Harlequin baby treated with etretinate

Area of Science:

• Dermatology
• Genetics
• Pediatrics

Background:

• Harlequin fetus syndrome is a severe, rare congenital skin disorder.
• It is characterized by thick, plate-like scales and fissured skin.
• Infants typically have a poor prognosis and high mortality rate.

Observation:

• A neonate diagnosed with harlequin fetus syndrome exhibited unexpected spontaneous improvement within the first six weeks of life.
• This early improvement suggested potential for better outcomes than typically observed.

Findings:

• Institution of etretinate therapy at six weeks of age led to significant further resolution of the harlequin fetus symptoms.
• The child demonstrated sustained improvement and is currently over two years old, indicating long-term benefits of treatment.

Implications:

• This case highlights the potential for survival and significant improvement in harlequin fetus syndrome.
• Early intervention with systemic retinoids like etretinate may be a viable therapeutic strategy.
• Further research is warranted to explore optimal treatment protocols and long-term management for this rare condition.