Synonyms: Autosomal congenital ichthyosis, Harlequin type | HI | Ichthyosis congenita, Harlequin type
A rare autosomal recessive congenital ichthyosis characterized at birth by the presence of large thick plate-like shell over the whole body associated with severe ectropion eclabium and flattened ears that later develops into a severe scaling erythroderma. Harlequin ichthyosis is the most severe disorder of this group.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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