1 - Unidade de Reumatologia Pediátrica, Pediatria Médica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
2 - Departamento de Pediatria, Hospital Beatriz Ângelo, Loures
3 - Departamento de Neurologia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
4 - Departamento de Neuroradiologia, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
- 29th Paediatric Rheumatology European Society Congress
- Poster
- Publicação sob forma de abstract
Introduction: Juvenile localised craniofacial scleroderma (JLCS) is a rare chronic disease characterised by inflammation and fibrosis of the face and scalp. Linear lesions, called “en coup de sabre” (ECDS), affect the skin and subcutaneous tissue. Parry-Romberg syndrome (PRS) is a diffuse hemifacial atrophy involving the skin, soft tissues and bone, with minimal or absent skin fibrosis, that may occur isolated or associated with ECDS. Neurologic involvement is common (25-50%).
Objectives: Characterisation of patient demographics, neurological manifestations, laboratory and brain imaging findings, treatment and outcomes in children with ECDS/PRS.
Methods: Retrospective case series of children diagnosed with ECDS/PRS from 2008 to 2022. We identified patients with clinical manifestations or skin biopsies consistent with ECDS/PRS.
Results: Eight patients were identified (6 female) with a median age at diagnosis of 9 years (min 6–max 17) and a median time from disease onset of 32 months (min 5-max 37). Two patients were diagnosed with ECDS and PRS, 2 with PRS and 4 with ECDS. The median follow-up time was 7 years (min 1–max 13). Neurological manifestations were present in 4 patients (2 before the soft-tissue lesions - learning difficulties and seizures, and 2 after - migraine with aura and ischemic stroke); all these patients presented an abnormal neurological examination – paresis (4/4), hyperactive deep tendon reflexes (2/4) and language and memory disorders (1/4). EEG was abnormal in 3/4 patients, 2/4 with paroxysmal activity. MRI was performed in all patients, showing intracranial abnormalities in 3: white matter hyperintensities (2), micro-haemorrhages (1), vasculitis (1) and ischemic lesion (1). One patient with seizures displayed no MRI abnormalities. All patients with neuroradiological findings had neurological manifestations and performed a CSF examination showing oligoclonal bands in 3/3 and pleocytosis in 1/3. Laboratory results revealed elevated ESR (≥20mm/h) in 2/8, positive ANA (≥1:160) in 4/8 and other autoantibodies in 3/8. No association was found between autoimmunity and neurologic involvement (p = 0,48). All patients were treated with corticosteroids and methotrexate; 3 needed to repeat corticosteroids due to new neurological findings (2) and new skin lesion (1); 1 also started mycophenolate mofetil after progression of brain lesions on MRI. Two patients needed antiepileptic medications.
Palavras Chave: juvenile localised craniofacial scleroderma, en coup de sabre, Parry-Romberg syndrome, neurological involvement