Publication:

Jaundice in a baby with self-improving collodion ichthyosis and ALOX12B mutation- a challenging scenario

Autosomal recessive congenital ichthyoses are a heterogeneous group of rare cornification diseases. Genetic mutations are responsible for the condition, with some causing a relatively milder phenotype such as ‘self-improving collodion ichthyosis’. In most cases, affected babies are born with a thick parchment like membrane covering their body. These babies may have a problematic postnatal course, and are prone to complications. The authors present the report of a newborn collodion baby afflicted with ALOX12B mutation, who had a challenging post natal course. Difficulties in feeding, temperature control, hydration and electrolyte balance were encountered and required precise monitoring and formulation of an effective treatment strategy. Treatment of jaundice in the baby also presented a unique challenge, which was successfully managed.