Eosinophilic fasciitis (EF) is a rare connective tissue disease characterized by a progressive inflammatory thickening of skin and soft tissues. The diagnosis is based on clinical features, imaging, and biopsy findings. Due to limited experience with pediatric disease, diagnosis and treatment are often challenging. We describe our longitudinal experience in treating children with EF.

Methods:

This is a retrospective study where data were collected on clinical features, laboratory results at diagnosis, disease course, and treatment response. Descriptive statistics were used where appropriate.

Results:

Our series includes 7 patients with EF, with a mean age at diagnosis of 12.4 (+/- 5.1) years and a mean follow-up of 45.1 months (Table 1). All patients had peripheral eosinophilia. Three patients had elevated serum aldolase, one had elevated creatine kinase, and two had abnormal thyroid function at diagnosis.

Six patients had typical biopsy features of eosinophilic infiltration of the fascial layer with inflammatory infiltrates. The remaining patient had non-specific inflammation on biopsy.

Table-1: Demographics and Clinical Presentation

Treatment induction in all patients consisted of high-dose intravenous solumedrol with subsequent oral prednisone or intravenous solumedrol. All patients required methotrexate (MTX) for disease control and 4 required addition of mycophenolate mofetil (MMF). Time to first improvement in any clinical symptom was 3.4 months. Improvement in skin findings and laboratory abnormalities was noted in all patients after treatment with intravenous solumedrol.

Two patients had disease flares. Case 1 had recurrent flares of arthritis at 4 months after steroid wean and after 2.5 months of MTX wean. Case 2 flared with skin lesions after 12 months of MTX wean. Chronic complications included lipodystrophy (3 patients), leg length discrepancy (1), and joint contractures (3) [elbows and ankles (1) and fingers (2)].

Conclusion:

Pediatric EF is challenging to diagnose and treat, mainly due to its rarity and lack of homogeneous clinical experience. This is the largest pediatric case series reported in the last 10 years. Our data show a higher prevalence of distal limb involvement, Raynaud’s phenomenon and asymmetric disease in children, possibly exhibiting a phenotype distinct from classic adult EF. Systemic or visceral involvement was absent in our patients.

Our data confirm the efficacy of corticosteroid as first-line therapy, and suggest a role for MTX as a promising steroid-sparing agent. Our patients often experienced a more severe disease progression compared to adults, requiring escalation of therapy to include one or more steroid-sparing agents. In refractory cases, addition of MMF in our series showed optimistic results leading to remission of EF symptoms.