The Phakomatoses

Abstract

Phakomatoses, also known as neuro-oculo-cutaneous syndromes, are a group of genetic and acquired disorders characterized by systemic hamartomas, primarily in the central nervous system, eyes, and skin. These disorders are generally autosomal dominant, multisystemic, and appear at an early age. Examples of phakomatoses include von-Hippel-Lindau disease, tuberous sclerosis, neurofibromatosis type I and II, Sturge-Weber syndrome, ataxia telangiectasia, Wyburn-Mason syndrome, and retinal cavernous hemangiomatosis. Rarer phakomatoses such as sebaceous nevus syndrome, phakomatosis pigmentovascularis, and neurocutaneous melanosis have also been described. Diagnosis and management of phakomatoses often require a multidisciplinary approach, which may include neurology, ophthalmology, surgery, psychology, physical rehabilitation, and/or genetic counseling. Phakomatoses are often life-long conditions, so many patients also require long-term follow-up.