Rare connective tissue disorders

Most paediatric connective tissue disorders (CTDs) are rare, heterogeneous, and have unknown aetiology. When vascular injury occurs in the setting of a preexisting CTD, it often correlates with disease severity and portends a poorer prognosis. It may involve virtually any organ system and present in a myriad of ways. This review focuses on recent insights into the clinical presentation, pathogenic mechanisms, particularly the role of endothelial injury and the newer therapeutic approaches for rare childhood CTDs.