A family with coexistent von Recklinghausen's neurofibromatosis and von Hippel‐Lindau's disease
- 1 September 1975
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 25 (9) , 840
- https://doi.org/10.1212/wnl.25.9.840
Abstract
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.Keywords
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