Objective To characterize early clinical clues and diagnostic barriers in antimelanoma differentiation‐associated gene 5 dermatomyositis (MDA5‐DM), delineate real‐world misdiagnosis pathways, and propose practical diagnostic strategies and red‐flag features to improve timely recognition. Methods We retrospectively analyzed six consecutive patients with anti‐MDA5 antibody‐positive DM (MDA5‐DM) managed at a tertiary referral center (dermatology, rheumatology, and immunology) between January 2023 and June 2024. Early cutaneous phenotypes, initial diagnostic trajectories, misdiagnoses, serology (including anti‐Ro‐52), chest high‐resolution computed tomography (HRCT), pulmonary function testing (PFT), and clinical outcomes were comprehensively evaluated. Results All six patients experienced initial misdiagnosis in nonspecialist settings, most commonly as eczema/dermatitis, systemic lupus erythematosus, chilblains, or panniculitis. Early cutaneous manifestations were heterogeneous and frequently nonspecific; characteristic signs (Gottron’s papules/sign, palmar papules, periungual erythema, and periorbital violaceous edema) were variably present. Interstitial lung disease (ILD) developed in 5/6 patients; one progressed to rapidly progressive ILD (RP‐ILD) with a fatal outcome. Anti‐Ro‐52 antibodies were detected in 3/6 patients, all of whom had ILD. Diagnostic delays primarily stemmed from persistent or seemingly benign inflammatory skin lesions, minimal or absent myositis with near‐normal muscle enzyme levels, limited awareness of MDA5‐DM among nonspecialists, and misattribution of early ILD manifestations to pulmonary infection. Conclusion Timely recognition of MDA5‐DM requires a process‐oriented approach that integrates clinical pattern recognition with appropriate investigations. Systematic inspection for characteristic cutaneous manifestations—particularly Gottron‐related lesions, palmar papules, and periungual erythema—together with early testing for anti‐MDA5 and anti‐Ro‐52 antibodies and prompt chest HRCT/PFT when respiratory symptoms emerge, may substantially reduce diagnostic delay and misdiagnosis. Early multidisciplinary collaboration between dermatology, rheumatology, and pulmonology is crucial to expedite appropriate immunosuppression and improve patient outcomes.
Shi et al. (Thu,) studied this question.
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