Literature DB >> 808759

A family with coexistent von Recklinghausen's neurofibromatosis and von Hippel-Lindau's disease. Diseases possibly derived from a common gene.

P V Tishler.   

Abstract

A large kindred has two coexistent neurocutaneous syndromes: Certain members appear to have von Recklinghausen's neurofibromatosis (cutaneous neurofibromata, cafe-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, cafe-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.

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Year:  1975        PMID: 808759     DOI: 10.1212/wnl.25.9.840

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  3 in total

1.  Late occurrence of additional ocular and intracranial pathologies in the linear naevus sebaceous (Feuerstein-Mims) syndrome.

Authors:  J Brihaye; M Brihaye-van Geertruyden; J Retif; A M Mercier
Journal:  Acta Neurochir (Wien)       Date:  1988       Impact factor: 2.216

2.  Von Hippel's disease in association with von Recklinghausen's neurofibromatosis.

Authors:  J V Thomas; P L Schwartz; E S Gragoudas
Journal:  Br J Ophthalmol       Date:  1978-09       Impact factor: 4.638

3.  Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.

Authors:  K Ichikawa; C J Crosley; A Culebras; L Weitkamp
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

  3 in total

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