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Abstract
Harlequin Ichthyosis: Prenatal Diagnosis of a
Rare Genetic Dermatosis
Ramanidevi Thirunavukkarasu
Harlequin foetus otherwise called as ichthyosis is a rare disorder which affects the
foetus and transmitted through autosomal recessive inheritance. Incidence of the
disease is nearly 1 in 2,00,000 to 3,00,000 live births. The affected foetus usually
dies at birth and most often they are born pre-term. Harlequin Ichthyosis (HI) is
characterized by severe keratinisation and alligator-like horned skin disorder. HI
is associated with mutation in the ABCA12 gene. It recurs and family history and
plays a major role. Therefore, genetic counselling and screening for mutation of
this gene should be considered. Prenatal testing with amniocentesis and USG in
late second trimester will help to diagnose the condition. ART and PGT will help to
diagnose this genetic disorder.
