<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Harlequin ichthyosis (HI) is a severe form of congenital ichthyosis with autosomal recessive inheritance. Incidence of harlequin ichthyosis is 1 in 3,00,000 live births. We report a case of HI associated with bilateral choanal atresia and atrial septal defects, which is a rare association in this skin disorder. A-month-old preterm male baby born out of consanguineous marriage presented with features of armour-like scales and erythema all over body, ectropion, eclabium and fissures over flexures. The patient was born with a colloidion membrane at birth. The baby was operated for bilateral choanal atresia soon after birth because he developed cyanosis upon breast feeding which improved on crying. Upon flexible nasal endoscopy, diagnosis of membranous type of choanal atresia was confirmed by ENT (ear, nose, throat) surgeon. Heart auscultation revealed a murmur in our patient. Electrocardiogram and 2D Echocardiography was reported as atrial septal defect (4.5 mm OsASD). The patient was started on acitretin (1 mg/kg/day) and emollients after complete evaluation and is currently on regular follow up. Harlequin ichthyosis is linked to mutation of ABCA12 gene. It is often associated with eclabium, ectropion, hypoplastic nose, ears and fingers. Congenital heart diseases are rarely reported with HI in literature. This makes it mandatory to screen HI patients for internal defects.</p></abstract>

Harlequin ichthyosis (HI) is a severe form of congenital ichthyosis with autosomal recessive inheritance. Incidence of harlequin ichthyosis is 1 in 3,00,000 live births. We report a case of HI associated with bilateral choanal atresia and atrial septal defects, which is a rare association in this skin disorder. A-month-old preterm male baby born out of consanguineous marriage presented with features of armour-like scales and erythema all over body, ectropion, eclabium and fissures over flexures. The patient was born with a colloidion membrane at birth. The baby was operated for bilateral choanal atresia soon after birth because he developed cyanosis upon breast feeding which improved on crying. Upon flexible nasal endoscopy, diagnosis of membranous type of choanal atresia was confirmed by ENT (ear, nose, throat) surgeon. Heart auscultation revealed a murmur in our patient. Electrocardiogram and 2D Echocardiography was reported as atrial septal defect (4.5 mm OsASD). The patient was started on acitretin (1 mg/kg/day) and emollients after complete evaluation and is currently on regular follow up. Harlequin ichthyosis is linked to mutation of ABCA12 gene. It is often associated with eclabium, ectropion, hypoplastic nose, ears and fingers. Congenital heart diseases are rarely reported with HI in literature. This makes it mandatory to screen HI patients for internal defects.

Harlequin Ichthyosis (HI) Associated with Atrial Septal Defect (ASD) and Choanal Atresia

Department of Dermatology, B. J. Government Medical College and Sassoon General Hospital

Serbian Journal of Dermatology and Venereology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Harlequin ichthyosis (HI) is a severe form of congenital ichthyosis with autosomal recessive inheritance. Incidence of harlequin ichthyosis is 1 in 3,00,000...

Harlequin Ichthyosis (HI) Associated with Atrial Septal Defect (ASD) and Choanal Atresia

Published Online: Mar 18, 2021

Page range: 97 - 99

Received: Apr 16, 2020

Accepted: May 26, 2020

DOI: https://doi.org/10.2478/sjdv-2020-0015

Keywords
Ichthyosis, Lamellar, Chonal Atresia, Heart Septal Defects, Atrial, Infant, Premature, Consanguinity, Skin Abnormalities, Comorbidity

© 2020 Nitika S. Deshmukh et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Harlequin Ichthyosis (HI) Associated with Atrial Septal Defect (ASD) and Choanal Atresia

Published Online: Mar 18, 2021

Page range: 97 - 99

Received: Apr 16, 2020

Accepted: May 26, 2020

DOI: https://doi.org/10.2478/sjdv-2020-0015

KeywordsIchthyosis, Lamellar, Chonal Atresia, Heart Septal Defects, Atrial, Infant, Premature, Consanguinity, Skin Abnormalities, Comorbidity

© 2020 Nitika S. Deshmukh et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Keywords
Ichthyosis, Lamellar, Chonal Atresia, Heart Septal Defects, Atrial, Infant, Premature, Consanguinity, Skin Abnormalities, Comorbidity