Eosinophilic fasciitis

Epidemiology

This is a very rare disease with only about 100 cases reported. The typical age of onset is around 20 to 60 years of age, although cases in children have been observed. Its prevalence is slight more common in men compared to women with a 1.5:1 ratio, although more studies still need to be done.

Causes

Most cases are idiopathic, however some have been associated with:

• strenuous exercise,
• initiation of hemodialysis,
• infection with Borrelia burgdorferi,
• certain medications, such as statins, phenytoin, ramipril, and subcutaneous heparin
• other autoimmune diseases, such as systemic sclerosis, systemic lupus erythematosus, and Sjogren syndrome
• hematologic disorders such as aplastic anemia, multiple myeloma, chronic lymphocytic leukemia, other leukemias and lymphomas

Signs and symptoms

Because the disease is rare and clinical presentations vary, a clear set of symptoms is difficult to define. The main symptoms are pain and swelling to the distal extremities. Initial presentation usually involves symmetrical swelling and thickening of the skin to the forearms and lower legs, with associated pain and erythema. The hands and feet are typically spared. As the disease progresses, the skin texture starts puckering and gives an "orange peel" appearance. Systemic symptoms such as fever and generalized fatigue can also present. Other common features include fibrosis of the skin, joint pain, and secondary carpal tunnel syndrome due to compression of the median nerve.

Diagnosis

Since this condition has many similarities with other autoimmune diseases, the first step is to exclude other conditions such as systemic sclerosis. The key to diagnosis is the observation of skin changes in combination with eosinophilia, but the most accurate test is a biopsy of skin, fascia, and muscle.

Major criterion

• symmetrical "plate-like" sclerotic lesions in the distal extremities (with no signs of Raynaud phenomenon and exclusion of systemic sclerosis)

Minor criteria

• histology of a skin biopsy shows fibrosis of the subcutaneous connective tissue, with thickening of the fascia and eosinophilic infiltration
• Imaging tests such as magnetic resonance imaging (MRI) shows thickening of the fascia

Definitive diagnosis is made if the patient meets the major criterion and at least 1 of the 2 minor criteria.

Treatment

First-line treatment include oral corticosteroid therapy. Most patients have a favorable course as the dose is tapered gradually in 1–2 years. Second-line include therapy include disease-modifying anti-rheumatic drug (DMARD) such as hydroxychloroquine, methotrexate, cyclosporine, cyclophosphamide. Patients usually have good prognosis with early initiation of treatment if there is no visceral involvement.

References

References

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3. [http://www.merckmanuals.com/professional/musculoskeletal_and_connective_tissue_disorders/autoimmune_rheumatic_disorders/eosinophilic_fasciitis_ef.html Merck Manual, Professional Edition, Eosinophilic Fasciitis]
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10. (January 2008). "Eosinophilic fasciitis: demographics, disease pattern and response to treatment: report of 12 cases and review of the literature". International Journal of Dermatology.
11. (January 2023). "Eosinophilic Fasciitis: Current and Remaining Challenges". Int J Mol Sci.
12. (2006). "Eosinophilic fasciitis 30 years after - what do we really know? Report of 11 patients and review of the literature". Dermatology.
13. (May 1988). "Eosinophilic fasciitis: clinical spectrum and therapeutic response in 52 cases". Seminars in Arthritis and Rheumatism.
14. (February 2011). "Iron Lady: A Case of Eosinophilic Fasciitis". Journal of Medical Case Reports.