Harlequin Ichthyosis - A Case Report

Ir Med J. 2017 Aug 8;110(7):606.


Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Female
  • Humans
  • Ichthyosis, Lamellar* / complications
  • Ichthyosis, Lamellar* / drug therapy
  • Ichthyosis, Lamellar* / genetics
  • Ichthyosis, Lamellar* / mortality
  • Infant
  • Male
  • Mutation
  • Retinoids / therapeutic use
  • Sepsis / complications
  • Survival Rate


  • ABCA12 protein, human
  • ATP-Binding Cassette Transporters
  • Retinoids