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October 1943


Arch Ophthalmol. 1943;30(4):494-498. doi:10.1001/archopht.1943.00880220086008

Tuberous sclerosis, a disease entity first described by Bourneville in 1880 and often given his name, cannot really be considered by itself but must be looked on as a part of a group of diseases known as the phakomatoses. This name, derived from the Greek word pakós in its meaning of "birthmark," was suggested for the group because of the common characteristic of cutaneous lesions. There are now recognized in this classification four separate entities : tuberous sclerosis, or Bourneville's disease ; neurofibromatosis, or von Recklinghausen's disease ; angiomatosis, or von Hippel-Lindau disease, and, most recently added, the Sturge-Weber syndrome. All are characterized, as previously stated, by cutaneous lesions, which are respectively typical, and by an amazing variety of other lesions scattered throughout the body. The lesions, however, are predominantly important in the eye and make the syndromes commandingly significant to the ophthalmologist. But it is not the purpose of this paper to

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