Type of Article:  Case Report

Volume 10; Issue 1 (March 2022)

Page No.: 8226-8229

DOI: https://dx.doi.org/10.16965/ijar.2021.191

Harlequin Ichthyosis: Folklore of Demon

Maman You Espérance BROALET *1, Dié Doweh Renaud 2, Djibril Ouattara 3, Jean-Baptiste Kéké 4, Mohamed Koné 5.

*1 Department of Anatomy, Mandya Institute of Medical Sciences, Mandya, Karnataka, India.                             https://orcid.org/ 0000-0001-5916-7161

2 Department of Anatomy, Mandya Institute of Medical Sciences, Mandya, Karnataka, India.

Corresponding author: Dr. Sunil O, Department of Anatomy, Mandya Institute of Medical Sciences, Mandya, Karnataka, India. E-Mail: sunilobulesh13@gmail.com


Background: Harlequin ichthyosis (HI) is a severe and rare autosomal recessive congenital ichthyosis, characterized by severe hyperkeratosis, extensive fissuring and massive, diamond-shaped scales which limit the child’s movements. The term harlequin comes from the baby’s facial expression and diamond-shaped pattern of the scales like the 17th century entertainers, harlequins. The underlying genetic abnormality has been identified as a mutation in the lipid-transporter gene ABCA 12 on chromosome 2q35.

Aim and objectives: To provide a comprehensive knowledge of severe forms of congenital ichthyosis, the harlequin ichthyosis and abolish the superstitious notion regarding the appearance of the neonate.

Materials and Methods: The present report is case of premature girl baby delivered at MIMS, Mandya. The neonate presented plaques of rigid fixed skin, separated by deep red fissures, facial features were obliterated by thickened skin, undeveloped nose and pinna, severe ectropion and eclabium. Intensive care was given and survival was prolonged by systemic retinoids. The neonate succumbed to respiratory failure few days later.

Results and conclusion: The present study gives a comprehensive knowledge of harlequin ichthyosis and provides emphasis on sensitization of the disease to prevent any misconception or superstition. Also lays emphasis on Genetic counseling of the couple to prevent further occurrences.

Key words: Eclabium, Ectropion, Harlequin ichthyosis.


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Cite this article: Sunil O, Trinesh Gowda M S. Harlequin Ichthyosis: Folklore of Demon. Int J Anat Res 2022;10(1):8226-8229. DOI: 10.16965/ijar.2021.191