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Autosomal recessive congenital ichthyosis 4B

MONDO:0009443

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.

Also known as: ARCI4B, HI, Harlequin Ichthyosis, autosomal recessive congenital ichthyosis type 4B, harlequin ichthyosis, hi, ichthyosis , congenital, autosomal recessive 4b (harlequin), ichthyosis congenita, Harlequin type

19 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Eye disorder (97) Human disease (14) Ichthyosis (11) Hereditary skin disorder (5) Inherited ichthyosis (5) Lamellar ichthyosis (4) Disorder of orbital region (3)
Trials to join now! 11 Not yet recruiting 1 Not yet finished but already full! 3 Completed 2 Terminated 2
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