Rare connective tissue diseases in childhood

Connective tissue disorders can be primary genetic conditions such as Ehlers–Danlos syndrome or Marfan's syndrome leading to increased stretchiness of tissues with hypermobility as a common feature. The term connective tissue disease is used as an overarching category with varied autoimmune conditions such as systemic lupus erythematosus, juvenile dermatomyositis and scleroderma included. They are all frequently multi-system and multi-organ and require early recognition and referral for specialist assessment and treatment. These conditions have major morbidity and even mortality risks if not treated promptly and aggressively. Diagnoses are made primarily on the basis of pattern recognition.