Nonbullous congenital ichthyosiform erythroderma

Definition

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin.

Cause

• 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.
• All of the genes associated with NBCIE provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis).
• Gene mutations impair the respective protein's function or structure within the epidermis, which prevents this outermost layer of skin from being an effective barrier before and after birth.

Inheritance

Autosomal recessive inheritance, a 25% chance

• This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
• The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Signs and symptoms

• 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).

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Ectropion(Eyelid turned out)
• Erythroderma
• Hypohidrosis(Decreased ability to sweat)
• Ichthyosis
• Pruritus(Itching)

30%-79% of people have these symptoms

• Abnormality of the nail
• Alopecia(Hair loss)
• Corneal erosion(Damage to outer layer of the cornea of the eye)
• Failure to thrive(Faltering weight)
• Hearing impairment(Deafness)
• Keratitis(Corneal inflammation)
• Palmoplantar keratoderma(Thickening of palms and soles)

5%-29% of people have these symptoms

• Erythema
• Everted lower lip vermilion(Drooping lower lip)
• Short finger(Stubby finger)
• Short stature(Decreased body height)
• Short toe(Short toes)
• Small nail(Small nails)
• Thin nail(Thin nails)

Diagnosis

• Nonbullous congenital ichthyosiform erythroderma (CIE)
• Erythroderma (red skin) with fine, white scale and often with palmoplantar hyperkeratosis
• Molecular testing approaches can include use of a multigene panel, serial single-gene testing and more comprehensive genomic testing.[1].

Treatment

• There is currently no cure for nonbullous congenital ichthyosiform erythroderma (NBCIE).
• Treatment generally focuses on managing the specific signs and symptoms each individual has.
• For newborns, the most important goals are to provide a moist environment in an isolette, and to prevent and treat infections.
• Petrolatum-based creams and ointments are typically used to keep the skin soft and hydrated.
• As children age, keratolytic agents (agents that help the skin loosen and shed) such as alpha-hydroxy acid or urea preparations can be used to promote the peeling and thinning of the outer layer of the skin.
• For individuals with severe skin involvement, oral retinoid therapy may be recommended.
• However, because this is known to cause abnormalities in a developing fetus, it should be used with caution in women of child-bearing age.
• In general, any agents that irritate the skin should be avoided.
• Ectropion (turning out of the eyelid) can cause dryness of the cornea (especially at night), so artificial tears or prescription ointments may be used to keep the cornea moist.

NIH genetic and rare disease info

• NIH info on Nonbullous congenital ichthyosiform erythroderma

Nonbullous congenital ichthyosiform erythroderma is a rare disease.

Nonbullous congenital ichthyosiform erythroderma Resources
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