Phakomatoses-Neurocutaneous Syndromes

The phakomatoses are a heterogeneous group of neurocutaneous syndromes with hamartomas in multiple organ systems including skin and the central nervous system. The phakomatoses are neurofibromatosis type 1, neurofibromatosis type 2, tuberous sclerosis, cerebroretinal angiomatosis, encephalotrigeminal angiomatosis, ataxia-telangiectasia, incontinentia pigmenti, racemose angioma and hemangiectatic hypertrophy. This chapter will discuss the systemic and ocular findings for each of these disorders.