Successful experimental treatment of congenital ichthyosis in an infant

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].…”

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.…”