A 2-year-old born out of consanguineous marriage, had a history of the collodian membrane. He had large, thick, plate-like brown scaling generalized distribution; no erythroderma and ectropion. Which disease is it?
Correct Answer: Lamellar ichthyosis
Description: Lamellar Ichthyosis(LI) Colloidion baby -the baby is covered by a thickened colloidion membrane. Scaling occurs over the whole body including creases and bends. Scale in LI - large, dark brown or grey and firmly adherent. Drooping of lower eyelids (ectropion), palmoplantar keratoderma & scarring alopecia seen in severe cases. ICHTHYOSIS VULGARIS X LINKED ICHTHYOSIS LAMELLAR ICHTHYOSIS AD XLR AR Def. of filaggrin Def. of steroid sulphatase enzyme Def. of transglutaminase-1 enzyme Extensors mainly involved Extensors and flexors involved Whole body involved-Colloidion membrane/ baby Netheon syndrome: Newborn have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid.
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