Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma) Treatment & Management

Updated: Nov 20, 2018
  • Author: Brittany G Craiglow, MD; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Medical Care

Accurate diagnosis of epidermolytic ichthyosis (EI) is important in order to properly inform and counsel parents. Genetic counseling and prenatal diagnosis also can be offered. [18]

Newborns with epidermolytic ichthyosis who have denuded skin are at increased risk for infection, secondary sepsis, and electrolyte imbalance. These newborns should be transferred to the neonatal ICU to monitored and treated as needed. They should be handled gently to avoid further trauma to the skin.

Wound care for blistering and moisturization/emollients are important in the newborn period. In older children, topical emollients and topical keratolytics are generally the mainstays of treatment. The accumulation of scale predisposes to overgrowth of bacteria, in particular with Staphylococcus aureus, which is often associated with odor. Patients may benefit from the use of mild antibacterial soaps or dilute bleach baths. Some patients may also benefit from therapy with oral or topical retinoids. [19, 20]

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Surgical Care

No surgical care is needed or recommended for epidermolytic ichthyosis.

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Consultations

Refer patients who are considering conceiving children to a geneticist for reproductive concerns and assistance. Prenatal diagnosis can be made by ultrastructural analysis and by direct gene sequencing.

Prenatal diagnosis of epidermolytic ichthyosis can be performed by ultrastructural analysis of fetal skin biopsy specimens and amniotic fluid cells. Keratin 1 and keratin 10 are expressed suprabasally as early as week 14 of gestation; normal fetal keratinization does not begin until the 24th week. To date, keratin filament aggregates have been detected for diagnostic purposes in the 19th week of gestation.

Chorionic villus sampling can diagnose epidermolytic ichthyosis earlier by direct gene sequencing if the familial mutation is known. The earliest documented diagnosis by this method is at the 15th week of gestation, but the chorionic villus sampling theoretically can be tested as early as the eighth week of gestation.

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Diet

No special diet is needed for patients with epidermolytic ichthyosis.

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Activity

Activity restrictions are not necessary for patients with epidermolytic ichthyosis.

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Long-Term Monitoring

Schedule routine follow-up visits as needed for symptomatic relief or to follow laboratory studies during systemic therapies for epidermolytic ichthyosis.

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