DIRA

DIRA is a rare, inherited disease that results from a deficiency of IL-1Ra and was initially described in patients from Newfoundland, Holland, Lebanon, and Brazil. Lack of the IL-1Ra leads to unopposed IL-1 activity and chronic pustular skin disease. It begins in infancy and manifests as neutrophilic/pustular skin disease, pathergy, periostitis, multifocal osteomyelitis, oral mucosal lesions, nail dystrophy, and joint/bone pain. Laboratory results show elevated acute phase proteins. Radiographic changes include osteitis of the ribs and long bones and heterotopic ossification with periarticular soft tissue swelling. Treatment with anakinra leads to dramatic improvement and may abort significant morbidity and mortality if recognized early.

DIRA: A New Autoinflammatory Disease

DIRA, DITRA, and New Insights Into Pathways of Skin Inflammation.What’s in a Name?