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A family with coexistent von Recklinghausen's neurofibromatosis and von Hippel-Lindau's disease

Diseases possibly derived from a common gene

Channing Laboratory and Department of Medicine, Harvard Medical School; Center for Human Genetics, Harvard Medical School; and Departments of Medicine and Pediatrics, Boston City Hospital.

A large kindred has two coexistent neurocutaneous syndromes: Certain members appear to have von Recklinghausen's neurofibromatosis (cutaneous neurofibromata, café-au-lait spots), others have von Hippel-Lindau's disease (angiomatosis retinae, renal cell carcinomas, pancreatic cysts), and at least one individual has a combined syndrome (neurofibromata, café-au-lait spots, pheochromocytomas, cerebellar hemangioblastoma, renal cell carcinoma, pancreatic cysts). Inheritance may be through either two separate genes segregating coincidentally in this family, or a unique single gene with pleiotropic expressivity.

Received for publication February 10, 1975.

Reprint requests should be directed to Dr. Tishler at Channing Laboratory, Boston City Hospital, Boston, MA 02118.