Harlequin Ichthyosis: a case report and literature review.
Abhigan Babu Shrestha1, Prince
Biswas2, Sajina Shrestha3, Romana
Riyaz4, Muhammad Hassnain Nawaz1,
Shumneva Shrestha5, Labiba Hossainy6
1 M Abdur Rahim Medical College, Dinajpur, Bangladesh.
2 Rajshahi Medical College, Rajshahi, Bangladesh.
3 KIST Medical College, Imadol, Patan, Nepal.
4 Shadan Institute of Medical Sciences and Research,
Hyderabad, Telangana, India.
5MaharajgunjMedical Campus, Institute of Medicine,
Tribhuvan University, Kathmandu, Nepal.
6 Department of Pediatrics, Shaheed Ziaur Rahman
Medical College Hospital, Bogra, Bangladesh.
Corresponding author: ABS
Email: abigan17@gmail.com
Author contribution: ABS: conceptualization; RR, MHN, SS: writing
manuscript; ABS and SS: manuscript editing and writing; PB: patient
information collection; LH: supervisor. All authors reviewed the article
and agreed on submission.
Consent statement: Informed written consent has been taken from the
patient and will be provided on request.
Acknowledgement: No authors has been funded for this manuscript.
Abstract:
Harlequin Ichthyosis is a rare autosomal recessive disorder occurring in
1: 3,000,000 birth characterized by thick keratin skin with scaly
appearance. Preterm deliveries, early marriage and consanguinity of
marriage are some risk factors. Antenatal checkup of DNA for ABCA12
mutation helps in diagnosis but USG in places where not available.
Keywords: harlequin ichthyosis, ichthyosis congenital, genetic disorder,
ABCA12 mutation.