Systemic Scleroderma or Paraneoplastic Syndrome?

Abstract

Abstract Introduction. Inflammatory rheumatic diseases are sometimes the first manifestation of neoplasia. Case presentation. A 57 year old female patient, heavy smoker, is admitted to our clinic for 2 days old pulp necrosis of the third finger, right hand, with onset of ischemia 1 week before admission. Other manifestations were Raynaud’s phenomenon, dry mouth, dysphagia and shortness of breath after moderate physical activity with a duration of about 6 months. She was repeatedly followed-up by a pulmonologist with chest computer tomography, which detected a dimensional evolutionary mediastinal lymph node, but not investigated further. The patient had skin thickening of the hands and face, microstomia and an area of dry necrosis of 1.5/1cm in the pulp of the third finger, right hand. Laboratory tests show the presence of antinuclear antibodies with positive anti SS-A antibodies and elevated levels of serum inflammatory markers. Vascular surgery examination excludes thromboangiitis obliterans or other large vessel diseases. The presumptive diagnosis is undifferentiated connective tissue disease with systemic sclerosis and Sjögren syndrome elements, most likely secondary to the mediastinal tumor. Mediastinal biopsy shows a heterogeneous metastasis of unknown origin, and further investigations: immunohistochemistry, multiple gene mutations tests, computed tomography scan of the chest, abdomen, and pelvis, mammography, Papanicolaou test and positron emission tomography scan did not identify the primary tumor, thus delaying oncologic treatment. Conclusion. Case of undifferentiated connective tissue disease with elements of systemic sclerosis and Sjögren syndrome, most probably paraneoplastic, with chest metastasis of unknown origin, in which diagnosis and treatment were delayed due to lack of primary tumor identification.