Tuberous Sclerosis

Fritz E. Dreifuss, MD
JAMA. 1989;261(3):455-456. doi:10.1001/jama.1989.03420030129053.
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This book requires no introduction. The first edition was published in 1979 and was for years the ne plus ultra concerning information on tuberous sclerosis, based in large part on the comprehensive medical records system of the Mayo Clinic, which allowed Dr Gomez access to a large number of well-studied patients with this disorder.

The rationale for a second edition published nine years later requires no defense. There have been major advances in disciplines critical to better understanding of tuberous sclerosis. These include neuroimaging, molecular genetics, and histopathology. The embracing concept of phakomatoses or neuroectodermal dysplasias, derided by Critchley in his foreword to the first edition, has received a formal coup de grace by the confirmation that not only are neurofibromatosis and tuberous sclerosis entirely distinct genetic entities by virtue of their location on the human genome, but that, moreover, the distinctions among various forms of neurofibromatosis are now confirmed


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