Cureus 2017 Jun 5;9(6):e1313. Epub 2017 Jun 5.
Department of Medicine, Jinnah Postgraduate Medical Center Karachi Pakistan.
Mixed connective tissue disorder (MCTD) is a multisystem disease with overlapping features of other autoimmune diseases, such as systemic lupus erythematosus (SLE), myositis, rheumatoid arthritis, and scleroderma. MCTD presents with a distinctive antibody in serum known as U1-ribonucleoprotein (RNP). MCTD is quite rare as compared to other connective tissue disorders like SLE, systemic sclerosis, dermatomyositis, and polymyositis. We describe a case of MCTD in a young Asian female of 30 year old. This case highlights rare co-existence of polyneuropathy and autoamputation in MCTD disorder. Trigeminal neuralgia and cranial nerve involvements have been previously reported in MCTD but the findings of polyneuropathy and autoamputation are extremely rare.