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Cutaneous Leishmaniasis in the Dorsal Skin of Hamsters: a Useful Model for the Screening of Antileishmanial Drugs

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Published on: April 21, 2012

Harlequin ichthyosis: Case report.

Shahrbanoo Salehin¹, Ahmad Azizimoghadam¹, Abdolghani Abdollahimohammad²

¹Department of Midwifery, Zabol Medical Sciences University, Zabol, Iran.

Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences

|February 13, 2014

Summary

Harlequin ichthyosis (HI) is a severe congenital skin disorder affecting 1 in 300,000 newborns. This case report highlights the critical need for genetic counseling and ABCA12 gene screening in suspected HI cases.

Keywords:

ABCA12 gene mutation autosomal recessive skin abnormalities

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Area of Science:

Dermatology
Genetics
Pediatrics

Background:

Harlequin ichthyosis (HI) is an extremely rare and severe autosomal recessive congenital ichthyosis.
It affects approximately 1 in 300,000 live births and can be lethal at birth, with affected infants often being premature.

Observation:

This report details a new case of Harlequin ichthyosis.
The neonate presented with the characteristic severe, hyperkeratinized, "alligator-like" skin.
The clinical presentation underscores the severity and typical features of this rare condition.

Findings:

Harlequin ichthyosis is strongly associated with mutations in the ABCA12 gene.
This genetic link is crucial for understanding the pathophysiology of the disorder.

Implications:

Early diagnosis and genetic counseling are vital for families with suspected HI.
Mutation screening of the ABCA12 gene should be considered for accurate diagnosis and family planning.
This case contributes to the limited body of knowledge on Harlequin ichthyosis, aiding future research and clinical management.