Connective tissue nevus misdiagnosed as juvenile localized scleroderma

Area of Science:

• Dermatology
• Pediatric Pathology
• Medical Diagnostics

Background:

• Connective tissue nevi (CTN) are congenital hamartomas of dermal components.
• In children, CTN can clinically mimic juvenile localized scleroderma (JLS), an autoimmune condition requiring immunosuppressive therapy.

Purpose of the Study:

• To describe pediatric cases of CTN misdiagnosed as JLS.
• To identify distinguishing features between CTN and JLS in children.

Main Methods:

• Retrospective analysis of pediatric patients with suspected JLS over two decades.
• Collected and compared clinical, laboratory, histopathological, MRI, and thermography data.
• Focused on patients ultimately diagnosed with CTN.

Main Results:

• Seventeen patients (mean age 4.6 years) initially diagnosed with JLS.
• Lesions were flat, resembling morphea; predominantly on lower limbs (82.4%).
• No inflammatory markers or autoantibodies; biopsies confirmed CTN (non-familial collagenoma most common). Diagnostic delay averaged 4.8 years.

Conclusions:

• CTN can be misdiagnosed as JLS, leading to inappropriate immunosuppressive treatment.
• Key diagnostic indicators for CTN include non-inflammatory lesions, normal instrumental and laboratory findings, and accurate skin biopsy interpretation.