Three congenital neurocutaneous syndromes arising from a primary ectoblastic defect have been well recognized: (1) the tuberous sclerosis of Bourneville and Brissaud, (2) the neurofibromatosis of von Recklinghausen and (3) hemangiomas of the meninges associated with similar nevi of the skin. Yakovlev and Guthrie1 have grouped these conditions under the general classification of congenital ectodermosis. However, the inclusion of primary melanomatosis of the central nervous system as another member of this group has not been generally appreciated. Reports of this condition are rare. The case to be presented is an example of congenital ectoblastic defect exhibiting itself as primary melanomatosis of the skin, choroid plexus and central nervous system.
REPORT OF A CASE
First Admission.—The patient, a girl, was first brought to the Massachusetts General Hospital on Nov. 20, 1936, at the age of 5 weeks, because of enlargement of the head.The parents and three siblings, aged