Erasmus Syndrome, An Autoimmunity Paradox: A Case Report and Literature Review

TL;DR

Erasmus syndrome is a rare condition linking silica exposure to systemic sclerosis, with unclear mechanisms and varied symptoms.

Contribution

This case report adds to the literature by confirming ES diagnosis through occupational history and diagnostic evidence.

Findings

ES is clinically similar to idiopathic SSc but has a distinct occupational cause.

Diagnosis requires detailed occupational history and exclusion of other conditions.

Treatment remains organ-specific with no unified consensus.

Abstract

Erasmus syndrome (ES) is a rare condition characterized by the link between crystalline silica exposure, with or without silicosis, and systemic sclerosis (SSc). Although first noted over a century ago, its underlying mechanisms remain unclear. However, it is indistinguishable from idiopathic SSc in the general population. Its clinical presentation is heterogeneous, depending on the affected systems, with notable features, including skin fibrosis, microstomia, telangiectasia, Raynaud’s phenomenon, arthralgia, and interstitial lung disease. Currently, there is no unified consensus on its treatment; however, organ-specific therapy is a reasonable approach. We report the case of a 43-year-old miner diagnosed with diffuse cutaneous SSc, where ES was diagnosed after an exhaustive history was taken, occupational exposure was characterized, differential diagnoses were excluded, and radiological and histopathological evidence of pulmonary silicosis was presented.

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