NEUROFIBROMATOSIS originally described by von Recklinghausen in 1882 is often depicted as a chronic progressive hereditary disease characterized by pigmentation of the skin, cutaneous lesions, and numerous tumors developing in association with elements of both the central and peripheral nervous systems. This entity is often complicated by abnormalities of the bones and various malformations. The central nervous system is involved with tumors of the cranial nerves and the brain proper. Mental deficiency is common. Endocrine abnormalities in the form of somatic retardation, under development, and pheochromocytomas have also been encountered. The frequency of von Recklinghausen's disease as studied in the state of Michigan was found to be one case in each 2,500 to 3,300 births. The trait is dependent on a dominant gene and 50% of the cases have affected relatives. Sarcomatous degeneration may occur in multiple neurofibromas and result in death. Low-grade malignant changes may be present in as
LUKASH WM, MORGAN RI, SENNETT CO, NIELSON OF. Gastrointestinal Neoplasms in von Recklinghausen's Disease. Arch Surg. 1966;92(6):905–908. doi:10.1001/archsurg.1966.01320240093020
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.