Which specialist consultations are beneficial to patients with epidermolytic ichthyosis (EI)?

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

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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