Monogenic autoinflammatory syndromes in children: Through the dermatologist's lens

Abstract

Autoinflammatory syndromes are a group of rare disorders of innate immunity characterized by repeated episodes of inflammation without an obvious cause. Many of these disorders have a childhood onset, and present as recurrent fevers, skin lesions, joint pains and other systemic features. Newer autoinflammatory syndromes with previously undescribed clinical phenotypes are being increasingly recognized. Several of these have distinctive cutaneous manifestations, and dermatologists have an important role to play in the diagnosis of these conditions. Recently, molecular basis for many of these diseases has been identified, thus paving the way for novel targeted therapies. Interleukin-1 blockers have been found to be more effective than the conventional immunosuppressants in their treatment. In this article, we focus on the cutaneous features of well-recognized as well as some of the recently described monogenic autoinflammatory syndromes in children.