title: Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome.
abstract: 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.
authors.affiliation: Frimley Park Hospital, Surrey and St George's Hospital, London, UK.
authors.forename: V
authors.initials: V
authors.lastname: Hill
authors.forename: W
authors.initials: W
authors.lastname: Griffiths
authors.forename: M
authors.initials: M
authors.lastname: Kerr-Muir
authors.forename: S
authors.initials: S
authors.lastname: Hardman-Lea
mesh_terms: D000328:Adult; D016117:Albinism, Ocular / Q000150:complications*; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000150:complications*; D009634:Noonan Syndrome / Q000150:complications*