1 - Unidade de Reumatologia Pediátrica, Hospital Dona Estefânia, ULS São José
- Poster em Reunião Internacional – 31st European Paediatric Rheumatology Congress, congresso, 11-14/Setembro/2024 (Gotemburgo, Suécia)
- Publicação em forma de abstract
- Juvenile localized scleroderma: experience of a pediatric rheumatology unit | M Ines Nunes Marques, Inês Madureira, Cristina Henriques, Marta Conde, Margarida P. Ramos - Pediatric Rheumatology Unit , Hospital Dona Estefânia, ULS São José, Lisbon, Portugal | Pediatric Rheumatology 2024, 22(2): PReS24-ABS-1787
Resumo:
Introduction: Juvenile localized scleroderma (LS), also called morphea, is a rare disease characterized by inflammation of the skin and subdermal tissues, triggering fibrosis that can lead leading to functional and aesthetic sequelae. The Pediatric Rheumatology European Society classifies LS into five subtypes: linear (most frequent), circumscribed, generalized, pansclerotic, and a mixed subtype, which includes a combination of two or more subtypes. Between 20-70% of LS patients have extracutaneous involvement (musculoskeletal, neurological, ocular and oral). Approximately 10% of these patients have an additional autoimmune (AI) disease.
Objectives: Characterization of demographics, clinical and complementary findings, treatment and outcome in children with LS, followed in a tertiary reference center for pediatric rheumatic diseases.
Methods: A single center retrospective analysis of children diagnosed with LS from 2008 to April 2024.
Results: Of the 18 patients, 16 were female, with a median age at diagnosis of 7 years (5-18y), and a median time to diagnosis of 2.3y (0.15-15y). The most common form of LS was linear scleroderma (9/18; 6 with head and neck involvement, 2 head and limbs and 1 only the limbs), followed by circumscribed (5/18), mixed (3/18) and generalized morphea (1/18). Half had family history of AI diseases and 4/18 had previous diagnosis of other AI diseases. Regarding extracutaneous manifestations: neurological manifestations were present in 4 patients, all with Linear Head Scleroderma (2 preceding the soft-tissue lesions); 4/18 had limited articular mobility; and 2/18 had Raynaud Phenomenon. At diagnosis, 12/17 had positive ANA (³1:80), 2/17 had positive anti-Scl70 (without evidence of any systemic involvement) and 1/17 had anti-centromere antibody. Confirmatory skin biopsy was performed in 13/17 patients. Regarding treatment, 2/18 achieved remission exclusively with topical treatment (corticoid, tacrolimus).All other patients required systemic immunosuppression and were initially treated with methotrexate (MTX) 12 /16 in combination with glucocorticoids. Five needed repeat pulses of methylprednisolone due to disease flare, and two switched from MTX to mycophenolate mofetil (MMF) due to persistently active disease. Follow-up time ranged from 1 to 14y, with clinical stability at this date.
Conclusion: Our findings are in accordance with LS literature, regarding female predominance, positive personal and family AI history and linear scleroderma being the most common subtype of LS. The preferred DMARD was MTX, with remission in all but two patients who had refractory cutaneous and/or extracutaneous disease; recent studies provide further support for the use of MMF in LS. Studies indicate that pediatric-onset LS has a poorer prognosis than adult-onset LS. Close monitoring of the disease is particularly important in the first 2 years after discontinuation of treatment when disease relapses occur more frequently.
Palavras Chave: Juvenile localized scleroderma; morphea; extracutaneous manifestations; Disease-Modifying Anti-Rheumatic Drugs (DMARD)