What are the other Names for this Condition? (Also known as/Synonyms)

• Diffuse Eosinophilic Fasciitis
• EF (Eosinophilic Fasciitis)
• Shulman Syndrome

What is Eosinophilic Fasciitis? (Definition/Background Information)

• Eosinophilic Fasciitis (EF) is a very uncommon condition that causes the abnormal thickening/scarring of the fascia, which is a band of connective tissues beneath the skin. It is also known as Shulman Syndrome
• Eosinophilic Fasciitis is a progressive condition resulting in thickened skin and soft tissues. The onset of signs and symptoms may be rapid in many individuals; in such cases, EF can be severe
• The cause of Eosinophilic Fasciitis is not well-established, but a variety of predisposing factors, such as autoimmune disorders, infections, and the use of certain medications, have been reported
• Apart from swollen limbs and changes in skin texture, Eosinophilic Fasciitis may cause joint pain and joint contractures. Complications, such as arthritis and carpal tunnel syndrome, may also develop
• Eosinophilic Fasciitis is rare and is associated with a variety of underlying conditions; hence, extensive laboratory tests may be necessary to diagnose the condition. Eosinophilic Fasciitis is also difficult to treat
• Effective treatment measures include corticosteroid therapy in many individuals. In some individuals, low-dose chemotherapy and the use of immunosuppressive agents may be recommended
• The prognosis of Eosinophilic Fasciitis depends upon a variety of factors including the severity of symptoms, complications that develop, and the condition it is associated with. In some individuals, the condition is self-resolving, even if no treatment is provided

Who gets Eosinophilic Fasciitis? (Age and Sex Distribution)

• Eosinophilic Fasciitis is a highly-uncommon disorder and only around 300 cases have been reported in the medical literature
• It may affect individuals of any age category; a wide age range is noted (1-88 years; average age 50 years)
• Both males and females may be affected. Some studies inform that it is more common in females, while other studies point to a slightly male predominance
• Worldwide, individuals of all racial and ethnic groups may be affected. It is more common among the Caucasian race

What are the Risk Factors for Eosinophilic Fasciitis? (Predisposing Factors)

The risk factors for Eosinophilic Fasciitis may include:

• Administration of subcutaneous heparin
• Autoimmune disorders
• Dietary intake of L-tryptophan, in some cases
• Excessive exercising or strenuous physical activity; muscle trauma
• Use of drugs such as phenytoin, simvastatin, etc.
• Variety of infections including those caused by Borrelia species (a type of bacteria)

Eosinophilic Fasciitis can be associated with certain blood disorders such as the following:

• Aplastic anemia
• Hemolytic anemia
• Leukemia
• Lymphoma
• Monoclonal gammopathy of undetermined significance (MGUS)
• Multiple myeloma
• Myelodysplastic syndromes

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Eosinophilic Fasciitis? (Etiology)

• The exact cause of development of Eosinophilic Fasciitis is presently unknown, but it is due to an abnormal inflammation of the fascia and surrounding tissue such as muscle, blood vessels, and nerves. Fascia is a fibrous tissue that is present below the skin
• It is believed to be triggered by a variety of factors that include certain hematological conditions, autoimmune disorders, infections, use of some medications, and certain lifestyle factors

What are the Signs and Symptoms of Eosinophilic Fasciitis?

The signs and symptoms of Eosinophilic Fasciitis may greatly vary from one individual to another. It may have a sudden-onset (within a few days to weeks) and be severe, which may occur usually due to a triggering factor. Or, the onset may occur over several weeks, in which case, the symptoms are generally milder.

The signs and symptoms may include:

• Presence of pain and swelling (inflammation) of the skin tissue
• The affected skin area may become red, tender, and show furrows along the veins
• The upper limbs are often involved; less often, the lower limbs may be involved as well. Usually, the hands and feet remain unaffected
• Sometimes, the trunk may also be involved
• The neck is uncommonly affected; but, involvement of the face and hands are extremely rare
• With time, the involved skin areas become thickened and firm
• Following this, the skin loses its texture and flexibility - it gets a patchy and woody appearance

Systemic involvement is usually not seen; but, in some individuals, the following signs and symptoms may be noted:

• Tiredness
• Muscle pain and joint pain
• Bluish to purple-colored hands and feet
• Burning and tingling sensation
• Unintended weight loss

How is Eosinophilic Fasciitis Diagnosed?

Eosinophilic Fasciitis is diagnosed on the basis of the following information:

• Complete physical examination and thorough medical history evaluation
• Assessment of signs and symptoms
• Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Laboratory tests
  • Complete blood count including eosinophil count
  • Erythrocyte sedimentation rate (ESR) test; the test may show increased ESR levels
  • Serum creatinine kinase test levels; the test may be normal
  • Rheumatoid factor (RF) blood test; RF levels may be elevated
  • Antinuclear antibody (ANA) blood test - ANA levels may be increased
  • Quantitative immunoglobulins test; the test may show increase in the amount of gamma globulins in blood (or hypergammaglobulinemia)
• Imaging studies: Radiological studies, such as MRI scan of the affected region, may show certain characteristic features; serial MRIs may be helpful in monitoring treatment response
• Rarely, PCR studies for Borrelia bacteria may be conducted; the test may be positive
• Test for metalloproteinase 1 enzyme (MMP-1) may show increase of this enzyme, which may be used to monitor disease activity
• Tissue biopsy of the affected region:
  • A biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
  • Eosinophilic Fasciitis affects the fascia and not the skin and/or underlying subcutaneous tissue. Thus, deep biopsy involving the skin, subcutaneous tissue and fascia is often necessary
• Bone marrow biopsy: Bone marrow aspiration and biopsy is performed and sent to a laboratory for a pathological examination, to determine if the bone marrow is involved. Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, histochemical stains, molecular testing, and very rarely electron microscopic studies. However, a bone marrow biopsy is not needed in the early stages of the condition
• A differential diagnosis to exclude the following conditions may be necessary prior to a definitive diagnosis:
  • Eosinophilia myalgia syndrome (EMS)
  • Nephrogenic systemic fibrosis
  • Scleroderma
  • Systemic sclerosis

Note:

• Clinically, there is no Raynaud phenomenon in Eosinophilic Fasciitis, which helps in differentiating it from other disorders showing similar symptoms
• 60-80% of the cases may have peripheral eosinophilia (increased eosinophils in peripheral blood), 20-70% may have hypergammaglobulinemia, and 30-70% may show increased ESR levels

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Eosinophilic Fasciitis?

The complications of Eosinophilic Fasciitis may include:

• Arthritis; there is contraction around the joints resulting in difficult joint movement
• Carpel tunnel syndrome
• The affected skin area can heal with decreased pigmentation or hypopigmentation (vitiligo) or hyperpigmentation
• Severe aplastic anemia

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Eosinophilic Fasciitis Treated?

The treatment measures for Eosinophilic Fasciitis may include the following:

• Corticosteroid therapy with glucocorticoids, such as prednisone, is observed to be effective in a majority of individuals
• Low-dose chemotherapy with methotrexate may be attempted, when corticosteroid therapy is ineffective
• Administration of non-steroidal anti-inflammatory medications (NSAIDs)
• Immunosuppressive therapy using medications
• Use of ultraviolet therapy
• In case of contracted or immobile joints, some individuals may be given physical therapy, or even surgical procedures recommended, to remove the inflamed tissue
• Symptomatic and supportive therapy

It is observed that in 1 in 5-10 individuals, Eosinophilic Fasciitis resolves spontaneously, even if no treatment is provided.

How can Eosinophilic Fasciitis be Prevented?

Current medical research has not established a method of preventing Eosinophilic Fasciitis. However, the following measures may be considered to help lower the risk for the condition:

• Avoid strenuous physical activities (when possible)
• Undertaking early diagnosis and treatment of any associated condition may be beneficial
• Inform your physician if you are allergic to any medication

Regular medical screening at periodic intervals with tests and physical examinations are recommended following a diagnosis of Eosinophilic Fasciitis.

What is the Prognosis of Eosinophilic Fasciitis? (Outcomes/Resolutions)

The prognosis of Eosinophilic Fasciitis is dependent upon the severity of the signs and symptoms and associated complications, if any. Individuals with mild conditions have better prognosis than those with severe symptoms and complications.

• A spontaneous resolution of the condition is observed in a small percentage of individuals (about 10-20%), in the absence of treatment
• With adequate corticosteroid therapy, the signs and symptoms are known to get better. However, in a majority, despite appropriate treatment, it may take several weeks to months to notice any marked changes/improvement in the symptoms
• In general, the prognosis is reportedly worse, if the following are noted:
  • The skin lesions arise at a younger age
  • If the chest and back are involved
  • If extensive fibrosis affects large areas of the body
  • If tissue biopsy indicates extensive fibrosis

Additional and Relevant Useful Information for Eosinophilic Fasciitis:

Raynaud phenomenon is a condition wherein there is abnormal constriction of the arteries causing episodes of decreased blood flow. The condition usually affects the extremities, especially the hands/fingers.