Open AccessCongenital heart disease in harlequin ichthyosis: Case series
Author(s) -
Bhupendra Verma,
Abhishek Abhinay,
Anand Mohan,
Abha Singh
Publication year - 2019
Publication title -
journal of family medicine and primary care
Language(s) - Uncategorized
Resource type - Journals
eISSN - 2278-7135
pISSN - 2249-4863
DOI - 10.4103/jfmpc.jfmpc_61_19
Subject(s) - medicine , ichthyosis , congenital ichthyosis , disease , dermatology , heart disease , pediatrics , pathology
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.