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Harlequin fetus.

Naveed Akhter Malik1, Abdul Qayyum Ghauri

  • 1Department of Skin, Combined Military Hospital, Jhelum Cantt. aqghauri@hotmail.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|July 1, 2004
PubMed
Summary

A rare harlequin fetus case is presented, characterized by severe skin abnormalities, ectropion, eclabium, and limb complications. Despite supportive care, the infant did not survive beyond the fourth day of life.

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Area of Science:

  • Genetics
  • Dermatology
  • Neonatology

Background:

  • Harlequin ichthyosis is a severe congenital skin disorder.
  • Consanguinity in parents increases the risk of autosomal recessive genetic disorders.

Observation:

  • The neonate presented with classic harlequin fetus features: thick, armor-like scales with fissures.
  • Additional manifestations included ectropion, eclabium, atrophic ears, and swollen extremities with gangrene.

Findings:

  • The case highlights the extreme phenotype of harlequin ichthyosis.
  • The infant's condition was incompatible with prolonged survival.

Implications:

  • This case underscores the importance of genetic counseling for consanguineous couples.
  • Further research into the genetic basis and potential treatments for harlequin ichthyosis is warranted.