Systemic sclerosis (scleroderma): An insight into a rare condition and cause of death

Abstract

Systemic sclerosis is a debilitating and rare autoimmune disease with only approximately 200 cases in Singapore (from 2008-2012). Cardiovascular and pulmonary involvement remain the leading causes of mortality in these patients. We present a 46-year-old Chinese male who was found dead in his home. He had presented to the emergency department with generalised weakness, dysphagia and skin thickening prior to his demise, prompting a presumptive diagnosis of scleroderma. He also had anaemia and mild transaminitis. Significant autopsy findings included thickened skin and extensive adhesions in the pleural cavity. Histological sections showed extensive subendocardial fibrosis with vasculopathy affecting the intramural myocardial vessels as well as pulmonary arterial hypertension. Fibrosis involving the wall of the oesophagus and the dermis was also present. An interesting finding was that of extensive hyalinisation of the lymph nodes in the deceased. Our findings concur with those described previously in literature and the likely cause of mortality in our case was due to extensive cardiac and pulmonary involvement. Most of the mortalities occurring from this condition are not subjected to the coroner's jurisdiction. However, the rare case that presents at the autopsy suite does provide an educational insight to the pathology behind the condition.