Background Juvenile localized scleroderma (jLS) is an orphan disease. Only one large survey looked at the prevalence of extracutaneous involvement (EI), but without a standardised assessment protocol.
Objectives Aim of our study was to assess retrospectively EI and comorbidities (CM) of patients with jLS.
Methods We performed a retrospective chart review of consecutive patients with jLS seen in our centre for paediatric rheumatology from May 1999 until October 2014. We collected information regarding demographics, EI and CM.
Results 108 patients were identified. 85 of them had at least one follow up appointment. Mean time of follow- up of the patients was 36.8 months. Mean disease duration to first visit was 50.4 months (n=101). 70 of the 108 patients (64.8%) patients were female. The subset distribution of jLS (n=108) was 28.7% linear scleroderma of the trunk/limbs and 21.3% linear scleroderma of the head (“en coup the sabre”); 24.1% mixed morphea, 9.3% circumscribed superficial morphea, 8.3% generalized, 7.4% circumscribed deep morphea and 0.9% pansclerotic morphea. Mean age at first visit was 12.6 years and 14 patients were older than 18 years old at the time of their first visit. 46 (43%) of the patients showed extracutaneous manifestations. 47 of the 85 were clinically screened for temporomandibular joint arthritis (TMJ) and 9 (19.1%) showed signs of TMJ- arthritis, of these 9 patients had arthritis on clinical exam, 8 on MRI. 3 patients of 72 (4.2%) who were followed and examined by an ophthalmologist developed anterior uveitis. As clinical consequences of the extracutaneous manifestations 5.5% developed lateral trusion at mouth opening, 4.6% decreased mouth opening, 22.2% contractures and 5.5% restricted joint range in non-TMJ. 13% developed length discrepancy of the effected limb and 5.5% leg dystrophy. No patient developed visual impairment.
49 of the 108 patients showed 43 different comorbidities: 7.4% had juvenile idiopathic arthritis, 0.9% rheumatoid arthritis, 6.5% were diagnosed with allergies and 6.5% of atopic eczema, 4% scoliosis, 3.7% migraine and 1.8% hashimoto-thyreoiditis.
Conclusions This retrospective analysis shows a high incidence of patients with EI like TMJ- arthritis, arthritis and uveitis. We would recommend regular clinical investigations for assessment of arthritis, especially TMJ- arthritis and uveitis at least 6 monthly, as suggested from the PReS Scleroderma working group. The extracutaneous manifestations were most common in linear scleroderma of the trunk/limbs subtype.
Disclosure of Interest None declared