Harlequin Ichthyosis the Most Severe Form of the Congenital Ichthyosis; A Case Report Study
Keywords:Harlequin ichthyosis, Gene, Mutation, Autosomal recessive, Case report, Iran
Harlequin ichthyosis (HI) is a rare and the most severe form of the congenital ichthyosis with an autosomal
recessive inheritance. At birth, the HI phenotype is striking with thick hyperkeratotic plate-like scales
with deep dermal fissures, severe ectropion, among other findings. Although HI infants have historically
succumbed in the perinatal period related to their profound epidermal compromise, the prognosis of HI
infants has vastly improved over the past 20 years. The disease might be lethal at birth and the affected babies
are often premature. The present study reports a new case with HI and adds to the collective knowledge of
this rare skin disorder.
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