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Successful experimental treatment of congenital ichthyosis in an infant
1Department of Family Medicine, University of North Carolina, Chapel Hill, North Carolina, USA. brandy.deffenbacher@ucdenver.edu
Insights
A novel topical emollient containing N-acetylcysteine (NAC) and urea shows promise for treating congenital ichthyosis in infants. This treatment offers a safer alternative to existing therapies, reducing overdose risks in newborns with this rare genetic skin condition.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Ichthyosis is a rare genetic disorder affecting skin keratinization, leading to severe skin barrier defects.
- Infants with ichthyosis experience complications like dehydration, temperature dysregulation, and infections.
- Current treatments include topical keratolytics, emollients, and systemic retinoids, but infants face overdose risks with topical agents.
Abstract:
Ichthyosis is a rare genetic disease that causes defects in skin keratinisation. Infants born with this disease have tight shiny skin that inhibits limb and ear mobilities, eyelid and lip deformities and poor hair and nail growths. In addition, the barrier properties of the skin are disrupted, which leads to dehydration, body temperature regulation difficulties and increased susceptibility to infection. The treatments currently available include topical keratolytics, emollients, and for severe disease systemic retinoids. Given the increased permeability of the skin and increased body surface area infants are particularly susceptible to accidental overdose from the topical keratolytic treatments currently available. An experimental emollient of 10% N-acetylcysteine (NAC) and 5% urea was recently used with success in Argentina. A newborn with congenital ichthyosis cared for in our clinic failed his initial treatment of topical emollients. He was subsequently treated successfully with off-label use of a topical 5% NAC and 5% urea emollient.
