Phakomatoses (neurocutaneous syndromes) are a group of chronic diseases characterized by neoplasms derived from the embryonic ectoderm (skin, central nervous system, peripheral nervous system, and eyes). Also, they affect structures derived from the mesoderm (blood vessels, bones, and cartilage) and the endoderm (epithelial lining of the gastrointestinal tract). The phakomatoses concept was formulated early in the twentieth century by an ophthalmologist called “van der Hoeve,” and was initially describing three disorders (neurofibromatosis, tuberous sclerosis, and von Hipple-Lindau syndrome) according to their ophthalmologic manifestations. Many of the phakomatoses have a genetic origin, although some are sporadic. These syndromes result in the formation of angiomatous malformations, hamartomatoses, cystic lesions and abnormalities in skin pigmentation. Phakomatoses also have high incidence of seizure disorders (75–90%).
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(2009). Phakomatoses (Neurocutaneous Syndromes). In: Al-Tubaikh, J.A., Reiser, M.F. (eds) Congenital Diseases and Syndromes. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-00160-4_6
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