be a chest wall tumor. CT-guided transcutaneous needle biopsy of the tumor was performed and the specimens showed a monomorphous population of mature plasma cells. The bone marrow biopsy findings revealed no evidence of myeloma and bone scanning revealed only abnormal accumulation in the left seventh rib. He had mild M-proteins in a urine sample and Bence-Jones protein was detected. immunoelectrophoresis revealed mild biclonal gammopathy of Bence-Jones protein of both the kappa and lambda light-chain types. Under a diagnosis of solitary bone plasmacytoma, preoperative radiation therapy with doses of 40 Gy for the tumor was performed. He underwent complete en bloc resection of the chest wall, including one-third of the left sixth and seventh ribs, the intercostal muscle and the parietal pleura. The protein abnormalities in the urine sample disappeared following surgical resection. Adjuvant chemotherapy using melphalan and prednisolone was performed. He is doing well without evidence of tumor recurrence 2 years following his initial diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/12. Primary granulocytic sarcoma presenting with bone pain and hypergammaglobulinemia.Granulocytic sarcoma (GS), is an extramedullary tumorous aggregate of neoplastic myeloid precursor cells, most often associated with acute myeloid leukemia (AML). Primary GS occurs in patients with normal bone marrow and no history of hematological disorders. It is a rare disease, which can involve any organ and mimic other tumors. A correct initial diagnosis, which can be difficult, and early treatment with chemotherapy as for AML patients results in a higher rate of complete remission. We report a case of multifocal primary GS of the bone associated with oligoclonal hypergammaglobulinemia, successfully treated with AML-like induction chemotherapy followed by postinduction therapy with autologous peripheral stem cells transplantation. The possible significance of the associated hypergammaglobulinemia is discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/12. Tendonitis in variant hyperimmunoglobulinaemia D and periodic fever syndrome--a rare disease with a new symptom.Hyperimmunoglobulinaemia D syndrome (HIDS) is defined as recurrent fever, generalised lymphadenitis, abdominal pain, arthritis and raised polyclonal serum IgD >100 IU/ml. The cause is a mutation in the mevalonate kinase gene. Other periodic fever syndromes are known. We report a new patient and describe orbital tendonitis as a hitherto unreported symptom CONCLUSION: Without any underlying cause, the tendonitis must be seen as new symptom of variant hyperimmunoglobulinaemia D syndrome. We speculate that the inflammation of the Tenon spatium is similar to the process of inflammation of the connective tissue in the joint in hyperimmunoglobulinaemia D syndrome where deposits of C3 and IgM are present. Variant hyperimmunoglobulinaemia D syndrome can be present in one family.- - - - - - - - - - ranking = 4keywords = rare disease (Clic here for more details about this article) |
5/12. Angioimmunoblastic lymphadenopathy with dysproteinaemia.Angioimmunoblastic lymphadenopathy with dysproteinaemia is a rare disease. One such case is reported.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/12. Sensory and autonomic polyneuropathy associated with hypergammaglobulinemia.Sensory and autonomic polyneuropathy is a rare disease characterized by a sensory nerve disorder and postganglionic autonomic dysfunction. The etiology of this disease is unknown. We described a 51-year-old woman who had a chronic sensory dominant polyneuropathy and dysautonomia associated with hypergammaglobulinemia. In the previous reports of sensory and autonomic polyneuropathy, not much attention was given to coexisting hypergammaglobulinemia. By reviewing the literatures, hypergammaglobulinemia was frequently present in these case reports. This fact leads us to consider that an immunological mechanism may be playing a role in the pathogenesis of this disorder.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/12. Hyperimmunoglobulinemia E syndrome: pulmonary imaging considerations.The Hyper IgE syndrome is a rare disease consisting of recurrent sinusitis and pneumonia, pneumatoceles, chronic dermatitis, and elevated serum levels of IgE. The primary radiographic abnormalities are recurrent alveolar lung disease and pneumatoceles. pneumothorax may occasionally occur as in one of our cases. Other causes of pneumatoceles are usually easily excluded by the history and other clinical data. Pulmonary scintigraphy and computed tomography may add information valuable to the management of these patients.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/12. Hyper IgE syndrome: four case report.patients with hyper IgE syndrome (HIES) have varying degree of immunological unbalance that account for deficiency of total T and OKT8 lymphocytes. To investigate the role of immunostimulating drugs in HIES, thymostimulin (TP1) and levamisole were given in highly controlled groups of patients after a wash out period with disodium-chromoglycate (DSCG). Both drugs do not modify clinical picture whereas they do modulate some laboratory parameters as T lymphocyte total number, IgE plasmatic concentration, neutrophil chemotaxis. Furthermore TP1 had a worsening clinical effect in 3 of our patients. In our opinion we feel that the therapies proposed and employed so far for this rare disease must be critically analyzed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/12. Cutaneous histoplasmosis in a child with hyper-IgM.Immunodeficiency with hyperimmunoglobulinemia M is a rare disease characterized by very low levels of IgG and IgA and normal or high levels of serum IgM and IgD. Recurrent and severe systemic infections with pathogenic bacteria are frequent if immunoglobulin replacement therapy is not given. histoplasmosis is a systemic granulomatous mycosis due to histoplasma capsulatum and characterized by a particular affinity for the reticuloendothelial system. Glabrous skin involvement in histoplasmosis is highly unusual except in patients with advanced human immunodeficiency viral disease. Cutaneous histoplasmosis and granulomatous reaction were diagnosed in a 5-year-old boy with hyper-IgM disease. The lesion improved after oral ketoconazole therapy. To our knowledge, this is the first case of cutaneous histoplasmosis associated with hyper-IgM to be reported.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/12. Proteinaceous (angiocentric sclerosing) lymphadenopathy: a polyclonal systemic, nonamyloid deposition disorder.Proteinaceous lymphadenopathy with hypergammaglobulinemia (PLWH) is an exceedingly rare disease of unknown etiology. Described primarily as a pathologic entity, relatively little is known about its clinical manifestations or its response to therapy. The disease is often referred to and treated as an unusual form of plasma cell dyscrasia or light chain deposition disease. We have recently encountered a young patient with PLWH who presented with generalized lymphadenopathy, marked liver function abnormalities, hypocomplementemia, cryoglobulinemia, decreased T4/T8 ratio, and ophthalmopathy. Contrary to the notion that PLWH is a clonal disorder, we found no evidence of clonality in this patient. The most characteristic finding in this and in another patient, previously seen at our institution, was marked angiocentric hyaline sclerosis of the small and mid-sized blood vessels of involved lymph nodes and organs. Based on these findings, we propose the term angiocentric sclerosing lymphadenopathy, which more accurately defines this clinicopathologic entity that appears to be distinct from light chain deposition disease and other plasma cell dyscrasias.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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