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Related Experiment Video

Updated: Aug 17, 2025

Isolation of Neonatal Extrahepatic Cholangiocytes

Isolation of Neonatal Extrahepatic Cholangiocytes

Published on: June 5, 2014

Harlequin ichthyosis newborn: A case report.

Maryam Nikbina¹, Masoumeh Sayahi¹

¹Department of Midwifery, Shoushtar Faculty of Medical Sciences, Shoushtar, Iran.

SAGE Open Medical Case Reports

|December 15, 2022

Summary

Harlequin ichthyosis, a severe genetic skin disorder, is caused by mutations in the adenosine triphosphate binding cassette A 12 gene. This case highlights the importance of genetic counseling and prenatal diagnosis for affected families.

Keywords:

Dermatopathology case report harlequin ichthyosis healthcare delivery

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Area of Science:

Medical Genetics
Dermatology
Prenatal Diagnosis

Background:

Harlequin ichthyosis is a rare, severe form of autosomal recessive congenital ichthyoses.
It results from mutations in the lipid transporter adenosine triphosphate binding cassette A 12 (ABCA12) gene.
This disorder affects fetal development, leading to severe skin abnormalities.

Observation:

A case of harlequin ichthyosis occurred in a male infant with no family history of the disorder.
Prenatal sonography revealed no abnormalities during the pregnancy.
The infant was born to a 24-year-old mother in Iran and tragically died on the fifth day of life.

Findings:

The study highlights a sporadic case of harlequin ichthyosis.
Confirms the association between harlequin ichthyosis and ABCA12 gene mutations.
Underscores the limitations of prenatal sonography in detecting all cases.

Implications:

Genetic screening and counseling are recommended for parents at risk.
Prenatal diagnosis, primarily through sonographic techniques, is vital for managing harlequin ichthyosis.
Early identification can inform reproductive decisions and improve perinatal care.