Harlequin ichthyosis
Definition:
Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborns with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion, and impaired contraction of ears and limbs. HI is associated with truncations/deletions in ABCA12, an ATP-binding cassette (ABC) transporters with lipid transporter activity in keratinocytes.
References:
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[1]. Masashi Akiyama, et al. An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol. 2008 May;17(5):373-82. [Content Brief]
[2]. Masashi Akiyama, et al. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci. 2006 May;42(2):83-9. [Content Brief]
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