[A case of systemic scleroderma complicating pulmonary hypertension]

Area of Science:

• Pediatric Rheumatology
• Dermatology
• Cardiology

Background:

• Systemic scleroderma is a rare autoimmune disease characterized by skin thickening and potential organ involvement.
• Pulmonary hypertension is a serious complication that can significantly impact prognosis in pediatric scleroderma.

Observation:

• A 7-year-old girl presented with progressive skin pigmentation, sclerosis, dyspnea on exertion, and Raynaud's phenomenon.
• Clinical findings included mask-like facies, joint contractures, fingertip ulcers, and echocardiographic evidence of pulmonary hypertension.
• Laboratory tests revealed positive antinuclear antibodies.

Findings:

• Combined steroid and cyclophosphamide pulse therapy led to significant improvement in dermal sclerosis and joint mobility.
• Pulmonary hypertension initially worsened but improved with prostaglandin therapy, oxygen, and anticoagulation.
• Long-term oral prednisolone and mizoribine maintained remission of both skin and pulmonary manifestations.

Implications:

• Early and aggressive multimodal treatment can effectively manage severe pediatric systemic scleroderma with pulmonary hypertension.
• This case highlights the importance of early diagnosis and intervention for improved outcomes in pediatric autoimmune diseases.
• Combination therapy demonstrates potential for achieving long-term remission and preventing disease progression.