To date, only one pair of siblings with homozygous variants in ELOVL1, who presented with a pronounced congenital ichthyosis and a complex movement disorder, and two unrelated individuals with an identical heterozygous missense variant presenting with mild ichthyosis and progressive spasticity of the lower limb, have been reported.5, 6, 7. The gene discussed is ELOVL1; the disease is ichthyosis.