diagnosis of NF1 can be given if an individual has the following manifestations. The term “mutation” is no longer accepted; pathogenic variant is now the preferred term. Genetic analysis is not REQUIRED for diagnosis but may allow for an earlier diagnosis.

We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended.

NF1, previously known as von Recklinghausen disease, is the most common type. The hallmarks of NF1 are multiple café-au-lait macules and neurofibromas. The condition is called "segmental NF1" when clinical features are limited to one area of the body due to somatic mosaicism of a pathogenic variant in the NF1 gene.

May 19, 2021 · We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings....

Results: We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended.

Aug 13, 2023 · Neurofibromatosis-1 (NF-1), or Von Recklinghausen disease, is one of the inheritable neurocutaneous disorders manifested by developmental changes in the nervous system, bones, and skin. It is an autosomal dominant disorder.

By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, new research has resulted in the revision of diagnostic criteria for neurofibromatosis type 1 (NF1) and the establishment of diagnostic criteria for …

Clinicians should be aware that some individuals with mosaic/segmental NF1 fulfil the diagnostic criteria as they present with six or more café au lait patches with skin‐fold freckling or neurofibromas.

May 3, 2022 · NF1 is characterized by multiple café-au-lait macules, skinfold freckling, iris Lisch nodules, tumors of the nervous system, learning disability, and other features. Legius syndrome is phenotypically similar to NF1 but has a distinct genetic etiology.

First-degree relative (parent, sibling, or offspring) with NF-1 by the above criteria.