Cold Spring Harb Mol Case Stud 2021 Oct 14. Epub 2021 Oct 14.
Epilepsy Research Centre, Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Children Research Institute, Parkville, Victoria, Australia
Nevus sebaceous syndrome (NSS) is a rare multisystem neurocutaneous syndrome, characterised by a congenital nevus, and may include brain malformations such as hemimegalencephaly or focal cortical dysplasia, ocular and skeletal features. It has been associated with several eponyms including Schimmelpenning and Jadassohn. The isolated skin lesion, nevus sebaceous, is associated with post-zygotic variants in or in all patients studied. Read More