Systemic sclerosis in childhood: Clinical and immunologic features of 153 patients in an international database

Abstract

Results. Raynaud's phenomenon was the most frequent symptom, followed by skin induration in ϳ75% of patients. Musculoskeletal symptoms were present in one-third of patients, and the most frequently involved internal organs were respiratory and gastrointestinal, while involvement of renal, cerebral, and cardiovascular systems was extremely rare. Antinuclear antibodies were present in the sera of 81% of patients. Antitopoisomerase I (Scl-70) and anticentromere antibodies were found to be positive in 34% and 7.1% of patients, respectively. Involvement of the respiratory, gastrointestinal, and cardiovascular systems was more frequent and occurred earlier in patients who died than in those who survived. Compared with the adult form, juvenile SSc appears to be less severe, with the involvement of fewer internal organs, particularly at the time of diagnosis, and has a less characterized immunologic profile.Conclusion. This study provides information on the largest collection of patients with juvenile SSc ever reported. Juvenile SSc appears to be less severe than in adults because children have less internal organ involvement, a less specific autoantibody profile, and a better long-term outcome.

Incidence of childhood linear scleroderma and systemic sclerosis in the UK and Ireland

“…Childhood scleroderma affected girls more than boys, consistent with the findings of large retrospective studies (7,8). The mean age at onset was 8.3 years for localized disease and 11.3 years for SSc, compared with 7.3 years (7) and 8.1 years (8), respectively, in previous studies.…”

“…The 153 cases of childhood SSc described in the multicenter retrospective study by Martini et al (8) came from 138 responding centers (83 of which had no cases to report), and the mean followup duration was 3.9 years (range 0.2-18.8 years); in other words, these were prevalent cases accumulated over many years, consistent with the very low incidence we have reported.…”

“…Of note is that of 7 cases of SSc, all but 1 had lcSSc, contrary to previous studies of childhood SSc reporting that the majority of cases were dcSSc (8,17,18). The study by Scalapino et al (11) reported that 49 (44%) of 111 children with an onset of symptoms before the age of 16 years had dcSSc and 62 (56%) had lcSSc, with 32 (29%) having an overlap syndrome.…”

“…The term "mixed scleroderma" is used where combinations of different subtypes are present. Two large international studies documenting clinical and immunologic features of juvenile localized scleroderma (7) and of juvenile SSc (8) have been published in the last 3 years, reflecting the increased recognition of the importance of identifying and treating these conditions.…”

“…This leaflet included a description of the 2 different subtypes of SSc, as defined on the basis of the extent of skin involvement: limited cutaneous SSc (lcSSc) and diffuse cutaneous SSc (dcSSc) (15). Following the initial notification, 2 postal questionnaires were sent to all referring clinicians, including a modified Pediatric Rheumatology European Society (PRES) form (7,8). Clinicians completed the PRES form for either localized disease or SSc, as appropriate.…”