Phacomatosis pigmentokeratotica is a "pseudodidymosis"

Abstract

In phacomatosis pigmentokeratotica, papular nevus spilus coexists with nevus sebaceus. The disorder was thought to be a didymosis with early postzygotic recombination. In this issue, however, Groesser and co-workers provide a new concept. Both nevi originate from a single heterozygous HRAS mutation in a pluripotent progenitor cell. This new understanding has implications for other proposed examples of didymosis in humans.