Nonbullous congenital ichthyosiform erythroderma

Disease Overview

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.[4456][4457]

Synonyms

• Ichthyosiform erythroderma, congenital, nonbullous, 1
• NCIE
• Ichthyosiform erythroderma, Brocq congenital, nonbullous form
• Congenital ichthyosiform erythroderma
• CIE
• NBCIE
• Congenital non-bullous ichthyosiform erythroderma
• Erythrodermic ichthyosis
• Non-bullous congenital ichthyosiform erythroderma