Systemic scleroderma: a spatiotemporal clustering.

Background And Aims: The aetiology of systemic scleroderma remains poorly understood. Twin studies suggest a low genetic input. Of the incriminated environmental agents, silica and vinyl chloride monomer exposure appear the most convincing. Spatiotemporal clustering has been demonstrated only three times previously. We now report a fourth cluster around Edenhope, western Victoria in terms of numerator and denominator estimates, cumulative incidence, distribution in time and space, and possible aetiological factors.

Methods: Prevalence/cumulative incidence numerator and denominator values were obtained and validated. Each case was age-and gender-matched with two controls. A standardized postal questionnaire was used to obtain data on current, past history, family history, and occupational and non-occupational environmental exposure.

Results: Six systemic scleroderma cases and one mixed connective tissue disease patient with a predominance of scleroderma features were identified. The 5-year cumulative incidence was 6.1/10,000, tenfold higher than the Sydney estimates for a similar, though non-identical time period. The gender ratio was 1:1. No cases were genetically related. A family history of scleroderma was validated in one instance and a family history of Raynaud's was noted in first degree relatives of two cases and one control. In all instances, Edenhope residence preceded disease onset. No one environmental agent was implicated in all cases.

Conclusion: A spatiotemporal cluster of systemic scleroderma was confirmed and validated. It occurred with a tenfold increased cumulative incidence to that expected and also extended beyond the initially defined 50 km radius of Edenhope. The cases identified were not related. Although no one specific environmental agent was identified, the spatiotemporal clustering would be compatible with an agent occurring at relatively high frequency, but with low disease conversion rates, such as silica inhalation (assuming sufficiently small particle size) or reaction to an infective agent.