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Non‐bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome

A 21‐year‐old woman presented with non‐bullous congenital ichthyosiform erythroderma; she was born a collodion baby. Associated features were ocular albinism, anterior segment dysgenesis of both eyes and Noonan syndrome. X‐linked ichthyosis (steroid sulphatase deficiency) and X‐linked ocular albinism have been mapped to the Xp22.3 region and cases have been reported with both conditions due to a partial short‐arm deletion of the X chromosome. The ichthyosis and ocular albinism in the present case, however, are likely to be of the autosomal recessive type − a very rare association – and the combination with Noonan syndrome has not been reported previously.