The retrospective study, titled “Disease course and long-term outcome of juvenile localized scleroderma: Experience from a single pediatric rheumatology Centre and literature review” and published in the journal Autoimmunity Reviews, focused on expanding knowledge on the natural history of the disease, with the goal of ultimately improving its management and treatment.
Researchers reviewed the clinical records of 133 patients diagnosed with juvenile localized scleroderma between January 1991 and December 2016 at the Pediatric Rheumatology Unit of the University of Padova in Italy. The patients were followed for a mean period of 86.6 months.
The mean age at disease onset was 7.5 years, but the time until diagnosis varied, taking up to 6.5 years with a mean diagnostic delay of 1.3 years. The researchers believe that this extended period between disease onset and diagnosis could be due to “the poor recognition of juvenile localized scleroderma clinical picture by primary care physicians.”
Physical examinations revealed that 55.6% of the patients had lesions in the limbs, 41.4% in the head and face, and 39.8% had lesions in the trunk. Of these patients, 77 had skin lesions only in one side of the body (unilateral involvement).
More than half of the patients had mild tissue damage, while 25.4% had moderate lesions and 23% had severe lesions. Almost one-fifth had a functional limitation. In addition, 27.8% of the patients had severe loss of fat tissue in the early stages of the disease, which remained low over the years.
Although this disease is not fatal, it can lead to severe functional impairments, such as joint contractures, limb growth discrepancy, and psychological problems.
“As tissue damage establishes early in disease course a prompt diagnosis and start of appropriate treatment is crucial to control inflammation, to limit and stabilize damage, before it become irreversible,” the team wrote.
The average time interval between diagnosis and the start of treatment was 3.9 months, and mean therapy duration was 25.4 months.
About 81.7% of the patients responded to the first line of treatment, 59.5% of whom did not relapse while 22.2% experienced disease reactivation. A second therapy was found to be effective for 84.3% of the prior non-responders or relapsed patients, but with reports of transitory flares.
Collectively, 84.6% of patients achieved partial remission within the first year of follow-up, 55.6% were in complete remission after five years, 85.7% after seven years, and 82.8% after more than 10 years of follow-up.
The team found that poorer outcomes were significantly linked to delayed diagnosis and effectiveness of the first treatment.
Juvenile localized scleroderma “can be a very aggressive disease with persistent activity after more than 10 years and/or several disease relapses,” the researchers wrote.
“So it is important to closely follow-up patients, particularly in the first 2 years after discontinuation of treatment when disease relapses may occur more frequently,” they said.