BMJ Case Reports 2013; doi:10.1136/bcr-2013-008688

Successful experimental treatment of congenital ichthyosis in an infant

  1. Brandy Deffenbacher
  1. Department of Family Medicine, University of North Carolina, Chapel Hill, North Carolina, USA
  1. Correspondence to Dr Brandy Deffenbacher, brandy.deffenbacher{at}


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.

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