Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Disease Synonyms HI Rybia łuska płodowa, typu harlekin Rybia łuska wrodzona, typu harlekin Ichthyosis congenita, Harlequin type Autosomal congenital ichthyosis, Harlequin type ORPHA code 457 OMIM code 242500 ICD10 code Q80.4 ICD11 code EC20.02 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl