Harlequin ichthyosis

Disease Export to PDF
Name:
Harlequin ichthyosis
Description:
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.
ORPHAcode:
457
Synonyms:
Autosomal congenital ichthyosis, Harlequin type
HI
Ichthyosis congenita, Harlequin type
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14