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تسجيل

neurofibromatosis type 1 (OMIM 162200)

المؤلف:  Wass, J. A. H., Arlt, W., & Semple, R. K. (Eds.).

المصدر:  Oxford Textbook of Endocrinology and Diabetes

الجزء والصفحة:  3rd edition , p1062

2026-09-05

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Neurofibromatosis type 1 was first described by Von Recklinghausen in 1882 and is an autosomal dominant syndrome characterized by neuro- ectodermal abnormality and variable systemic manifestations affecting bone, nervous system, eyes, and other sites. The NF1 gene maps to chromosome 17 and is 57 exons in length. Generally, a diagnosis of neurofibromatosis type 1 is made on clinical criteria (including café- au- lait macules, neurofibromas, axillary or inguinal freckling, optic gliomas, Lish nodules in the iris, or a first- degree relative with a diagnosis of NF) and genetic testing is not routinely performed owing to the large size of the gene. Many mutations occur de novo with no preceding family history. However, recent reductions in the cost of next generation sequencing, have facilitated genetic testing in patients with suspected NF1. PC is a rare feature, affecting 0.1– 6% of all patients with NF1. The median age of onset is approximately 41 years and most patients with NF1 will not have PC as the presenting feature. Extra- adrenal and malignant tumours are rarely associated with NF1 but up to a third of patients in one large study developed bilateral disease.