Recently, a de novo mutation in the ELOVL1 gene was identified in two patients with a neurocutaneous disorder.17, 18 These patients exhibited similar symptoms and carried an identical heterozygous mutation, which changed the Ser residue at 165 to Phe in the ELOVL1 protein.17, 18 Although the mutation abolished ELOVL1 enzymatic activity,18 it is unclear whether the disorder is caused by haploinsufficiency or an autosomal dominant mode of inheritance. Here, ELOVL1 is linked to neurocutaneous syndrome.