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CASE REPORT
Year : 2019  |  Volume : 8  |  Issue : 3  |  Page : 1266-1268

Congenital heart disease in harlequin ichthyosis: Case series


1 Department of Cardiology, Ujala Hospital, Kashipur, Uttarakhand, India
2 Deptartment of Pediatrics, IMS, BHU, Varanasi, Uttar Pradesh, India
3 Deptartment of Pediatrics, Shree Krishna Hospital, Kashipur, Uttarakhand, India

Correspondence Address:
Dr. Bhupendra Verma
Department of Cardiology, Ujala Hospital, Kashipur - 244 713, U S Nagar, Uttarakhand
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jfmpc.jfmpc_61_19

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Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body. It is a lethal disease, but patients can rarely survive for several months or years with treatment. We present here seven cases of HI, where cardiac evaluation was done by echocardiography. To our knowledge, this is the first study to report associated cardiac abnormalities in such patients.


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