Mixed Connective Tissue Disorder: A Rare Case Report

Abstract

MCTD is a rare disease with overlapping features of many connective tissue disorder and the presence of positive anti-U1RNP antibodies with anti-ssA (Ro), anti-ssB (La) being negative. We report a case with fever and edema of upper limb and lower limb small joints associated with violaceous discolouration which on further evaluation led to diagnosis of MCTD. A female aged 44 years presented with history of fever of moderate degree with no diurnal variation and subsides on taking medication for 7 days and had also noticed ecchymoses followed by maculopapular rashes (violaceous) associated with tenderness of fingers and toes (more on exposure to cold). On further evaluation led to a diagnosis of MCTD. This case report urges the clinicians to exercise great caution for connective tissue diseases in patient presenting with similar history. This rare case of disease is uncommon in the available literature, especially for this ethnicity or region. This report should be of great interests to all diagnosticians of internal medicine. Keywords: Mixed connective tissue disorder, Raynaud’s phenomenon, sclerodactyly, Anti-U1nRNP antibody, Scleroderma