Neurofibromatosis 1
Subject
Subject Source: Medical Subject Headings
Scope Note: Notes = An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. ,Created For = LHSA-Dott
Found in 21 Collections and/or Records:
PR2.19512, 1958
Item
Identifier: LHB1 CC/24/PR2.19512
Scope and Contents
Correspondence, notes, reports and charts relating to male patient from Edinburgh and the Lothians aged 67 at first examination in 1958. Conditions mentioned include: neurofibromatosis; right facial palsy; memory deterioration; and dizziness. No treatment given. Patient discharged.
Dates:
1958