Ichthyosis congenita Typ II

The congenital autosomal recessive ichthyosis (also known as lamellar ichthyosis) can be classified in 4 etiologically heterogeneous types. Type II shows the typical accumulations of cholesterol clefts in the horny layer caused by strongly diminished keratinocyte transglutaminase activities. Clinical features are pronounced scaling (of the head, in particular) with persistent ectropion. Symptomatic treatment consists of measures to aid desquamation. Systemically, etretinate or its main metabolite, etretin can be used. The dose range depends on the individual case taking into account improvements and the severity of side effects. We report on a severe course of ichthyosis congenita type II, seen in a 14-year-old girl whom we first saw just after birth as a collodium baby.