Congenital heart disease in harlequin ichthyosis: Case series.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 31041289.
- Also identified by DOI 10.4103/jfmpc.jfmpc_61_19 and PMC identifier 6482787.
- Licence recorded as CC BY-NC-SA.
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Abstract
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.