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Related Experiment Videos

Harlequin fetus: a case report.

A Bonomi1, G Gomirato, P Capalbo

  • 1Divisione di Pediatria, Ospedale Martini, Torino, Italy.

Panminerva Medica
|April 1, 1990
PubMed
Summary

This case study highlights the effectiveness of etretinate in treating harlequin fetus, a rare congenital ichthyosis. Despite the infant

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Area of Science:

  • Dermatology
  • Genetics
  • Pediatrics

Background:

  • Harlequin fetus is a rare, severe form of congenital ichthyosis.
  • Limited treatment options exist for this condition.

Observation:

  • A female infant presented with total congenital ichthyosis and extremity necrosis.
  • The patient was treated with etretinate.

Findings:

  • Etretinate treatment led to significant cutaneous improvements, including reduced hyperkeratosis, ectropion, and eclabium.
  • Despite initial treatment success, the infant experienced sudden renal insufficiency and died at 16 days old.

Implications:

  • This case reinforces the therapeutic potential of etretinate for harlequin fetus.
  • Further research is warranted to explore long-term efficacy and safety of etretinate in congenital ichthyosis.