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Abstract

Eosinophilic fasciitis (EF) is a rare dermatologic disease with clinical similarities to localized scleroderma and systemic sclerosis (SSc). Diagnosing EF is challenging due to overlapping clinical features among these conditions. Differentiating EF from localized scleroderma and SSc can be aided by laboratory tests, histopathological examination, and imaging studies. The diagnosis of EF specifically requires the exclusion of SSc and typically requires magnetic resonance imaging or en bloc fascial biopsy of affected areas.
Here, the authors present a 75-year-old woman with a painful, violaceous rash on the legs and abdomen, leg swelling, and tightness around her upper abdomen. Review of systems revealed decreased appetite, unintentional weight loss, and shortness of breath on exertion. Physical examination showed a faint violaceous rash on the abdomen and legs as well as abdominal distention. The patient’s clinical picture was complicated by worsening of the rash, development of chronic cough, continued unintentional weight loss, decreased appetite, early satiety, dry eyes, and dry mouth. An autoimmune process was considered, and the patient was seen by rheumatology, where an appropriate workup excluded localized scleroderma and SSc. EF was suspected and supported by magnetic resonance imaging findings showing fascial edema. En bloc fascial biopsy of the right thigh did not reveal classic EF findings.

Introduction

Eosinophilic fasciitis (EF) is a rare dermatologic disease with an unknown etiology, a challenging clinical presentation, and insufficient evidence for the best medical treatment. EF is presumed to be an autoimmune disease on the spectrum with localized scleroderma (also known as morphea), a rare and idiopathic inflammatory skin condition.1,2 Both diseases can present with scleroderma-like indurated plaques involving the upper and lower extremities.1 Systemic sclerosis (SSc), an autoimmune disease causing fibrosis and vasculopathy of the skin and internal organs, can also present in a similar fashion. Due to the shared presentation of these 3 diseases, the diagnosis of EF is challenging.
Here, the authors present a case of EF that was diagnosed using a collaborative approach facilitated by the patient’s membership in an integrated health care system. The authors discuss the challenges of diagnosing EF, provide an overview of differential diagnoses, and discuss treatment strategies.

Case Patient Presentation

A 75-year-old White woman presented to the family medicine clinic for a painful, violaceous rash on the legs and abdomen, leg swelling, and tightness around her upper abdomen. Medical history was noncontributory. Review of systems revealed decreased appetite, unintentional weight loss, and shortness of breath on exertion. Physical examination revealed a faint violaceous rash on the abdomen and legs as well as abdominal distention. Comprehensive laboratory testing and a noncontrast computed tomography (CT) of the chest/abdomen/pelvis were ordered. A referral was placed to dermatology. Laboratory results showed C-reactive protein elevated to 21.5 mg/L and eosinophilia (1.1 × 109/L). CT was noncontributory.
Two weeks after the initial visit, the patient was seen in an outpatient dermatology clinic for the rash on the legs and abdomen. Further history revealed that the rash was preceded by severe swelling and began after recent domestic travel. Physical examination found diffuse xerosis of the legs and abdomen and the patient was diagnosed with xerosis cutis and advised gentle skin care and emollient use.
The patient was seen in a pulmonary disease clinic 1 month after her initial visit for a chronic cough and continued unintentional weight loss. History was notable for continued upper abdominal tightness. Review of systems revealed decreased appetite and early satiety. The patient was referred to gastroenterology and prescribed 20 mg of omeprazole twice daily. Follow-up at the family medicine clinic 2 months after the initial presentation revealed that the patient continued to experience unintentional weight loss and ongoing rash on the legs and abdomen. The patient reported new tightening on her legs and a recent-onset dry mouth and dry eyes. The patient was encouraged to fulfill her gastroenterology referral for an endoscopy and colonoscopy. Endoscopy showed mild gastritis, and the colonoscopy was unremarkable.
Four months after the initial visit, the patient returned to the family medicine clinic for worsening, painful lower leg tightness. A referral was placed to rheumatology and dermatology. The patient was seen in a rheumatology clinic 4 months after the initial visit for the painful, taut violaceous rash of the arms, legs, and torso and worsening dry mouth and dry eyes. The patient denied involvement of the face, neck, hands, and feet. Review of systems revealed a 25 lb weight loss in the preceding 7 months and decreased bilateral knee flexion. Review of systems was negative for Raynaud’s phenomenon. Physical examination was notable for indurated skin of the bilateral upper and lower extremities and abdomen and peau d’orange appearance of the skin of the upper arms and bilateral shins (Figure). No sclerodactyly was noted. The patient was suspected to have EF. Comprehensive rheumatologic laboratory tests were ordered and showed continued C-reactive protein elevation to 9.6 mg/L and erythrocyte sedimentation rate elevated to 33 mm/Hr. Eosinophil count was typical. Anticentromere, antitopoisomerase-I, anti-SS-A, and anti-SS-B antibodies were negative. Multiple magnetic resonance imaging (MRI) scans of the bilateral upper and lower extremities were ordered, and a general surgery referral was placed for en bloc fascial biopsy. MRIs showed fascial edema of the bilateral distal arms and chest wall consistent with fasciitis. Focal intramuscular edema of the medial left gastrocnemius was appreciated, alongside myofascial edema and symmetric subcutaneous edema of the bilateral posterior lower leg compartments.
Figure: (A) Indurated skin of the bilateral lower legs and (B) peau d’orange appearance of the left upper arm.
Follow-up in the family medicine clinic 5 months after the initial visit was notable for worsening tightening of the lower legs. Physical examination was similar to the previous examination in the rheumatology clinic, with the addition of anterior chest and proximal neck induration. The patient was then seen in dermatology. Review of systems revealed joint contractures, joint pain, and myalgias, with continued endorsement of dry mouth and dry eyes. Physical examination was notable for firm, indurated plaques on the arms, abdomen, lower back, and lower legs with peau d’orange appearance. The patient’s dermatosis was favored to be EF, despite en block fascial biopsy of the right thigh showing no definitive evidence of EF. The patient was started on 50 mg prednisone taken daily by mouth alongside sulfamethoxazole/trimethoprim 800/160 mg taken 3 times weekly by mouth and alendronate 60 mg taken 1 time weekly by mouth. Follow-up at the rheumatology clinic 6 months after the initial presentation showed clinical improvement in signs and symptoms of EF, including decreased peau d’orange appearance on the shins, decreased tightness overall, and improved joint range of motion. At the time of writing, 7 months after diagnosis, prednisone was being tapered and the patient had no signs of disease relapse.

Differential Diagnosis

EF presents similarly to localized scleroderma and SSc. All 3 diseases can present with indurated plaques involving the upper and lower extremities. EF can be differentiated from these conditions by clinical, laboratory, and histopathological findings. Clinically, EF presents as a symmetrical, bilateral circumferential swelling and induration of the bilateral upper and lower extremities.1 The involvement in EF occurs predominantly on the distal extremities (forearms, lower legs) but can also spread proximally and centrally to involve the trunk. It generally spares the hands, feet, and face.2 Early in the disease course, EF can present with prominent swelling, pain, and redness. Fever and fatigue are present in most patients.2 Induration becomes more prominent in later stages.1 The skin of affected areas can exhibit a peau d’orange appearance due to edema of the underlying deep dermis, subcutaneous tissue, fascia, and/or muscle. A characteristic “groove sign” appears on elevation of affected limbs due to depression of the superficial veins overlying the fascial edema.3 The peau d’orange appearance and groove sign in EF can differentiate it from localized scleroderma and SSc. Additionally, EF presents symmetrically and bilaterally, whereas localized scleroderma presents unilaterally.1 Importantly, EF can be complicated by localized scleroderma in 20% to 30% of cases.1 Clinically, EF can be differentiated from SSc by the absence of Raynaud’s phenomenon, sclerodactyly, and by the absence of nail fold capillary abnormalities. EF rarely affects internal organs, in contrast to SSc.3 Moreover, the skin in SSc is smooth and shiny (in contrast to the peau d’orange appearance in EF) and can affect the hands, feet, and face, whereas these areas are spared in EF.2 Differentiating EF from SSc is integral, as the diagnostic criteria for EF include the exclusion of SSc.2
EF can also be differentiated from localized scleroderma and SSc by laboratory findings. Eosinophilia is present in most (63%–86%) patients with EF, although it is not required for diagnosis and can appear transiently during the acute stages of the disease.3 Eosinophilia is rare in SSc (~ 7%) and atypical in localized scleroderma.3,4 Erythrocyte sedimentation rate can be elevated in EF, although specific SSc markers (anti-RNA polymerase III, antitopoisomerase-I, anticentromere antibodies) are usually absent but can be positive in 15% to 20% of patients.2,3 EF can present with positive antinuclear antibody or rheumatoid factor in 10% of cases and elevated serum aldolase in 60%, the latter of which can serve as a marker of disease severity (Table).1,3
Table: Diagnosis of Eosinophilic Fasciitis (EF).
Indurated plaques involving the extremities
Likelihood of EFClinical findingsLaboratory findings
EF more likely if- Bilateral and symmetric extremity involvement
- Proximal > distal extremity involvement
- Spares the hands, feet, and face
- Peau d’orange appearance
- Groove sign
- Eosinophilia (can be transient)
- Elevated C-reactive protein
- Elevated aldolase
EF less likely if- Unilateral extremity involvement
- Presence of Raynaud’s phenomenon, sclerodactyly, or nail fold capillary abnormalities
- Internal organ involvement (eg, esophageal dysmotility, pulmonary arterial hypertension, interstitial lung disease, scleroderma renal crisis)
- Positive SSc antibodiesa (anti-RNA polymerase III, antitopoisomerase-I, anticentromere)
When EF is more likely, proceed with MRI testing and en bloc fascial biopsy.
a
Elevated in 15% to 20% of patients with EF.
EF, eosinophilic fasciitis; SSc, systemic sclerosis.
The gold standard diagnostic tool for EF is en bloc skin to fascial biopsy.2 Histopathology usually reveals fascial edema and inflammatory cell infiltration by plasma cells and lymphocytes; eosinophilic infiltration may be present in early stages.1 Moreover, the diagnosis of EF can be made in the absence of classic histopathological findings. In such cases, an MRI of the involved areas can be used to support the diagnosis. MRI in EF reveals fascial edema and inflammation.3 MRI may also guide the selection of optimal biopsy sites. Further, MRI can be used to evaluate disease activity and response to treatment.1,3 In cases where MRI is unavailable or contraindicated, a CT scan, positron emission tomography scan, or ultrasound should be ordered.2,3

Clinical Reasoning

EF was the leading diagnosis based on clinical, laboratory, and imaging findings. The patient’s initial presentation was challenging due to nonspecific symptoms (eg, lower leg swelling, shortness of breath) superimposed on an equivocal presentation of EF (eg, painful rash of the lower extremities, sensation of upper abdominal tightness, elevated C-reactive protein, and eosinophilia). The diagnosis was more difficult because symptoms, such as unintentional weight loss and early satiety, raised concern for a serious disease, prompting the interdisciplinary clinical team to appropriately order imaging (eg, CT chest/abdomen/pelvis, endoscopy, colonoscopy) to exclude internal pathology.
An autoimmune process was considered more likely after the patient developed a new dry mouth and dry eyes in the setting of continued unintentional weight loss and worsening of symptoms. The patient was referred to rheumatology, where an appropriate workup excluded localized scleroderma and SSc, narrowing the differential to EF. The patient’s membership in an integrated health care system accelerated health care delivery, and she had 1 rheumatology visit, 1 dermatology visit, 4 MRIs, and 1 en bloc fascial biopsy within a month of the suspected diagnosis. The MRI showed fascial edema and inflammation and supported the diagnosis of EF. Of note, the diagnosis of EF was made in the setting of en block fascial biopsy showing no definitive evidence of EF.

Treatment Pathway

The patient was started on systemic glucocorticoids, the first-line treatment for EF, at the recommended dose of 1 mg/kg/d. For this patient, the optimal dose was a 50 mg prednisone taper.2,3 Additionally, the patient was prescribed sulfamethoxazole/trimethoprim for pneumocystis pneumonia prophylaxis and alendronate as an antiresorptive therapy while on high-dose prednisone, a recommendation based on clinical evidence.

Outcomes

At the time of writing, 7 months after diagnosis, prednisone was being tapered, and the patient was clinically improved with no signs of disease relapse.

Key Learning Takeaways

EF can be challenging to diagnose due to its shared presentation with localized scleroderma and SSc. SSc must be excluded to make a diagnosis of EF.
Differentiating EF from localized scleroderma and SSc can be achieved through clinical, laboratory, and histopathological findings.
MRI of the affected areas can support the diagnosis of EF and may help guide the selection of the en bloc fascial biopsy site. En bloc fascial biopsy is the gold standard diagnostic tool for EF.

Footnote

Author Contributions
Cristo Armando Carrasco Mendoza, BS, contributed to manuscript preparation. Alexander Rolando Gomez-Lara, BA, contributed to manuscript preparation. Brian Matthew Kleker, MD, contributed to manuscript preparation. No assistance in manuscript preparation was provided outside of the 3 authors listed above.

References

1.
Ihn H. Eosinophilic fasciitis: From pathophysiology to treatment. Allergol Int. 2019;68(4):437–439.
2.
Mazilu D, Boltașiu Tătaru LA, Mardale D-A, et al. Eosinophilic fasciitis: Current and remaining challenges. Int J Mol Sci. 2023;24(3):1–9.
3.
Jinnin M, Yamamoto T, Asano Y, et al. Diagnostic criteria, severity classification and guidelines of eosinophilic fasciitis. J Dermatol. 2018;45(8):881–890.
4.
Tsoi KL, Custers M, Bij de Vaate L, Jacobs JWG. Eosinophilic fasciitis. BMJ Case Rep. 2012: bcr20126158.

Information & Authors

Information

Published In

cover image The Permanente Journal
The Permanente Journal
Preprint
Pages: 1 - 5
PubMed: 39895266

Keywords:

  1. eosinophilic fasciitis
  2. localized scleroderma
  3. morphea
  4. systemic sclerosis

Notes

This case report demonstrated a team-based approach to patient care by illustrating how a challenging condition can be diagnosed using an inter-disciplinary approach within an integrated health care system that facilitates the order and fulfillment of laboratory studies, imaging, procedures, and referrals.

Authors

Affiliations

Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, CA, USA
Alexander Rolando Gomez-Lara, BA, BS https://orcid.org/0009-0008-9919-412X
Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, CA, USA
Brian Matthew Kleker, MD
Department of Dermatology, La Mesa Medical Offices, Southern California Permanente Medical Group, La Mesa, CA, USA

Notes

Cristo Armando Carrasco Mendoza, BS cristo.a.carrascomendoza@kp.org

Conflicts of Interest

None declared

Funding

None declared

Consent

Informed consent was received by case patient.

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