Legius syndrome

Legius syndrome is an autosomal dominant condition whose defining feature is cafe au lait spots, flat patches of darker skin. It was first described in 2007 and is caused by mutations in the SPRED1 gene. Because its skin findings resemble those of neurofibromatosis type I, it is often mistaken for that disorder, and it is also known as neurofibromatosis type 1-like syndrome. The record here is descriptive only: it states how the condition was identified and named, and the genetic cause that separates it from the condition it is confused with, and it gives no guidance on diagnosis or care.