Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma)

Updated: Jun 03, 2016
  • Author: Brittany G Craiglow, MD; Chief Editor: Dirk M Elston, MD  more...
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Overview

Background

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.

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Pathophysiology

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.

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Epidemiology

Frequency

The incidence of epidermolytic hyperkeratosis is estimated to be 1 in 200,000-300,000.

Race

No racial predilection is apparent for epidermolytic ichthyosis.

Sex

No sex predilection is recognized for epidermolytic ichthyosis.

Age

Epidermolytic ichthyosis is a lifelong condition with an onset at birth or in the neonatal period.

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Prognosis

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.

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Patient Education

Educate patients with epidermolytic ichthyosis about the potential of passing the genetic defect on to offspring.

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