Clinical Course and Outcome in Children With Rare Connective Tissue Diseases: A Retrospective Review of a 17-Year Experience

Abstract

INTRODUCTION: Juvenile dermatomyositis/juvenile polymyositis (JDM/JPM), juvenile systemic scleroderma (JSCL-SYST), and juvenile mixed connective tissue disease (JMCTD) are rare in childhood. OBJECTIVE: The objective of this study was to evaluate the prognosis of the rare connective tissue diseases (RCTDs) in children, METHODS: We reviewed the medical charts of children with a diagnosis of RCTD since 1989 and a minimum follow-up of 5 years. RESULTS: Twenty-four (16 female, 8 male) children with JDM/JPM, JSCL-SYST, and JMCTD were studied. The age at disease onset ranged from 4 to 13 years. The follow-up duration was 5 to 12 years. Sixteen children had JDM, and 2 had JPM. Four had JSCL-SYST, and 2 had JMCTD. Until now, 13 children have reached clinical remission, lasting >3 years after stopping drug therapy. Twelve children had JDM/JPM, and 1 had JMCTD. Persistent disease activity was noted in 11 children: 4 with JSCL-SYST, 6 with JDM/JPM, and 1 with JMCTD. Severe pulmonary disease developed in 3 children: 2 with JSCL-SYST and 1 with JMCTD. None of the children with JDM had pulmonary disease. Pulmonary hypertension (PH) was found in 2 children with JMCTD or JSCL-SYST. The child with JSCL-SYST and PH died. Persistent scleroderma pattern by wide-field capillaroscopy was noted in 4 children who had JDM and had had skin ulcerations and have developed subcutaneous calcifications. One of them has also had marked muscle atrophy and severe contractures. CONCLUSIONS: Persistent activity and/or severe pulmonary involvement may be present during the clinical course of RCTD. The presence of PH indicates very poor prognosis in JSCL-SYST/JMCTD cases. Capillaroscopy may identify children who have JDM and are candidates for aggressive therapy.