Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases.

摘要

TSC and NF1 are the most common of the neurocutaneous diseases, and both are autosomal dominant with a high spontaneous mutation rate. For diagnosis, two features are necessary for each disease. Skin findings for each are especially helpful for diagnosis, as is neuroimaging in TSC. For NF1, neuroimaging is not yet reliable for diagnosis. In children, brain symptoms cause most of the morbidity in TSC, and nerve sheath and nervous system tumors as well as learning disabilities cause major morbidity in NF1. Renal disease becomes a serious problem for adults with TSC. The TSC1, TSC2, and NF1 genes function as tumor suppressor genes and have other functions that are being investigated. Blood tests for diagnosis have a high false-negative rate. Therapies for TSC and for NF1 are both medical and surgical.