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.
Hill
V
V
Frimley Park Hospital, Surrey and St George's Hospital, London, UK.
Griffiths
W
W
Kerr-Muir
M
M
Hardman-Lea
S
S
D000328:Adult; D016117:Albinism, Ocular / Q000150:complications*; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000150:complications*; D009634:Noonan Syndrome / Q000150:complications*