Also Known As
ARCI4BHIHarlequin Ichthyosisautosomal recessive congenital ichthyosis type 4Bharlequin ichthyosisharlequin type ichthyosis congenitaharlequin type ichthyosis fetalishiichthyosis , congenital, autosomal recessive 4b (harlequin)ichthyosis congenita, Harlequin typeichthyosis fetalis, Harlequin typeichthyosis, congenital, autosomal recessive type 4B'Harlequin fetus'Harlequin fetusHarlequin foetusichthyosis congenita, Harlequin fetus typeichthyosis congenita, Harlequin foetus typeichthyosis, congenital, autosomal recessive 4B
Definition
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.