Paediatric scleroderma and related disorders

Abstract

Juvenile scleroderma syndromes, including the systemic and the localized varieties, represent the third most frequent chronic rheumatic conditions in paediatric rheumatology after juvenile idiopathic arthritis and systemic lupus erythematosus. Juvenile systemic sclerosis (JSSc) has a variety of clinical manifestations, sometimes different from the adult form. Children show a significantly less frequent involvement of all organs, except for arthritis and myositis which are slightly more common than in adults. Indeed, the overall clinical outcome is better. In most JSSc cases with fatal course, the disease progression is rapid due to the early involvement of internal organs. The recently proposed classification for JSSc enables earlier and more definite diagnoses and provides clear criteria to standardize the conduct of clinical trials. Juvenile localized scleroderma (JLS), also known as morphoea, is much more frequent than JSSc. It comprises a group of distinct conditions which involve the skin and subcutaneous tissues. They range from very small plaques of fibrosis involving only the skin, to diseases which may cause significant functional and cosmetic deformity, with a variety of extracutaneous features. Monitoring of JLS includes semiquantitative clinical scoring methods, a computerized skin score, infrared thermography, and high-frequency ultrasound. Treatment varies from topical glucocorticoids, calcipotriene, or phototherapy, as in circumscribed morphoea, to systemic drugs when there is a significant risk for disability, as in linear scleroderma and generalized or pansclerotic morphoea. A recent randomized controlled trial has confirmed the efficacy of methotrexate in these conditions or mycophenolate mofetil in refractory cases.