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For Juvenile Scleroderma, Look Beyond the Skin

A group of European pediatric rheumatology experts have formulated a series of consensus-based recommendations for the diagnosis and treatment of juvenile localized scleroderma, a rare disease that can lead to significant morbidity in children.

The broad category of juvenile localized scleroderma consists of five subtypes:

  • linear scleroderma
  • circumscribed morphea
  • pansclerotic morphea
  • generalized morphea
  • mixed subtype

The overall incidence has been estimated at 3.4 cases per million per year, with the most common subtype being linear scleroderma. Girls are affected more often than boys, and the typical age of onset is 7.3 years.

Writing online in Annals of the Rheumatic Diseases, the expert group, led by Francesco Zulian, MD, of the University of Padova in Italy, first offered an overarching principle: “Given the rarity of the disease … patients with suspected juvenile localized scleroderma should be referred to a specialized pediatric rheumatology center for clinical assessment and treatment.”

A suitable tool for disease assessment, the authors said, is the Localized Scleroderma Skin Severity Index, which can measure the activity and severity of the skin lesions. This tool quantifies the body surface area involved, the degree of erythema and skin thickness, and the appearance of new lesions and extension of older ones in 18 specific anatomic sites.

A second assessment tool is the Localized Scleroderma Skin Damage Index, which evaluates skin atrophy, subcutaneous tissue loss, and changes in pigmentation.

Additional diagnostic information is sometimes obtained through infrared thermography, which can help in detection of active skin lesions and high-frequency ultrasound, which can reveal fibrosis and deterioration of subcutaneous fat, Zulian and co-authors noted.

But the diagnostic assessment should be global, they said, focusing not only on the skin lesions but also on extracutaneous manifestations. Up to 19% of patients, most often those with the linear subtype, can have articular involvement such as arthritis or contractures, so a comprehensive joint examination is needed.

The affected joints don’t necessarily correlate with the sites of cutaneous lesions, Zulian and colleagues said, so magnetic resonance imaging (MRI) can be helpful in the evaluation of musculoskeletal involvement. Patients with articular disease manifestations sometimes are also positive for rheumatoid factor or have elevations of the erythrocyte sedimentation rate.

In addition, MRI is useful for assessment of potential central nervous system disease, which can manifest as seizures, behavioral changes, and learning disabilities, with white matter changes, vasculitis, and calcifications. MRI is mandatory for any patient with lesions of the face or scalp, who also should have an ophthalmologic screening.

U.S. specialty centers typically follow similar approaches to these European recommendations. “Children with suspected localized scleroderma are carefully assessed by a pediatric rheumatologist, and may be referred for imaging or to other types of specialists based on the location and severity of their lesion,” said Sarah Taber, MD, a pediatric rheumatologist at the Hospital for Special Surgery in New York City.

With regard to treatment, the European expert group explained that “management decisions should be based on the particular subtype of disease, and on the degree of activity.”

For patients with progressive linear disease or generalized or pansclerotic morphea, methotrexate has shown efficacy and is often given with corticosteroids. Methotrexate is usually given as weekly doses of 15 mg/m2, generally for at least 1 year, and then tapered.

The usual steroid regimen is oral prednisone in dosages of 1-2 mg/kg/day for 2 to 3 months followed by a gradual taper, or pulsed intravenous methylprednisolone in doses of 30 mg/kg using various administration schedules.

Both steroids and methotrexate are safe and well tolerated in these patients, the expert group agreed.

In these disease subtypes, if methotrexate is not effective or tolerated, mycophenolate mofetil (CellCept) can be given in doses of 500 to 1,000 mg/m2, although supporting data are sparse. One small retrospective study of refractory juvenile localized scleroderma found mycophenolate to be safe and effective, usually when given in combination with methotrexate.

Taber agreed with the European treatment recommendations: “The mainstay of treatment for active localized scleroderma is methotrexate with or without steroids. Mycophenolate mofetil may be used for patients who have refractory disease or are unable to tolerate methotrexate,” she told MedPage Today.

Other approaches to treatment include topical therapies such as imiquimod or phototherapy for circumscribed morphea, although phototherapy is limited by the need for lengthy regimens and high cumulative radiation exposure.

“Recent evidence highlights the importance of treating skin disease aggressively as it is associated with high morbidity both physically and psychologically. Long-term follow-up studies are warranted to clarify complication risks and predictors of poor outcome,” Zulian’s group concluded.

This project was funded by the European Agency for Health and Consumers.

The authors reported no financial conflicts.


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