Epidermolytic ichthyosis (EI), formerly known as epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma (bullous CIE), is a form of congenital ichthyosis. It is inherited in an autosomal dominant fashion, with about 50% of cases representing spontaneous mutations. Epidermolytic ichthyosis presents at birth with erythroderma, blisters, and erosions and evolves over time into varying degrees of hyperkeratosis.
Epidermolytic ichthyosis results from heterozygous mutations in the genes encoding keratin 1 (KRT1) and keratin 10 (KRT10). Mutations cause defects that compromise keratin alignment and assembly of intermediate filaments, leading to cellular collapse, blistering, and impaired barrier function. Compensatory hyperproliferation leads to hyperkeratosis.
The incidence of epidermolytic hyperkeratosis is estimated to be 1 in 200,000-300,000.
No racial predilection is apparent for epidermolytic ichthyosis.
No sex predilection is recognized for epidermolytic ichthyosis.
Epidermolytic ichthyosis is a lifelong condition with an onset at birth or in the neonatal period.
Epidermolytic ichthyosis is a lifelong condition. Some patients may experience amelioration of symptoms as they age. Risk for morbidity and mortality is highest in the neonatal period, where infants are at increased risk for complications such as sepsis and dehydration because of impaired barrier function. Later in life, affected patients may experience recurrent skin infections.
Educate patients with epidermolytic ichthyosis about the potential of passing the genetic defect on to offspring.
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