Case history
Case history #1
A 35-year-old woman presents with a 6-month history of painful colour changes of her fingers on exposure to cold. She describes initial pallor, followed by dusky discoloration that is then followed by painful erythema of her fingers. This has been associated with swelling of her fingers as well as arthralgias of the small joints of her hands. She has a history of reflux oesophagitis and moderate dyspnoea on exertion. Physical examination confirms skin thickening and oedema of her fingers, with mild synovitis of the interphalangeal joints, but is otherwise unremarkable. Serological testing reveals a positive test for antinuclear antibodies (ANAs) at a titre of 1:2560, with high titre positivity for anti-U1 ribonucleoprotein antibody.
Case history #2
A 50-year-old man without any significant past medical history presents with a 6-month history of arthritis of the small joints of both hands. He notes morning stiffness of about 1 hour. This has been associated with a non-productive cough and progressive decrease in his ability to climb the 2 flights of stairs to his apartment due to dyspnoea and pain in his thigh muscles. Physical examination is remarkable for the presence of interphalangeal synovitis, with a scaly rash over the palmar surface of his hands and fingers, and proximal muscle weakness. Fine rales are heard in both lung bases, but the remainder of the cardiopulmonary examination is normal. Laboratory tests demonstrate an elevated creatine kinase, negative rheumatoid factor and ANA tests, but a positive anti-Jo-1 antibody, consistent with antisynthetase syndrome.
Other presentations
As the clinical manifestations of overlap syndromes, including mixed connective tissue disease, can affect almost any organ system, the presenting symptoms may be protean. In addition to the common presenting features described, other initial manifestations may be typical of other well-characterised connective tissue diseases, such as the malar rash, cytopenias, and serositis also seen in systemic lupus erythematosus; diffuse scleroderma skin changes typical of the systemic sclerosis spectrum of diseases; and xerostomia and xerophthalmia, seen in Sjogren's syndrome.
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