Heterozygous missense mutations in KCTD1 lead to autosomal dominant scalp-ear-nipple (SEN) syndrome, which manifests primarily with scalp ACC, various additional ectodermal abnormalities (sparse hair, absence of incisors, anhidrosis, hypoplasia or absence of nipples/breasts), and facial dysmorphism, as well as progressive renal fibrosis (7, 10, 11). This evidence concerns the gene KCTD1 and anhidrosis.