Anaesthesia recommendations for patients suffering from Lamellar ichthyosis

The ichthyoses comprise a group of keratinisation disorders characterised by generalised scaling of the skin. Lamellar ichthyosis (LI) is usually manifested at birth as a collodion baby with ectropion/eclabion. Collodion membrane means encased in a tight shiny covering. It is characterised afterwards by non-bullous scaling of the whole integument with variable erythroderma. LI is a major subtype of autosomal recessive congenital ichthyosis with an estimated prevalence of 1 : 200,000– 300,000. The most common cause of LI is inactivating mutations in the TGM1 gene, which encodes transglutaminase-1 (TGase1), a key enzyme that cross-links proteins in the cornified cell envelope in the dermis. Production of the cornified cell envelope is one of the essential events during terminal differentiation of epidermal keratinocytes and skin barrier formation. Although life expectancy is normal, those affected with LI have impaired growth because of a defective skin permeability barrier, which results in impaired vitamin-D production and increased loss of water and calories.