Epidermolytic ichthyosis

Alternate names

Bullous congenital ichthyosiform erythroderma; epidermolytic hyperkeratosis; EHK; Congenital bullous ichthyosiform erythroderma; BCIE; Bullous ichthyosiform erythroderma congenita; Bullous ichthyosiform erythroderma; Bullous erythroderma ichthyosiformis congenita of Brocq

Definition

Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin.

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Cause

EI is caused by changes (mutations) in the KRT1 or KRT10 genes.

Inheritance

Many cases of epidermolytic ichthyosis (EI) are sporadic. This means they result from a new mutation in one of the responsible genes (KRT1 or KRT10), in people with no family history of EI. However, while people with sporadic EI did not inherit the condition from a parent, they may still pass the condition on to their children.

Inherited cases of EI usually have an autosomal dominant inheritance pattern. This means that having a mutation in only one copy of KRT1 or KRT10 in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Typically, EI due to a new mutation will follow autosomal dominant inheritance in subsequent generations.

Very rarely, EI caused by mutations in the KRT10 gene is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

• 25% (1 in 4) chance to be affected
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% chance to be unaffected and not be a carrier.

Signs and symptoms

• Hyperkeratosis (thickening of the skin) develops within months and worsens over time.
• Blister formation decreases, but may still occur after skin trauma or during summer months.
• Skin can be itchy and smelly, and prone to infection.
• Other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure.

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

• Abnormal blistering of the skin(Blistering, generalized)
• Congenital bullous ichthyosiform erythroderma
• Erythroderma
• Poor appetite(Decreased appetite)
• Weight loss

30%-79% of people have these symptoms

• Cutaneous photosensitivity(Photosensitive skin)

5%-29% of people have these symptoms

• Conjunctival hamartoma
• Palmoplantar keratoderma(Thickening of palms and soles)
• Skin ulcer(Open skin sore)

Diagnosis

Molecular Genetics Tests may include:

• Targeted variant analysis
• Sequence analysis of select exons
• Deletion/duplication analysis
• Sequence analysis of the entire coding region

Treatment

• At this time, there is no cure for epidermolytic ichthyosis (EI) and treatment is a challenge.
• The main goal of therapy is to ease the symptoms.
• This may be achieved with the following, sometimes in combination:
• Topical keratolytics (medications which help shed outer layers of skin) - examples include lactic acid, alpha-hydroxy acid, or urea.
• Topical emollients (products that soften the skin)
• Topical retinoids or oral retinoids - these can significantly improve symptoms, but care must be taken to avoid causing increased skin fragility.
• Antiseptic washes can reduce the risk for bacterial infections so as to avoid frequent antibiotic therapy.
• When blistering is severe, treatment is focused on wound healing and preventing infection.
• Affected newborns with open skin lesions should be transferred to the neonatal ICU to be monitored and treated for infections as needed.
• They should be handled gently to avoid further trauma to the skin.

NIH genetic and rare disease info

• NIH info on Epidermolytic ichthyosis

Epidermolytic ichthyosis is a rare disease.

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