AIIMS Doctors report a unique case of Erasmus syndrome

The Department of Pulmonary Medicine and Sleep Disorders, All India Institute of Medical Sciences encountered a unique case of Erasmus syndrome, a type of systemic sclerosis. The case has appeared in the journal Lung India.

Erasmus syndrome describes the occurrence of systemic sclerosis in individuals with silica exposure with or without silicosis. Silica exposure is one of the strongest recognized risk factors for the development of systemic sclerosis.

The case refers to a 21-year-old male presenting with complaints of a dry cough and shortness of breath for 5 years. The patient also noticed diffuse depigmentation and hyperpigmentation of the skin for 3 years associated with tightness of skin involving the face, hands, and legs which progressed to involve proximal limbs and trunk for the last 1 year.

There was a history of Raynaud's phenomenon and difficulty in swallowing. He also complained of polyarthralgias involving the small joints of both hands for the last 1 year. There was no history of oral ulcers and proximal muscle weakness. He had been a lifetime never smoker.

The patient had worked as a stone cutter for the last 7 years and had significant exposure to silica dust. There was no past history of tuberculosis and no family history of autoimmune disease.

On examination, diffuse cutaneous thickening, sclerodactyly, and “salt and pepper” pigmentary changes were present. Chest examination revealed bilateral end-inspiratory fine crepitations. Computed tomography scan of the thorax demonstrated mediastinal lymphadenopathy with eggshell calcification and bilateral upper lobe fibrosis.

Pulmonary function test revealed a restrictive defect with a forced vital capacity of 56% predicted. Six-minute walk distance was 430 m, and saturation dropped from 92% to 86% at the end of the test. Antinuclear antibody titers were positive.

In view of significant silica exposure, skin changes suggestive of systemic sclerosis, and radiological findings consistent with silicosis, the final diagnosis was Erasmus syndrome.

Courtesy- Lung India

Systemic sclerosis is a multisystem disorder of unknown aetiology with a female preponderance. It is estimated to occur in 2.3-10 people per 1 million and it is extremely rare in the resident population of Japan and China. It is characterized by three main manifestations: organ-specific autoantibodies, end-organ fibrosis, and small vessel vasculopathy. Environmental and occupational exposures such as vinyl chloride, epoxy benzene, and silica have been associated with causation of systemic sclerosis.

The mechanism of enhanced autoimmune response in patients with silica exposure remains unclear. There is depressed cellular immunity, and adjuvant effect of silica particles on antibody production has been postulated to cause an autoimmune reaction. Silica exposure leads to increased lymphokine production by pulmonary macrophages leading to increased collagen production and chronic inflammation. The risk of disease is more in males exposed to silica as compared to females.

The most effective method for preventing a Raynaud episode is to avoid exposure to cold temperatures. Smoking cessation should be discussed with patients and their families.

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