{"id":2608,"date":"2022-03-04T14:51:31","date_gmt":"2022-03-04T14:51:31","guid":{"rendered":"https:\/\/www.ijmhr.org\/IntJAnatRes\/?page_id=2608"},"modified":"2022-03-04T14:51:31","modified_gmt":"2022-03-04T14:51:31","slug":"ijar-2021-191","status":"publish","type":"page","link":"https:\/\/www.ijmhr.org\/IntJAnatRes\/ijar-2021-191","title":{"rendered":"IJAR.2021.191"},"content":{"rendered":"
<\/i> DOWNLOAD PDF<\/span><\/a><\/div><\/div><\/div>
<\/i> Table of Contents<\/span><\/a><\/div><\/div><\/div><\/div>\n

Type of Article:<\/strong> \u00a0Case Report<\/h3>\n

Volume 10; Issue 1 (March 2022)<\/strong><\/h3>\n

Page No.:<\/strong> 8226-8229<\/h3>\n

DOI:\u00a0<\/strong>https:\/\/dx.doi.org\/10.16965\/ijar.2021.191<\/h3>\n

Harlequin Ichthyosis: Folklore of Demon<\/h3>\n

Maman You Esp\u00e9rance BROALET *1<\/sup>, Di\u00e9 Doweh Renaud 2<\/sup>, Djibril Ouattara 3<\/sup>, Jean-Baptiste K\u00e9k\u00e9 4<\/sup>, Mohamed Kon\u00e9 5<\/sup>.<\/strong><\/p>\n

*1<\/sup> Department of Anatomy, Mandya Institute of Medical Sciences, Mandya, Karnataka, India.\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0https:\/\/orcid.org\/ 0000-0001-5916-7161<\/p>\n

2<\/sup> Department of Anatomy, Mandya Institute of Medical Sciences, Mandya, Karnataka, India.<\/p>\n

Corresponding author<\/strong>: Dr. Sunil O, Department of Anatomy, Mandya Institute of Medical Sciences, Mandya, Karnataka, India. E-Mail: <\/strong>sunilobulesh13@gmail.com <\/span><\/p>\n

ABSTRACT<\/h3>\n

Background: <\/strong>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\u2019s movements. The term harlequin comes from the baby\u2019s 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.<\/p>\n

Aim and objectives: <\/strong>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.<\/p>\n

Materials and Methods: <\/strong>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.<\/p>\n

Results and conclusion: <\/strong>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.<\/p>\n

Key words<\/strong>: Eclabium, Ectropion, Harlequin ichthyosis.<\/p>\n

REFERENCES<\/strong><\/p>\n

[1]. Rathore S, David LS, Beck MM, Bindra MS, Arunachal G. Harlequin ichthyosis: Prenatal diagnosis of a rare yet severe genetic dermatosis. J Clin Diagn Res. 2015;9(11):QD04-QD06.
[2]. National Organization for Rare Disorders. Ichthyosis, harlequin type. https:\/\/rarediseases.org\/rare-diseases\/ichthyosis-harlequin-type\/
[3]. Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, & Glick SA. Improved management of harlequin ichthyosis with advances in neonatal intensive care. Am Aced Pediatrics. 2017;139(1).
[4]. Sundaramoorthy Srinivasan. Expecting the most unexpected \u2013 a harlequin baby! A case report and literature analysis. Our Derm online. 2012.
[5]. Krug M, Oji V, Traupe H, Berneburg M. Ichthyoses-Part 1: Differential diagnosis of vulgar ichthyoses and therapeutic options. J. Dtsch. Dermatol. Ges. 2009; 7: 511\u2013519.
[6]. Krug M, Oji V, Traupe H, Berneburg M. Ichthyoses-Part 2: Congenital ichthyoses. J. Dtsch. Dermatol. Ges. 2009; 7: 577\u2013588.
[7]. Merriam-Webster: History of Harlequin.
[8]. Available from: https:\/\/www.merriam-webster.com\/dictionary\/harlequin [Accessed 15th Nov 2021].
[9]. U.S. National Library of Medicine. ABCA12 gene. https:\/\/ghr.nlm.nih.gov\/gene\/ABCA12#conditions. Reviewed July 2017.
[10]. Rajpopat, S et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011;147(6):681-86.
[11]. Orphanet. Congenital non-bullous ichthyosiform erythyroderma.
[12]. https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=en&Expert=79394. Updated Jan 2012.
[13]. Paller, A et al. An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. J Allergy Clin Immunol. 2017;139(1):152-65. <\/p>\n

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\n \t Cite this article:<\/strong><\/span> Sunil O, Trinesh Gowda M S. Harlequin Ichthyosis: Folklore of Demon. Int J Anat Res 2022;10(1):8226-8229. DOI:\u00a0<\/strong>10.16965\/ijar.2021.191\u00a0 \n <\/div>\t\n\t\t\n\n\n

<\/p>\n","protected":false},"excerpt":{"rendered":"

Type of Article: \u00a0Case Report Volume 10; Issue 1 (March 2022) Page No.: 8226-8229 DOI:\u00a0https:\/\/dx.doi.org\/10.16965\/ijar.2021.191 Harlequin Ichthyosis: Folklore of Demon Maman You Esp\u00e9rance BROALET *1, Di\u00e9 Doweh Renaud 2, Djibril Ouattara 3, Jean-Baptiste K\u00e9k\u00e9 4, Mohamed Kon\u00e9 5. *1 Department of Anatomy, Mandya Institute of Medical Sciences, Mandya, Karnataka, India.\u00a0 \u00a0 \u00a0 \u00a0 \u00a0 \u00a0
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