The Fifth Phacomatosis

Medullated Nerve Fibers

“…By coin¬ cidence, however, we found a fundus pic¬ ture that was the same as the one of his right eye (Fig 2, left) in an article by Hermans et al 5 From this article, in which he was case 2, we learned that he was born by cesarean section as the youngest of six children, one of whom had a cleft palate. No further investigation was possible, so it is unclear whether they too were afflicted.…”

Neurologic Symptoms of Basal Cell Nevus Syndrome

“…and intracerebral cysts (25). Brain tumors have been described in a few pediatric cases: medulloblastomas (12,14,15,22), astrocytomas (4, 21) of the cerebellum, one meningioma (26), as well as a combination of craniopharyngioma and meningioma (24).…”

Basal Cell Nevus Syndrome Associated with Malignant Melanoma of the Iris

“…If left untreated the tum or m ay destroy the eye, but because of its visibility it is usually diagnosed early and local removal then has a good prognosis [10, 11J. Van der Hoeve defined von Recklinghausen's, Pringle-Hourneville's, von Hippel-Lindau's and Sturge-W eber's diseases as a group of congenital, sometimes familial and hereditary affections, characterised by a syndrome of nevoid changes developing in the skin, eyes and central nervous system and introduced the term phacomatosis. Hermans, Grosfeld, Valk and Spaas [12,13,14] consider the basal cell nevus syndrome to be a fifth phacomatosis because of its congenital and familial occurrence, and variously combined changes in the skin, eyes, central nervous system and other organs. The finding of a malig nant melanoma of the iris may favor this concept.…”