SESSION TITLE: ILD Student/Resident Case Report Posters
SESSION TYPE: Medical Student/Resident Case Report
PRESENTED ON: Tuesday, October 28, 2014 at 01:30 PM - 02:30 PM
INTRODUCTION: Dermatomyositis is a rare inflammatory myopathy defined by characteristic skin manifestations and myositis. A small subset of patients’ with inflammatory myopathy also present with Anti-Synthetase Syndrome, a pentad of symptoms which includes interstitial lung disease, myositis, arthritis, mechanic’s hands, and Raynaud’s phenomenon. We present a case report of dermatomyositis with anti-synthetase syndrome.
CASE PRESENTATION: A 21-year-old African-American male presents with patchy alopecia and pruritic maculopapular rash that spread over his lower face, anterior chest, back, and upper extremities. This evolved to include plaques over his extensor surfaces, associated with characteristic mechanic’s hands, raynaud’s, fever, and weight loss. A skin biopsy showed interface dermatitis with acantholysis (Gottron’s phenomenon). His symptoms progressed to include arthritis, global weakness, chest pain and shortness of breath. MRI of his proximal lower extremities showed patchy myositis. A chest x-ray revealed diffuse infiltrates bilaterally. Pulmonary function testing was relevant for a mild restrictive defect, mild air trapping and moderately reduced DLCO. High-resolution chest CT was significant for an infiltrating pattern consistent with cryptogenic organizing pneumonia. Inflammatory markers and muscle enzymes were moderately elevated, and ANA with a broad serologic workup returned negative. Following EMG testing with results suggestive of mild myopathy, a biopsy was undertaken. He was treated initially with intravenous steroids, IVIG and ultimately tapered to a maintenance regime of low dose daily prednisone in combination with cellcept therapy. Following treatment, muscle enzymes normalized, weakness and dyspnea resolved, and the advancement of his skin lesions arrested. Follow up PFTs and chest CT confirmed significant normalization of prior abnormalities.
DISCUSSION: Dermatomyositis is thought to result from a humorally-mediated microangiopathy arising from antibody formation, triggering complement activation and muscle damage. Anti-synthetase syndrome, though poorly understood, is associated with formation of myositis specific antibodies. Multiple types of pulmonary manifestations have been described in association with this syndrome.
CONCLUSIONS: This case highlights a complex manifestation, clinical diagnosis and successful treatment of a rare subset of an autoimmune disease in an atypical patient. Given the low frequency of dermatomyositis and anti-synthetase syndrome, this report affords a review of the current pathogenesis, possible treatment options and areas for clinical and scientific investigation.
Reference #1: Ernste and Reed. Idiopathic Inflammatory Myopathies: Current Trends in Pathogenesis, Clinical Features, and Up-to-Date Treatment Recommendations. Mayo Clin Proc. January 2013
DISCLOSURE: The following authors have nothing to disclose: Camellia Hernandez, Brian Stout, Michael Keith
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