Successful experimental treatment of congenital ichthyosis in an infant

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.

Ocular manifestations, complications and management of congenital ichthyoses: a new look

“…Deffenbacher74 reported the initial use of 10% N -acetylcysteine and 5% urea in a newborn with LI, who initially failed to improve with standard treatment of topical emollients. After 3 days of once daily use, the mother noted some decreased thickness of scales, but also noted increased skin sensitivity and erythema.…”

Topical N‐Acetylcysteine for the Treatment of Lamellar Ichthyosis: An Improved Formula

“…The usefulness of topical N‐acetylcysteine in the treatment of lamellar ichthyosis has been shown in isolated case reports since it was first described . The inhibition of keratinocyte proliferation is thought to cause the therapeutic effect of this drug on hyperproliferative skin disorders without a cytotoxic effect .…”

N-of-1 genomic medicine for the rare pediatric genetic diseases

“…In contrast, N-of-1 studies involve trial, assessment, and modification of care in an individual patient. In the context of research, N-of-1 trials are generally published as case reports [15][16][17][18][19]. Gabler et al [20] and Duan et al [21] recently published a comprehensive review of single patient trials.…”

“…Willoughy et al [48] reported decreased seizure activity following off-label use of nicotine patches in a patient with autosomal dominant nocturnal frontal lobe epilepsy caused by a mutation in the neuronal nicotinic acid acetylcholine receptor a4 subunit. Deffenbacher [17] reported the off-label use of N-acetylcysteine and urea as a topical treatment for congenital ichthyosis. Acamprosate and bumetanide have both been used as experimental treatments in individuals with Fragile X syndrome, in attempts to improve behavior and communication skills [49,50].…”