DefinePK

Abstract

Harlequin ichthyosis is a severe and very rare erythrodermic ichthyosis listed as Disorder of Cornification DOC -7 [1, 2]. It heralds clinically as distinct monstrous appearance of baby at birth. Defective keratin expression and lipid deposition has been observed histologically [3, 4]. Skin pattern and lethality incites the label of harlequin i.e. Venomous snake from genus Elaps [5], however survival is now possible [6, 7]. Many cases are sporadic with apparent autosomal recessive inheritance, others occur in consanguineous families. More than 100 cases have been reported in literature [8].