CONGENITAL ICHTHYOSIFORM ERYTHRODERMA

By Gary M. White, MD

Congenital ichthyosiform erythroderma


Congenital ichthyosiform erythroderma (CIE) is a autosomal recessive congenital ichthyosis (ACRI) caused by various gene mutations including TGM1, ALOXE3 and ALOX12B and ABCA12 some of which affect epidermal lipoxygenase activity and epidermal barrier function. It is also known as nonbullous CIE. For bullous CIE, see epidermolytic hyperkeratosis. Patients with Chanarin-Dorfman Syndrome may also present with CIE.

Clinical

The skin is diffusely erythematous with fine scaling in this variant of AR ichthyosis. Occasionally, there are neurologic abnormalities. Dehydration may be significant due to defective epidermal barrier function. Some patients have died due to secondary infections and septicemia [BJD 2015;173;285].

Treatment

For treatment in the neonatal period, see collodion baby.

Later, emolliation, keratolytics, topical steroids and calcipotriol may be tried.

Additional Pictures

Congenital ichthyosiform erythroderma Congenital ichthyosiform erythroderma

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