Twin Neonates with Harlequin Ichthyosis in a Rare Monochorionic Dizygotic Pregnancy: A Medical Enigma

Authors

  • Hamza Sajjad King Abdullah Teaching Hospital, Mansehra
  • Saba Ayoub King Abdullah Teaching Hospital, Mansehra
  • Muhammad Rehan King Abdullah Teaching Hospital, Mansehra
  • Muhammad Shais Khan Shahida Khailq Hospital Islamabad
  • Arshad Khan King Abdullah Teaching Hospital, Mansehra
  • Ahsan Raza Khan Quaid e Azam International Hospital Islamabad

DOI:

https://doi.org/10.35787/jimdc.v15i2.1551

Abstract

The condition Harlequin ichthyosis (HI) is a severe but rare form of congenital ichthyosis. It is due to mutation in the ABCA12 gene. Harlequin ichthyosis is an inherited, autosomal recessive disorder. Our case study reports the first-ever birth of twins affected by Harlequin ichthyosis to parents with a strong family history in Pakistan. Family history played a major role in our case, as there was a strong history of HI in the relatives. There are around 200 case reports published worldwide about HI, but to our knowledge, this is the first case ever reported of twin birth of Harlequin ichthyosis in Mansehra, Pakistan

Keywords: Autosomal recessive, Congenital, Harlequin ichthyosis, Mutation, Twin Pregnancy.

Downloads

Published

24-06-2026

Issue

Vol. 15 No. 2 (2026): April-June 2026

Section

Case Reports

License

Copyright (c) 2026 Journal of Islamabad Medical & Dental College

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Creative Commons License
This is an Open Access article distributed under the terms of the Creative Commons Attribution-Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.