Progressive Contractures due to Eosinophilic Fasciitis in a 17 year old Male
Eosinophilic fasciitis (EF) is a multi-system, inflammatory disorder of uncertain aetiology, typically characterised by cutaneous abnormalities mimicking scleroderma. A purely musculoskeletal syndrome at onset has rarely been reported. Here we describe a case of EF presenting with advanced painless joint contractures and normal skin examination.
A 17-year-old white male was referred for specialist evaluation due to difficulty walking. His symptoms began eight weeks prior with mild, bilateral, distal leg discomfort, followed by stiffness and inability to fully extend his knee and elbow joints. Previous medical history was unremarkable. He had consumed creatine monohydrate to aid muscle growth for sports two months prior to symptom onset but otherwise took no regular medications. On examination he was noted to toe-walk with symmetrical joint contractures involving ankles, knees, hips, shoulders, elbows and fingers. He exhibited a positive prayer sign indicating limited joint mobility in his fingers. There were no skin abnormalities. Laboratory investigations revealed an eosinophilia of 5.68 x 109/L and C-reactive protein was elevated at 38 mg/L. Creatinine kinase was within normal limits and serum autoantibodies were negative. MRI of femur demonstrated oedema and abnormal enhancement along all of the fascial planes surrounding the pelvic and thigh muscles. Skin, fascial and muscle biopsy demonstrated dense chronic inflammatory cell infiltrate affecting the perimysial connective tissues with abundant eosinophils. He was initially treated with methylprednisolone one gram intravenously for five days followed by 1mg/kg/day oral prednisolone which was tapered. Subsequently, weekly methotrexate was added as a steroid-sparing agent and intermittent intravenous immunoglobulin (IVIG) infusions were administered. At 6 months from treatment initiation joint contractures were reduced by over 95%.
The mean age of onset of EF is typically between 40 and 50 years with both sexes equally affected1. Potential triggers for the disease include intense physical exertion and L-tryptophan use2. To our knowledge, creatine monohydrate supplementation has not previously been reported as an aetiologic factor and it is unclear whether it or undefined supplement contaminants contributed to disease pathogenesis here. Flexion contractures occur in up to 56% of EF cases3 but painless contractures have rarely been reported4,5. A scleroderma-like illness is more typical with skin induration being a feature in all patients in one case series1. Thyroiditis, peripheral neuropathies and haematological disorders can also be found in association with EF6. Blood eosinophilia occurs in approximately 63% of patients with EF. MR with gadolinium enhancement is the imaging modality of choice, showing increased signal in the subcutaneous and deep fascia7. Incisional biopsy typically demonstrates infiltration of subcutis and deep fascia with lymphocytes, plasma cells, histiocytes and eosinophils. Sclerosis ensues with disease progression8. Our patient showed a favourable response to combined corticosteroids, methotrexate and IVIG, in keeping with the experience of others9. This case highlights that EF should be considered in both young and older patients presenting with painless contractures even when skin examination is normal.
C Kirby, M Marnane, N Bermingham, B Sweeney,
Neurology Department, Cork University Hospital, Wilton, Cork
- Bischoff L, Derk CT. Eosinophilic fasciitis: demographics, disease pattern and response to treatment: report of 12 cases and review of the literature. International journal of dermatology. 2008;47:29-35.
- Pinal-Fernandez I, Selva-O’ Callaghan A, Grau JM. Diagnosis and classification of eosinophilic fasciitis. Autoimmunity reviews. 2014;13:379-82.
- Lakhanpal S, Ginsburg WW, Michet CJ, Doyle JA, Moore SB. Eosinophilic fasciitis: clinical spectrum and therapeutic response in 52 cases. Seminars in arthritis and rheumatism. 1988;17:221-31.
- Huppke P, Wilken B, Brockmann K, Sattler B, Hanefeld F. Eosinophilic fasciitis leading to painless contractures. Eur J Pediatr. 2002;161:528-30.
- Pillen S, van Engelen B, van den Hoogen F, Fiselier T, van der Vossen P, Drost G. Eosinophilic fasciitis in a child mimicking a myopathy. Neuromuscular disorders : NMD. 2006;16:144-8.
- Haddad H, Sundaram S, Magro C, Gergis U. Eosinophilic fasciitis as a paraneoplastic syndrome, a case report and review of the literature. Hematology/oncology and stem cell therapy. 2014;7:90-2.
- Moulton SJ, Kransdorf MJ, Ginsburg WW, Abril A, Persellin S. Eosinophilic fasciitis: spectrum of MRI findings. AJR American journal of roentgenology. 2005;184:975-8.
- Barnes L, Rodnan GP, Medsger TA, Short D. Eosinophilic fasciitis. A pathologic study of twenty cases. The American journal of pathology. 1979;96:493-518.
- Lebeaux D, Sene D. Eosinophilic fasciitis (Shulman disease). Best practice & research Clinical rheumatology. 2012;26:449-58.