Lamellar ichthyosis with a novel NIPAL4 variant showing dramatic response to high-dose vitamin D therapy

Therapeutic options are limited in cases of autosomal recessive congenital ichthyosis with inadequate response to topical agents. Acitretin is the current standard of care in these patients, but its use is limited by cumulative toxicity when prolonged therapy is needed in children. There is evidence to suggest that high doses of vitamin D can normalize keratinization and suppress inflammatory cytokines. Here, we report a patient with lamellar ichthyosis with a novel mutation in the Nipa-like Domain-Containing 4 (NIPAL4) gene. High dose short-term vitamin D therapy was administered with a dramatic and sustained clinical response.