Falik-Zaccai et al.7 reported an 18-year-old patient who carried compound heterozygous mutations (i.e., p.R683Q in one allele and p.R616Q in the other allele of the ERCC2 gene) but had a mild sun sensitivity, no skin cancer and no neurological abnormalities. The gene discussed is ERCC2; the disease is skin neoplasm.