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1/26. The role of bone scintigraphy in patients with erdheim-chester disease.

    erdheim-chester disease (ECD) is a rare disorder that has been reported fewer than 60 times in the literature. Although clinical findings seem to be specific at first sight, histologic classification remains unclear. It has not been decided whether ECD is part of the spectrum of histiocytoses or whether it may be a lipid storage disorder or even a primary macrophage cell disorder, although it does show a distinct histologic pattern. However, the clinical appearance alone shows several typical features, rendering the diagnosis very probable if present. This article illustrates the importance of bone scanning in ECD, because the scintigraphic pattern of involved skeletal sites may in themselves lead to the diagnosis. Several differential diagnoses are considered. The importance of bone scintigraphy as an imaging method in patients with an unclear diagnosis is discussed, as exemplary in ECD, as is its role for the detection of sites of skeletal involvement in other diseases.
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ranking = 1
keywords = macrophage, bone
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2/26. Hereditary arthro-ophthalmopathy (Stickler syndrome).

    We report a 34-year-old woman with hereditary arthro-ophthalmopathy (HAO; Stickler syndrome). This disorder is a rare inherited generalized connective tissue disorder involving the eyes, facial structures and the skeleton, resulting from defective type II collagen formation. There is premature degenerative arthritis and osteopenia with increased incidence of fractures. The differential diagnosis and treatment for bone loss are discussed.
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ranking = 0.014945565640096
keywords = bone
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3/26. Endogenous lipoid pneumonia associated with undifferentiated connective tissue disease (UCTD).

    BACKGROUND: Lipoid pneumonia is a rare pulmonary disease, a form of pneumonia that has no classical radiological appearance, thus it can imitate other lung diseases. Lipoid pneumonia is usually classified into two major groups, depending on whether the source of oil/fat in the respiratory tract is from an exogenous or endogenous source. Undifferentiated connective tissue disease is a term used by rheumatologists to define a group of diffuse connective tissue disorders that lack definitive characteristics of any particular well-defined disorder. MATERIAL AND methods: A case study is reported of concomitant undifferentiated connective tissue disease and endogenous lipoid pneumonia. RESULTS: Histologically the macrophages appeared filled with lipid and were similar to atherosclerotic foam cell macrophages. Antibiotic and antimycotic treatments were ineffective. However, with concomitant steroid treatment, the patient exhibited absence of lung infiltration as well as other symptoms and was discharged. Therefore it is concluded that the lipoid pneumonia was steroid dependent. CONCLUSION: Since the patient's condition responded to steroid treatment, and it is clear that steroids inhibit phospholipase activity, the authors speculate that the subsequent decreased endoperoxide production may diminish lipid uptake by macrophages via decreasing modification of LDL or other lipid sources.
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ranking = 2.7309798184783
keywords = macrophage
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4/26. Clinical manifestation of poems syndrome with features of connective tissue disease.

    The POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes) syndrome is a rare plasma cell disease with multiorgan involvement and varying clinical manifestations. We report a 38-year-old man who presented with scleroderma-like skin changes of the hands and feet, sicca and Raynaud's syndrome, pleural effusions, glomerulopathy, polyneuropathy, hepatosplenomegaly and lymphadenopathy. Steroid treatment was started on the assumption of a connective tissue disease and led to a temporary improvement. During the further course of the disease, hypothyreosis, monoclonal gammopathy and osteosclerotic bone lesions were detected, leading to the diagnosis of poems syndrome. This case emphasises the need to consider poems syndrome as a differential diagnosis in patients with signs of connective tissue disease and polyneuropathy.
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ranking = 0.014945565640096
keywords = bone
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5/26. Tl-201 uptake in bone and soft tissue involvement of sarcoidosis.

    The authors describe a 38-year-old man who was referred to the nuclear medicine department because of pain and swelling of his fingers in both hands. Tc-99m MDP and Tl-201 scans were performed to evaluate the lesions. A Tc-99m MDP bone scan showed hyperemia and increased uptake in the lesions. A Tl-201 scan showed marked uptake in both early and delayed images in the lesions of his fingers. Bone biopsy and histologic examination confirmed sarcoidosis. This case indicates that Tl-201 uptake can be seen in bone lesions resulting from sarcoidosis.
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ranking = 0.089673393840574
keywords = bone
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6/26. The association of Buschke-Ollendorf syndrome and nail-patella syndrome.

    Buschke-Ollendorf syndrome and nail-patella syndrome are both rare connective tissue disorders inherited in an autosomal dominant pattern and characterized by cutaneous and bone lesions. We describe a 3-year-old boy and his family who showed clinical features of both Buschke-Ollendorf syndrome and nail-patella syndrome. To our knowledge, this association has not been reported previously, suggesting that these two connective tissue disorders may share the same gene location with different mutations or involve different mutated genes that share downstream segments of their signaling pathways. Furthermore, this young patient is also affected by a chronic idiopathic neutropenia usually not observed in Buschke-Ollendorf syndrome or nail-patella syndrome.
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ranking = 0.014945565640096
keywords = bone
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7/26. Kirner's deformity of all fingers in a 5-year-old girl: soft-tissue enhancement with normal bones on contrast-enhanced MRI.

    Kirner's deformity is an uncommon, but characteristic volar-radial incurvature of the distal phalanx of the little finger. We report a 5-year-old girl with dystelephalangy of all fingers. Some members of the mother's family showed dystelephalangy of the little fingers; the father's family history was unaffected. Contrast-enhanced MRI showed enhancement of the soft tissues of the distal phalanges, but no bone deformities. This leads to the assumption that the radial and volar deviation of the distal phalanges is the result of a chronic inflammatory process or a vascularisation disorder of the soft tissue.
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ranking = 0.074727828200478
keywords = bone
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8/26. sarcoidosis in autoimmune disease.

    sarcoidosis is a multisystem granulomatous disease of unknown etiology. sarcoidosis coexisting with connective tissue diseases, once considered rare, complicates various such disorders, including rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, sjogren's syndrome, and the spondyloarthropathies. Symptoms common to sarcoidosis and autoimmune disease include keratoconjunctivitis sicca, weight loss, fever, lymphadenopathy, pulmonary complaints, and cutaneous lesions. Consequently, the diagnosis of sarcoidosis in association with connective tissue disease is often difficult and may require biopsy of the lung, liver, skin, lymph node, muscle, or bone marrow for pathological confirmation. Abnormalities of immune function as well as autoantibody production, including rheumatoid factor and antinuclear antibodies, are seen in sarcoidosis and in connective tissue diseases, suggesting a common immunopathogenic mechanism. The severity and course of sarcoidosis associated with autoimmune disease is variable. The incidence of sarcoidosis in association with rheumatic disease may be underestimated if new symptoms of sarcoidosis are attributed to the primary rheumatic disease and a secondary diagnosis is not pursued.
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ranking = 0.014945565640096
keywords = bone
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9/26. Nonmyeloablative allogeneic bone marrow transplantation for treatment of childhood overlap syndrome and small vessel vasculitis.

    A 13-year-old Caucasian female with a systemic connective tissue disease (overlap syndrome with pulmonary vasculitis) underwent nonmyeloablative allogeneic BMT after failure of prolonged combination immunosuppressives to induce remission. The procedure also included cotransplantation of donor bone chips as a source of stromal cells. The unique protocol allowed good engraftment of hematopoietic (>95%) and bone core stromal cells (>60%). The patient was clinically improved, stable, and off all immunosuppressive medications 36 months post-transplant. To our knowledge, this is the first pediatric nonmyeloablative BMT with cotransplantation of stromal cells solely for treatment of an autoimmune disease.
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ranking = 0.089673393840574
keywords = bone
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10/26. Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture.

    Buschke-Ollendorff syndrome (BOS; McKusick 16670) is an autosomal dominant connective-tissue disorder characterized by uneven osseous formation in bone (osteopoikilosis) and fibrous skin papules (dermatofibrosis lenticularis disseminata). We describe two patients in whom BOS occurred in an autosomal dominant inheritance pattern. The connective tissue of the skin lesions showed both collagen and elastin abnormalities by electron microscopy. Cultured fibroblasts from both patients produced 2-8 times more tropoelastin than normal skin fibroblasts in the presence of 10% calf serum. Involved skin fibroblasts of one patient produced up to eight times normal levels, whereas apparently uninvolved skin was also elevated more than threefold. In a second patient, whose involvement was nearly complete, elastin production was high in involved areas and less so in completely involved skin. Transforming growth factor-beta 1 (TGF beta 1), a powerful stimulus for elastin production, brought about similar relative increases in normal and BOS strains. Basic fibroblast growth factor, an antagonist of TGF beta 1-stimulated elastin production, was able to reduce elastin production in basal and TGF beta 1 stimulated BOS strains. Elastin mRNA levels were elevated in all patient strains, suggesting that Buschke-Ollendorff syndrome may result, at least in part, from abnormal regulation of extracellular matrix metabolism that leads to increased steady-state levels of elastin mRNA and elastin accumulation in the dermis.
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ranking = 0.014945565640096
keywords = bone
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