Date of Award

January 2026

Document Type

Open Access Thesis

Degree Name

Medical Doctor (MD)

Department

Medicine

First Advisor

Sarika Ramachandran

Abstract

Anti-PM/Scl is a rare anti-nuclear autoantibody first identified in patients with polymyositis and the scleroderma/myositis overlap syndrome. Due to its low prevalence, the clinical manifestations associated with anti-PM/Scl remain incompletely understood. This study aims to further delineate the phenotype associated with anti-PM/Scl. Anti-PM/Scl positive patients treated at Yale New Haven Health Systems between 2012 and 2024 were retrospectively identified. Chart review was conducted to characterize demographics, skin findings, and extracutaneous manifestations associated with the antibody. Anti-PM/Scl was detected in 64 of the 2867 patients tested. Fifty-seven of these patients met inclusion criteria (i.e. sufficient availability of medical records and age >18). Median age was 58 years, 65.9% were female (n=37), 82.5% were white (n=47), and 15.8% (n=9) were black. Twenty-nine patients (50.8%) presented with one or more cutaneous features and 40 (70.2%) had muscular involvement (table III, table IV). Sclerodermatous skin features were present in 26.3% (n=15) and myositis skin features were present in 22.8% (n=13). 8.8% of the cohort (n=5) concurrently had one or more skin finding characteristic of both scleroderma and myositis. The most common cutaneous features included skin thickening (n=12; 21.0%), alopecia (n=9, 15.8%), malar rash (n=7; 12.3%), mechanic’s hands (n=7; 12.3%), and puffy fingers (n=7; 12.3%). Myalgias and proximal muscle weakness were reported in 54.4% and 43.9% of patients respectively. Articular involvement affected 36 patients (63.2%). Pulmonary manifestations were present in 40.4% (n=23) and included interstitial lung disease (n=23; 40.4%), pulmonary hypertension (n=2; 3.5%), and diaphragmatic weakness (n=2; 3.5%). Features including calcinosis (n=2, 3.5%) and digital pitting (n=2, 3.5%) were rare. The co-occurrence of sclerodermatous antibodies was low (n=3; 5.3%) in our cohort. Patients were ultimately categorized with diagnoses including scleroderma (n=2; 3.5%), polymyositis (n=3; 5.3%), dermatomyositis (n=3; 5.3%), scleroderma/myositis overlap disease (n=6; 10.5%), and other connective tissue or overlap diseases (n=22; 38.5%) (table V). For 36.8% (n=21) of the cohort, anti-PM/Scl positivity was not associated with any specific rheumatologic or connective tissue diagnosis, with 6 of these patients having a diagnosis of interstitial lung disease alone. Patients with the anti-PM/Scl antibody present with a constellation of cutaneous and systemic features. Although historically associated with the scleroderma/myositis overlap syndrome, anti-PM/Scl—in our cohort—underlies a wide spectrum of conditions and may be present in patients without clinically appreciable disease.

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This is an Open Access Thesis.

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