Sclerodactyly, Tongue Telangiectasias, Premature Severe Aortic Stenosis, and RNA Polymerase III Autoantibodies in a Patient with Syncope

A 61-year-old male first presented in 2013 for evaluation of syncope, fatigue, and Raynaud's phenomenon affecting his fingers. He had positive speckled pattern anti-nuclear antibodies, but negative anticentromere and anti-topoisomerase I autoantibodies. Examination revealed sclerodactyly (Figure A) with skin thickening distal to elbows and ankles, and telangiectasias on face, hands, lips, and tongue (Figure B). A diagnosis of limited cutaneous systemic sclerosis was made. Premature onset of severe trileaflet aortic valve stenosis was also established by echocardiography based on severely thickened, calcified, and non-mobile cusps (arrows, Figure C and D); peak and mean gradients of 81 mmHg and 52 mmHg, respectively; and valve area of 0.6 cm2 (Figure E). Several years later, when extensive scleroderma-specific antibodies panel became commercially available, serum autoantibodies to RNA polymerase III (targeting epitopes 11 and 155) were the only antibody specificity detected by multiplex line immunoblot assay.