Cockayne syndrome (CS) is an autosomal recessive genetic disorder with an occurrence of 2.5 cases per million births worldwide, and it is caused by mutations in the two genes ERCC8, also known as CSA, and ERCC6, commonly described as CSB, accounting for 20% and 80% of CS cases, respectively (1–3). The gene discussed is ERCC8; the disease is Cowden syndrome 1.