Von Hippel's disease in association with von Recklinghausen's neurofibromatosis.
Ten members of a large family who showed manifestations of either von Hippel-Lindau disease or von Recklinghausen's neurofibromatosis were examined. Three of 10 members were found to have retinal angiomas which had not been present on fundus examination 3 years previously. These angiomas were associated with ocular and systemic signs of neurofibromatosis. These cases show overlapping manifestations of different phakomatoses and provide support for the concept of a common aetiology for these diseases.
D000293:Adolescent; D000328:Adult; D000798:Angiomatosis / Q000150:complications*; D005134:Eye Neoplasms / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D012160:Retina; D012878:Skin Neoplasms / Q000150:complications* / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000235:genetics