ERCC2 and Cowden syndrome 1: In this report we found a 19-year-old boy with DFSP carries a novel heterozygous germline <i>ERCC2</i> mutation, which belongs to the nucleotide excision repair (NER) pathway and genetic defects in <i>ERCC2</i> may contribute to the cancer susceptibility xeroderma pigmentosum (XP), Cocaine syndrome (CS), and trichothiodystrophy (TTD).