Mixed connective tissue disease (MCTD) is an autoimmune disease with features comparable with systemic lupus erythematosus, scleroderma, and polymyositis. Its manifestations are therefore protean, and the recognition of rare presentations of MCTD can enable an early diagnosis.
A 45-year-old woman presented with severe weight loss and ascites of about 2 months' duration and was examined abroad. The only abnormal laboratory findings were hypoalbuminemia (16 g/L [reference range, 40-45 g/L]) and increased levels of serum cancer antigen 125 (CA-125) (1260 IU/mL [reference range, <65 IU/mL]) and carbohydrate antigen 19-9 (CA-19-9) (62.5 IU/mL [reference range, <30 IU/mL]). Ascitic fluid was transudative without cytological and microbiological abnormalities. Owing to the raised CA-125 and CA-19-9 levels, a magnetic resonance imaging scan was performed, followed by an exploratory laparotomy. No abdominal or pelvic malignancy could be defined. At the same time, there was a gradual onset of pain and paresthesia involving her fingers and toes bilaterally, which was precipitated by the cold. Findings from physical examination on admission showed that the patient was in generalized anasarca, with distal tapering and dry gangrene affecting her fingers (Figure 1) and toes bilaterally.
Au WY, Jim MH, Lam KY, Kwong YL. Digital Gangrene and a Mass in the Heart. Arch Intern Med. 2001;161(2):292-293. doi: