A case of undifferentiated connective tissue disease: is it a distinct clinical entity?

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SUMMARYBackgroundIn November 2001, a 24-year-old woman with thrombocytopenia and Raynaud's phenomenon presented to our clinic. Her physical examination was unremarkable except for bruising on her legs and arms.InvestigationsLaboratory assays detected the presence of antinuclear and anti-ribonucleoprotein antibodies. Tests for antibodies to double-stranded DNA and for antiphospholipid (lupus anticoagulant and anticardiolipin), anticentromere, anti-Scl-70, and antiplatelet antibodies were negative, as was a Coombs test. An echocardiogram, chest X-ray, and abdominal scan showed no abnormalities. Nailfold digital capillaroscopy revealed minor capillary changes not specific for scleroderma.DiagnosisUndifferentiated connective tissue disease.ManagementThe patient was successfully treated initially with high doses of corticosteroids and azathioprine, followed by rapid dose tapering. Therapy was continued for 2 years and then stopped. Over the next 4 years the patient's disease history was unremarkable, apart from mild Raynaud's phenomenon of the hands and the presence antinuclear and anti-ribonucleoprotein antibodies. The diagnosis of undifferentiated connective tissue disease was confirmed at her most-recent assessment, in October 2007.

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