Frequently I receive questions, through both e-mails and individuals who are referred to my office, regarding patients who have one isolated feature of NF but do not have a confirmed diagnosis of ...

Mobile images may be reliable for assessing cutaneous neurofibroma (cNF) features in patients with neurofibromatosis type 1 (NF1), according to a crowdsourced registry study that also suggests ...

Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by heterozygous mutations of the NF1 gene. The most frequent clinical manifestations are alterations of skin pigmentation, iris ...

The symptoms of neurofibromatosis vary widely between individuals, with some people only experiencing mild health problems and others finding they are severely affected on a day-to-day basis. Some of ...

Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...

This genetic condition causes tumors to form on nerves throughout the body, often showing up as skin changes. The right treatment and management approach can help address symptoms and potential ...

Panelists discuss how plexiform neurofibromas in NF1 often emerge in early childhood with progressive growth and symptoms such as disfigurement, pain, and neurologic deficits, noting that rapid ...

NF1 microdeletion syndrome is a common dominant genomic disorder responsible for around 5% of type I neurofibromatosis cases. The majority of cases are caused by mutations arising within the NF1 gene.

An analysis of patients with a syndrome similar to the genetic disorder, neurofibromatosis type 1, indicates that diagnosis may be difficult because of shared clinical findings, such as certain ...

NF affects 1 in 3,000 births, and while the FDA in 2020 approved the first-ever treatment for NF1, Koselugo (selumetinib) for inoperable plexiform neurofibromas, there is no cure at this time for NF, ...

Neurogenetic disorders, such as neurofibromatosis type 1 (NF1), are diseases caused by a defect in one or more genes, which can sometimes result in cognitive and motor impairments. Better ...