Curr Probl Diagn Radiol 2021 Aug 28. Epub 2021 Aug 28.
Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO.
Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, tooth enamel, and central nervous system. Other organs are also involved in some syndromes, mainly cardiovascular, pulmonary, renal, and musculoskeletal systems. Currently, more than sixty distinct entities belonging to this category have been described in the literature. Read More