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Dermatology5 papers

Harlequin syndrome

Last edited: 4/15/2026

Overview

Harlequin syndrome, also known as harlequin fetus, is a rare congenital disorder characterized by thickening of the skin, particularly over the trunk and extremities, leading to a "mask-like" appearance and severe skin fragility 1.

Diagnosis

  • Clinical presentation includes thickened, taut skin with a mask-like facial appearance and limb contractures 1.
  • Biopsy may show hyperkeratosis and acanthosis, but is not routinely required for diagnosis 1.
  • Genetic testing can identify underlying mutations, though not always definitive 1.

    • Management

  • First-line treatments: Intensive supportive care including emollient therapy to manage dryness and prevent skin breakdown 1.
  • Adjunctive treatments: Oral etretinate has been used successfully in prolonged survival cases 1.

    • Special Populations

  • Pregnancy: Specific management strategies for pregnant women with harlequin syndrome are not detailed in the provided abstracts 1.
  • Pediatrics: Intensive supportive measures are crucial in pediatric cases to prevent complications and promote comfort 1.
  • Elderly: No specific considerations mentioned in the abstracts 1.
  • Comorbidities: Management often focuses on supportive care with additional attention to comorbid conditions as they arise 1.

    • Key Recommendations

  • Implement intensive supportive care including frequent emollient application to maintain skin integrity (Evidence: Expert opinion) 1.
  • Consider adjunctive therapy with oral etretinate for prolonged survival and symptom management in severe cases (Evidence: Weak) 1.
  • Regular monitoring and multidisciplinary care are essential to address complications and improve quality of life (Evidence: Expert opinion) 1.

    • References

    1 Ward PS, Jones RD. Successful treatment of a harlequin fetus. Archives of disease in childhood 1989. link

    Original source

    1. [1]
      Successful treatment of a harlequin fetus. — Ward PS, Jones RD Archives of disease in childhood (1989)
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