Harlequin ichthyosis

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). 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.

Epidermal hyperkeratosis



Total: 1

                      


(per page)
PMID (PMCID)
25611001
MIXED_SAMPLE Infant, Newborn
Obstetric anesthesia for harlequin ichthyosis: a unique challenge.
Rosenbaum T, Rosenbaum ER, Lienhart KL, Choate AI.
A A Case Rep. 2015;4(2):19-21.
Harlequin ichthyosis (HI) is a rare disorder of defective lipid transport resulting in severe epidermal hyperkeratosis producing large plate-like scales.