Clinical characteristics of children with Juvenile Systemic Sclerosis: follow-up of 23 patients in a single tertiary center

BACKGROUND: Juvenile systemic sclerosis (JSS) is a multisystem connective tissue disease characterized by skin fibrosis and internal organ involvement. It has a low prevalence, even in a tertiary facility setting. The purpose of the present study is to describe and analyze the clinical and laboratory characteristics of a group of children with JSS followed in a single center. METHODS: Clinical charts of children with a diagnosis of JSS who were seen at a tertiary referral center between 1995 and 2005 were reviewed. Clinical features were recorded and analysed. RESULTS: Twenty-three patients who met preliminary classification criteria for JSS were included. Age at first symptom attributable to JSS was 6 (1–14) years, The first symptom attributable to JSS was Raynaud's phenomenon in 14 cases. Proximal sclerosis (23 patients, 100%), sclerodactyly (21, 91%), Raynaud's phenomenon (19, 83%), and periungual capillaropathy (17, 74%) were the most consistent clinical findings during follow-up. Respiratory involvement occurred in two thirds of our patients, and it manifested as dyspnea as well as abnormal imaging and/or pulmonary function tests; pulmonary hypertension was an infrequent finding. Dysphagia was the commonest gastrointestinal symptom (9 patients, 39%). The most frequent musculoskeletal symptom was arthralgia (14 children, 6%); symmetrical arthritis was found in 8 (35%) patients. Periungual capillary abnormalities were evident during physical examination in 17 children; capillaroscopy revealed abnormalities in all 19 examined patients. ANA were present in 17 (74%) children: homogeneous pattern was the most frequent (8 patients), nucleolar (5) and speckled (4) were less common. CONCLUSION: Raynaud's phenomenon heralds the beginning of the disease. Capilaroscopy is a major adjuvant in the diagnosis, since autoantibody determination may not offer sensitive and specific markers. Skin and vascular manifestations are the most common clinical features, while internal organ involvement is more rare. Cardiopulmonary disease is the most frequent visceral involvement, leading to significant morbidity.