Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma) Clinical Presentation

Updated: Aug 23, 2019
  • Author: Brittany G Craiglow, MD; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

Epidermolytic ichthyosis (EI) presents at birth or shortly thereafter with erythema, blistering, and/or erosions. Phenotype evolves in early infancy to varying degrees of generalized hyperkeratosis.

Epidermolytic ichthyosis is inherited in an autosomal dominant fashion, so patients may have an affected family member; however, as many as half of reported cases arise as a result of sporadic mutations. Rare autosomal recessive cases have also been reported. [10, 11]

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Physical Examination

Epidermolytic ichthyosis presents in neonates as widespread superficial blisters, which, when ruptured, leave raw, denuded areas. Within the first few months of life, hyperkeratosis begins to predominate, and while skin fragility persists over time, it becomes far less severe, with most patients experiencing infrequent blisters and erosions. Hyperkeratosis can vary from mild to severe and is typically more prominent over joints and in flexural sites. The scale is classically described as corrugated or cardboardlike. Palmoplantar keratoderma is seen primarily in patients with KRT1 mutations and can be severe and disabling at times. Some patients also experience joint contractures. Hair, nails, and teeth are normal and ectropion is generally absent. Superficial bacterial infections are common and are often associated with a characteristic odor of the skin.

See the images below.

The scale in epidermolytic ichthyosis is classical The scale in epidermolytic ichthyosis is classically described as "corrugated". Patients often experience erosions as a result of skin fragility.
The scale in epidermolytic ichthyosis is classical The scale in epidermolytic ichthyosis is classically described as "corrugated". Patients often experience erosions as a result of skin fragility.
Palms and soles may have varying degrees of hyperk Palms and soles may have varying degrees of hyperkeratosis.

Epidermolytic ichthyosis has been infrequently found to be associated with other clinical findings. Rare cases of patients with epidermolytic ichthyosis and hypocalcemic rickets, with or without vitamin D resistance, have been reported. [12, 13] A report also describes epidermolytic ichthyosis and congenital platelike osteoma cutis in a child, [14] as well as epidermolytic ichthyosis localized to the vulva. [15]

Additional clinical images of epidermolytic ichthyosis are below.

Hyperkeratosis involving the abdomen. Hyperkeratosis involving the abdomen.
Hyperkeratosis involving the knee. Hyperkeratosis involving the knee.
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Complications

Patients with epidermolytic ichthyosis are at an increased risk for recurrent infections.

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