Overview
Definition:
Eosinophilic fasciitis (EF), also known as Shulman syndrome, is a rare, idiopathic, chronic inflammatory disorder characterized by the symmetrical, progressive thickening and hardening of the skin and subcutaneous tissues, primarily affecting the extremities
It is distinct from systemic sclerosis, though some features may overlap
In children, EF presents with a similar inflammatory process targeting fascial layers, leading to limited joint mobility and characteristic skin changes.
Epidemiology:
EF is exceptionally rare in children, accounting for a small fraction of all EF cases
Incidence data is scarce due to its rarity
It typically affects individuals between the ages of 30-60 years, but pediatric cases have been reported
There is no clear gender predilection, and no specific ethnic predisposition has been identified
Childhood EF often presents with a more acute onset compared to adult forms.
Clinical Significance:
Eosinophilic fasciitis is clinically significant in pediatric practice due to its potential for significant morbidity if misdiagnosed or inadequately treated
The progressive fibrosis can lead to severe joint contractures, functional disability, and cosmetic disfigurement
Early recognition and appropriate management are crucial to halt disease progression and preserve function, making it an important topic for pediatric residents preparing for DNB and NEET SS examinations.
Clinical Presentation
Symptoms:
Sudden or gradual onset of painful, swollen limbs
Progressive hardening and thickening of the skin, often described as "peau d'orange" or woody texture
Limited range of motion at joints, leading to contractures
Symmetrical involvement of arms and legs, often sparing the hands and feet initially
Constitutional symptoms such as fever, malaise, and weight loss can occur, especially with acute onset
Carpal tunnel syndrome is a common complication.
Signs:
Symmetrical, firm, indurated swelling of the extremities, predominantly involving the limbs
Skin appears tight, smooth, and often erythematous or violaceous
Deep palpation reveals woody induration extending to fascial planes
Joint contractures may be evident
Peripheral edema can be present
Absence of Raynaud's phenomenon, significant sclerodactyly, or pulmonary fibrosis usually helps differentiate from systemic sclerosis.
Diagnostic Criteria:
There are no universally established diagnostic criteria for pediatric EF, but a consensus approach involves the presence of: 1
Symmetrical, indurative skin and subcutaneous tissue thickening affecting limbs
2
Characteristic histological findings on deep skin/fascia biopsy (dense eosinophilic infiltration, fibrosis of fascia)
3
Exclusion of other causes of indurative skin changes, especially systemic sclerosis
Presence of peripheral eosinophilia on blood counts is supportive but not essential.
Diagnostic Approach
History Taking:
Detailed history of onset, progression, and character of limb swelling and skin changes
Assess for pain, stiffness, and loss of joint mobility
Inquire about constitutional symptoms like fever, fatigue, and weight loss
Past medical history, including allergies and recent infections
Family history of autoimmune or connective tissue diseases
Medication history is also important.
Physical Examination:
Thorough examination of the skin and musculoskeletal system
Assess skin texture and mobility, noting induration and edema
Evaluate range of motion for all major joints, identifying contractures
Palpate for fascial thickening
Examine for any signs of systemic involvement or features suggestive of other connective tissue diseases
Assess for carpal tunnel syndrome symptoms.
Investigations:
Complete blood count (CBC) with differential to assess for peripheral eosinophilia (often elevated, >500 cells/µL, but can be normal)
Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are usually elevated, indicating inflammation
Autoantibody screening (ANA, anti-Scl-70, anti-centromere, RF) is typically negative or shows low-titer, helping to exclude systemic sclerosis
Skin and fascia biopsy is the gold standard, showing eosinophilic infiltration, fibrosis of subcutaneous tissue and deep fascia
MRI of affected limbs can demonstrate fascial thickening and edema, aiding in diagnosis and extent assessment.
Differential Diagnosis:
Systemic sclerosis (especially limited cutaneous scleroderma and localized scleroderma/morphea)
Localized scleroderma (morphea) - EF typically involves deeper fascial planes and is more diffuse
Granulomatosis with polyangiitis and other vasculitides can cause skin induration
Other causes of peripheral edema and stiffness such as cellulitis, deep vein thrombosis, or arthropathies should also be considered.
Management
Initial Management:
Prompt initiation of treatment is crucial to prevent irreversible fibrosis and contractures
The cornerstone of treatment is high-dose systemic corticosteroids
Early diagnosis and aggressive therapy improve outcomes significantly.
Medical Management:
High-dose oral corticosteroids (e.g., Prednisolone 1-2 mg/kg/day, max 60-80 mg/day) are the first-line treatment
Response is often dramatic, with rapid improvement in pain, swelling, and stiffness
Steroids are gradually tapered over months to years as symptoms improve
Steroid-sparing agents may be used for recalcitrant cases or to facilitate steroid withdrawal
These include methotrexate, azathioprine, mycophenolate mofetil, or cyclosporine
Autologous stem cell transplantation has shown promise in severe, refractory adult cases but is rarely used in children due to risks.
Surgical Management:
Surgical intervention is generally not indicated for the primary treatment of EF
However, surgical release of contractures may be necessary in cases with severe, irreversible joint limitations that do not respond to medical therapy
Release of carpal tunnel syndrome may be required if it is a prominent feature and causes significant neurological deficit.
Supportive Care:
Physical and occupational therapy are essential throughout the course of the disease to maintain joint mobility, prevent contractures, and improve function
Splinting may be used to prevent or correct contractures
Regular monitoring of disease activity and treatment response is vital
Psychological support for the child and family is important given the chronic nature and impact on daily life.
Complications
Early Complications:
Severe joint contractures and loss of function
Acute pain and edema
Carpal tunnel syndrome due to fascial compression
Difficulties with ambulation or fine motor skills
Potential for secondary infections in edematous tissues.
Late Complications:
Chronic joint stiffness and deformities
Persistent functional limitations despite treatment
Skin atrophy and hyperpigmentation or hypopigmentation in affected areas
Risk of relapse after initial remission
Long-term sequelae from prolonged corticosteroid therapy (e.g., growth retardation, osteoporosis, metabolic disturbances).
Prevention Strategies:
Aggressive and timely initiation of anti-inflammatory therapy, primarily high-dose corticosteroids, is the most effective strategy to prevent irreversible fibrosis
Vigorous physiotherapy and occupational therapy to maintain range of motion and prevent contractures are crucial
Regular monitoring for early signs of complications like carpal tunnel syndrome can allow for timely intervention.
Prognosis
Factors Affecting Prognosis:
Early diagnosis and aggressive treatment with systemic corticosteroids are associated with a better prognosis
Rapid response to initial therapy usually predicts a favorable outcome
The extent and duration of disease prior to treatment, as well as the degree of fibrosis, can influence long-term outcomes
Presence of significant contractures at diagnosis may indicate a poorer functional prognosis.
Outcomes:
With prompt and adequate treatment, many children achieve remission or significant improvement in symptoms, with resolution of edema and pain, and improvement in joint mobility
However, some degree of residual skin thickening or joint stiffness may persist in a subset of patients
Most cases resolve within 2-5 years of diagnosis, though relapses are possible.
Follow Up:
Long-term follow-up is essential to monitor for disease activity, assess for relapses, and manage late complications
Regular clinical examinations and laboratory tests (ESR, CRP) are important
Physiotherapy and occupational therapy should continue as needed
Monitoring for steroid-related side effects is critical
Patients should be educated about potential long-term issues and encouraged to report any new symptoms promptly.
Key Points
Exam Focus:
Remember EF as a distinct entity from scleroderma
The key histological finding is eosinophilic infiltration and fascial fibrosis
High-dose corticosteroids are the mainstay of treatment
Emphasize the importance of early intervention to prevent contractures
Peripheral eosinophilia is common but not always present.
Clinical Pearls:
The "woody" or "peau d'orange" texture of the skin is a classic description
Symmetrical involvement of extremities, sparing hands and feet, is typical
Consider EF in a child with unexplained limb swelling, stiffness, and pain, especially with a history of eosinophilia
Prompt referral to pediatric rheumatology is crucial for timely diagnosis and management.
Common Mistakes:
Mistaking EF for localized scleroderma or cellulitis, leading to delayed or inappropriate treatment
Underestimating the severity of fibrosis and its impact on function
Inadequate duration or dosage of corticosteroid therapy
Failure to provide aggressive physiotherapy, resulting in irreversible contractures
Not considering EF in the differential diagnosis of limb swelling and stiffness in children.