autosomal recessive congenital ichthyosis 4B
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.
MONDO:0011026
autosomal recessive congenital ichthyosis 4A
is_a
ARCI4B
exact
HI
exact
Harlequin Ichthyosis
exact
Harlequin fetus
related
Harlequin foetus
related
autosomal recessive congenital ichthyosis type 4B
exact
harlequin ichthyosis
exact
hi
exact
ichthyosis , congenital, autosomal recessive 4b (harlequin)
exact
ichthyosis congenita, Harlequin foetus type
related
ichthyosis congenita, Harlequin type
exact
ichthyosis fetalis, Harlequin type
exact
ichthyosis, congenital, autosomal recessive 4B
related
ichthyosis, congenital, autosomal recessive type 4B
exact