Harlequin Ichthyosis the Most Severe Form of the Congenital Ichthyosis; A Case Report Study

Authors

  • Nasim Talebi-Azar
  • Mayam Rasouli
  • Babak Choobi Anzali
  • Rasoul Goli
  • Jaizeh Karimi Johani
  • Navid Faraji
  • Amireh Hassanpour
  • Aynaz Bagherzadi

DOI:

https://doi.org/10.37506/ijfmt.v15i4.16991

Keywords:

Harlequin ichthyosis, Gene, Mutation, Autosomal recessive, Case report, Iran

Abstract

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.

Author Biographies

Nasim Talebi-Azar

Assistant Professor, Psychiatrist, Urmia University of Medical Sciences, Urmia, Iran

Mayam Rasouli

Assistant Professor,Department of Emergency Medicine, Urmia University of Medical Sciences, Urmia, Iran

Babak Choobi Anzali

Assistant Professor,Department of Emergency Medicine, Urmia University of Medical Sciences, Urmia, Iran,

Rasoul Goli

MSc, Department ofMedical-Surgical Nursing, School of Nursing and Midwifery, Urmia University of Medical Sciences, Urmia, Iran

Jaizeh Karimi Johani

MSc, Department of Community Health Nursing, Tabriz University of Medical Sciences, Tabriz, Iran

Navid Faraji

MSc, Department of Community Health Nursing, Tabriz University of Medical Sciences, Tabriz, Iran

Amireh Hassanpour

MSc,Department of Critical Care Nursing, School of Nursing and Midwifery, Urmia University of Medical Sciences,Urmia, Iran

Aynaz Bagherzadi

MSc, Department ofMedical-Surgical Nursing, School of Nursing and Midwifery, Urmia University of Medical Sciences, Urmia, Iran

Published

2021-08-16

How to Cite

Nasim Talebi-Azar, Mayam Rasouli, Babak Choobi Anzali, Rasoul Goli, Jaizeh Karimi Johani, Navid Faraji, Amireh Hassanpour, & Aynaz Bagherzadi. (2021). Harlequin Ichthyosis the Most Severe Form of the Congenital Ichthyosis; A Case Report Study. Indian Journal of Forensic Medicine & Toxicology, 15(4), 1975-1978. https://doi.org/10.37506/ijfmt.v15i4.16991

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