Eosinophilic Fasciitis Clinical Presentation

Updated: Dec 06, 2018
  • Author: Peter M Henning, DO; Chief Editor: Herbert S Diamond, MD  more...
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Presentation

History

Classically, patients with eosinophilic fasciitis (EF) present with symmetric swelling of the skin associated with an aching of the affected extremities, which may develop acutely over a period of days to weeks. Eosinophilic fasciitis may also manifest subacutely. In addition, if patients present later in their disease course, they are more likely to have symptoms of induration or fibrosis of the affected areas.

The onset of illness is not accompanied by fever or other systemic symptoms. In up to half of all patients, disease onset follows an episode of strenuous physical exercise or activity. [19]

Neither Raynaud phenomenon nor symptoms of respiratory, gastrointestinal, or cardiac involvement are typically present.

Inflammatory arthritis has been reported and manifests as joint pain, swelling, and morning stiffness. [19, 21]

With progressive fibrosis, patients may endorse limited range of motion due to joint contractures and paresthesias in a distribution pattern consistent with carpal tunnel syndrome.

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Physical

Cutaneous manifestations include the following [19, 21] :

  • The cutaneous manifestations of eosinophilic fasciitis evolve as the disease progresses. In the acute inflammatory stage, cutaneous changes include erythematous swelling and nonpitting edema. These findings are later replaced by skin induration, and, eventually, fibrosis predominates. The affected skin is taut and firmly adherent to underlying tissues. Dimpling, peau d'orange, and venous furrowing, or the "groove sign," can be seen. See the images below.

    The arm of this patient demonstrates the puckered, The arm of this patient demonstrates the puckered, so-called orange-peel or cobblestone skin that may occur in eosinophilic fasciitis.
    The skin of the patient's back appears shiny due t The skin of the patient's back appears shiny due to the stretched dermis overlying an inflamed fascia. Mild diffuse hyperpigmentation is present, along with a U-shaped area of hypopigmentation extending approximately from T10 to L4.
    The skin of the abdomen and breasts is shiny and t The skin of the abdomen and breasts is shiny and taut. The thigh reveals puckering or cobblestoning of the overlying dermis due to scattered retraction from scarred fascia.
  • Other cutaneous changes reported include urticaria, bullae, alopecia, lichen sclerosus et atrophicus, vitiligo, and hyperpigmentation.

  • Cutaneous manifestations are generally bilateral and symmetric. The upper extremity, proximal and distal to the elbow, and the lower extremity, proximal and distal to the knee, are most commonly involved. The trunk and neck can also be involved. Face and hand involvement are rare.

  • A concurrent localized lesion of morphea may be seen in 25% of patients.

Extracutaneous manifestations include the following:

  • Joint contractures represent the most common extracutaneous manifestation of eosinophilic fasciitis, occurring in 50%-75% of patients, and can affect elbows, wrists, ankles, knees, and shoulders. [19, 21] Extensive truncal fibrosis may limit chest expansion. A clawlike deformity of the hand has been described.

  • Inflammatory arthritis was reported in roughly 40% of patients in two series. [19, 21] The knees, wrists, hands, and feet appear to be most commonly involved.

  • Carpal tunnel syndrome is seen in 16%-23% of patients. [19, 21, 22]

  • Clinically significant visceral involvement is rare, limited to case reports. If present, significant visceral involvement should prompt investigation of an alternative diagnosis. When pursued, specific testing with pulmonary function testing, esophagogastroduodenoscopy (EGD), and electromyelography (EMG) may demonstrate subtle or nonspecific abnormalities. [23]

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Causes

The etiology of eosinophilic fasciitis is unknown. The clinical manifestations of eosinophilic fasciitis are the result of an inflammatory response in the affected tissues. As explained above, our current understanding of eosinophilic fasciitis relies on a relatively few case series and case reports. As such, many etiologic factors have been suggested with varying degrees of supporting evidence. It may be possible that any of these factors, alone or in combination, could initiate this inflammatory response.

Several possible triggers have been reported with some consistency. A preceding history of vigorous exercise or trauma has been reported in 30%-50% of patients. [19, 21] Multiple drugs have also been implicated, including simvastatin, atorvastatin, and phenytoin. [24, 25, 26]

Several cases have demonstrated positive Borrelia serologies. The significance of this finding continues to be debated. Spirochetes were visualized by silver stain in 4 patients in one study. [27] These findings have not been repeated. It has been suggested that positive serology for Borrelia represents an epiphenomenon among cases from Borrelia -endemic areas and is insufficient evidence of infection and therefore does not support a causal association. [28]

Eosinophilic fasciitis shares clinical similarities, as well as key differences, with eosinophilia-myalgia syndrome. Some studies have suggested an association between l-tryptophan ingestion and eosinophilic fasciitis. [29, 30] Despite this, there is no consistent association between l-tryptophan or other dietary exposure and eosinophilic fasciitis. As evidence, l-tryptophan use was significantly associated with dyspnea, an uncommon finding in eosinophilic fasciitis cases. In another instance, a patient with eosinophilic fasciitis had used l-tryptophan for several years but had started a formal exercise program 2 weeks prior to disease onset.

Multiple additional etiologic triggers have been suggested by single or infrequent case reports.

As with etiology, eosinophilic fasciitis has been associated with several diseases. [31]

Hematologic diseases have been consistently reported and are supported by large case series and case reports. [19, 21, 32] The spectrum of associated hematologic disease is broad and includes aplastic and hemolytic anemia, thrombocytopenia, myeloproliferative disorders, myelodysplastic disorders, lymphoma, leukemia, monoclonal gammopathy of undetermined significance (MGUS), and multiple myeloma. [32, 33, 34]

An association with thyroid disease has been reported in several cases. [35] Eosinophilic fasciitis has rarely been linked to solid-organ tumors and primary biliary cirrhosis, in addition to several other diseases. These disease associations may suggest a shared pathophysiology of cellular dysregulation and/or autoimmunity.

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