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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.

This article has been cited by other articles:

				R. W. Hoffman, D. W. Gardner, and F. L. Mitchell Intrathoracic and Multiple Abdominal Pheochromocytomas in Von Hippel-Lindau Disease Arch Intern Med, October 1, 1982; 142(10): 1962 - 1964. [Abstract] [PDF]