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Since the first publication in 1921 by van der Hoeve 1 describing the association of benign circumscribed retinal tumors with tuberous sclerosis of the central nervous system (Bourneville), I have been on the watch among clinical and private patients for this curious condition. The first case corresponding at least in part to this syndrome has recently been seen (1939). For some reason, the condition, a hereditary one, seems to occur or to be observed with especial frequency in Holland, so that van der Hoeve has collected records of a large number of affected families from his own experience. He coined the name "phakoma" to describe congenital tumors arising in various tissues which were distinct from nevi by the absence of nevus cells. It is from the Greek "phakos," the term for "mother spot," or birthmark, and has nothing to do with the root word for lens. He has shown that
GIFFORD SR. PHAKOMA RETINAE AND ADENOMA SEBACEUM. Arch Ophthalmol. 1940;24(5):967–971. doi:10.1001/archopht.1940.00870050117008
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