Abstract

Collodion is a rare(1:200 000) congenital condition linked to gene mutation mostly and sometimes can be autosomal recessive. Babies appear to have an extra layer tight shiny skin (sausage skin appearance) predisposed to abnormal desquamation and dehydration. Clinical presentation and severity varies, ranging from harlequin ichthyosis, the most severe and fatal form, to less severe ones.

Management requires multidisciplinary expertise of dermatologist, paediatrician, ophthalmologist, geneticist, physiotherapist. We present a case of collodion baby born at 37 weeks gestation, diagnosed at birth and managed successfully by ELHT multidisciplinary team.

This case is interesting as we learnt since first baby that consanguinity confers higher risk status and six genes have been identified by Geneticists recently in association with collodion which makes pre natal diagnosis, and screening of other family members potentially possible now. Mother is currently in second pregnancy with us and referred for genetic counselling but declined prenatal testing.