LAUSR

Autoinflammatory syndromes are characterized by unprovoked, persistent inflammation. We describe a 67-year-old man who presented with severe proctitis, pyoderma gangrenosum, hidradenitis suppurativa and fever, and was found to have a rare variant of the PSTPIP1 gene. The patient had a history of Type 2 diabetes, hypertension and hypercholesterolaemia and was first investigated due to the presence of microscopic faecal blood at the age of 60 years. Adenomas were excised at this time. Four years later, the patient had an intestinal haemorrhage that led to anaemia. Colonoscopy detected ulcerations in the anal canal. The proctitis was self-limiting, but occasional bleeding prevailed. Three years later, palatal and scrotal ulcers were detected (Fig. 1a). The clinical and histological findings were suggestive of pyoderma gangrenosum (Fig. 2a). A week later, pustular lesions appeared on the patient’s buttocks, hips and shoulders (Fig. 1b), and histological analysis supported the diagnosis of hidradenitis suppurativa (Fig. 2b,c). Faecal calprotectin (FCP) level was 3825 μg/g faeces (positive at levels > 100 μg/g). The patient also had a fever of 38 °C. Colonoscopy revealed severe proctitis with deep ulcers (Fig. 1c). Computed tomography of the colon was normal.