Erasmus syndrome: A rare case report

Introduction

Inhalation of silica leads to multiple occupational and environmental illness. 1 Among which silicosis is most common, apart from silicosis it may manifest autoimmune disease like systemic sclerosis.2 Erasmus syndrome is a very rare progressive occupational disease caused by inhalation of crystalline silica where there is development of progressive systemic sclerosis. 3 Here we present a case of 52 years stone crusher who was misdiagnosed as tuberculosis but subsequently diagnosed as Erasmus syndrome.

Figure 1

Loss of forehead wrinkling, patchy depigmented and pigmented areas suggestive of Salt and pepper dermopathy

Figure 2

Skin fixity of hands and digits with apparent clawing and patchy pigmented and hyperpigmented areas over hands

Figure 3

Chest X-ray showing bilateral upper andmidzones Micronodules (left &; right)

Figure 4

A&B: HRCT thorax showing multiple subpleural and centrilobular nodules in bilateral upper, lower lobes and right middle lobe and progressive massive fibrosis there is also bronchial dilatation and fibrosis

Figure 5

A & B: Mediastinal window of HRCT chest showing irregular pleural thickening with calcification, calcified right hilar and mediastinal lymphadenopathy

Case Presentation

A 52 years old male patient presented with increasing breathlessness on physical exertion, and tightening of skin over the fingers and forearms (for last 12 months), sporadic bluish discoloration of fingers on exposure to cold (suggestive of Raynaud’s phenomenon), as well as low grade irregular fever and unproductive cough (for last eight months). There was no history of arthralgia, chest pain, dysphagia, haemoptysis, and loss of appetite or weight loss or reflux disease. He was non-smoker and had no history of hypertension or diabetes mellitus. He worked as a stone crusher for nearly 22 years and was forced to leave that job nine months back due to excessive breathlessness. Treatment history revealed his treatment with anti-tubercular therapy four times at various local hospitals but he never completed a course due to gastrointestinal intolerance. Other than that, there was no other significant drug history. He had no family history of similar complaints.

General examination revealed no clubbing, pallor or cyanosis. There was loss of wrinkling over forehead, facial dry skin with irregular hypopigmentation and depigmentation suggestive of salt and pepper dermopathy (Figure 1). Digital examination revealed apparent clawing of fingers due to skin fixity. There was also thickening of skin over fingers and forearm and hypopigmented patchy areas over the dorsum of his hands (Figure 2). Joints of the upper and lower extremities were non-tender. There was no calcinosis cutis. Examination of respiratory system revealed vesicular breath sounds both side and inspiratory coarse crepitation over bilateral infraclavicular, mammary, suprascapular and infrascapular areas. No abnormalities were detected on cardiac and abdominal examinations.

Discussion

Systemic sclerosis is a multisystem autoimmune disorder of idiopathic aetiology manifested vasculopathic changes, and diffuse tissue fibrosis in multiple organs such as lung, heart, kidney and gastrointestinal tract, as well as skin. It is predominantly found in females. However, males have a more severe expression of disease and higher mortality. 1 It may be caused by environmental and occupational exposures to vinyl chloride, organic solvent, and seldom by silica.

Silicosis is a type of pneumoconiosis. It is an occupational disease characterised by irreversible lung fibrosis because of crystalline silica inhalation, retention, and pulmonary reaction among workers in mining, quarrying, masonry and sand blasting sectors. Silicosis is frequently linked with tuberculosis (silico-tuberculosis), lung carcinoma and occasionally related with systemic sclerosis (silica associated systemic sclerosis -SA-SS), systemic lupus erythematosus and rheumatoid arthritis. 2

Exposure to silica affects both humoral and cellular immunity, hypergammaglobulinemia and results in increases in antinuclear antibody and positive rheumatoid factor, as well as T-helper and T-suppressor lymphocytes.3 Moreover, continual exposure to silica results in changes in soluble interleukin-2 (IL-2) receptors. Elevated lymphokines can either trigger collagen synthesis directly or prompt other cells (like monocytes or mast cells) to release factors that further stimulate collagen production in fibroblasts. This assertion is corroborated by heightened levels of soluble IL-2 receptors observed in individuals with systemic sclerosis. It is postulated that silica could activate monocyte to release fibroblast proliferative factors (such as cytokine IL-1, 6, and TNF alpha), which in turn promotes collagen production, resulting in cutaneous sclerosis, vascular occlusion, and pulmonary fibrosis.. 4

In 1914 Bramwel first observed the association of previous exposure to silica and later development of systemic sclerosis.5 Subsequently, Erasmus in 1957 demonstrated a notable occurrence of progressive systemic sclerosis (PSS) among gold miners exposed to dust containing a significant proportion of free silica (±30%). Later on, Devulder et al. in 1977 explored the link between silica and systemic sclerosis, suggesting the term "Erasmus syndrome" to describe the concurrent presence of silicosis and PSS.6

In India, the initial instance of "Erasmus syndrome" (silicosis-induced systemic sclerosis) was documented by Khanna et al. in 1997.7 Following that, three additional cases were also documented. 8, 9, 10

Conclusion

Erasmus syndrome is a sporadic progressive disease caused by inhalation of crystalline silica, where there is development of progressive systemic sclerosis, which leads to progressive dyspnoea and multiple symptoms. There might be associated interstitial lung disease or severe restrictive lung disease over silicotic lung. Sometimes, pulmonary hypertension could be developed which can complicate the morbidity of silicosis. Therefore, while dealing with the systemic sclerosis occupational exposure to silica to be searched and while dealing with silicosis features of systemic sclerosis to be looked for as well as serological testing must be ordered to detect early Erasmus syndrome.

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Source of Funding

None.

Conflicts of Interest

There are no conflicts of interest.

Acknowledgments

Contributors: CKS, SP: clinical care of the patient. SC, CKS: compiling data and interpretation, figures, manuscript writing. PD, RM &; CKS: revision and final approval of manuscript. Final approval of the version published has been agreed by SP, RM, PD, SC & CKS.