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: V Hill, W Griffiths, M Kerr-Muir, S Hardman-Lea
• Journal: Clinical and experimental dermatology (Clin Exp Dermatol) Vol. 25 Issue 8 Pg. 611-4 (Nov 2000) ISSN: 0307-6938 [Print] England
• PMID: 11167973 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Albinism, Ocular (complications)
• Female
• Humans
• Ichthyosiform Erythroderma, Congenital (complications)
• Noonan Syndrome (complications)