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.

To diagnose neurofibromatosis type 1 (NF1), a healthcare professional begins with a review of your personal and family medical history and a physical exam. Your child's skin is checked for cafe au lait spots, which can help diagnose NF1.

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.

2023年1月25日 · Neurofibromatosis type 1 presents with neurofibromas, cafe-au-lait macules, freckling, and optic gliomas. It is a clinical diagnosis. Neurofibromatosis type 2 (NF2) is a disease characterized by bilateral vestibular schwannomas and meningiomas. It has an autosomal dominant inheritance pattern.

2022年5月3日 · 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.

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

2021年5月19日 · Purpose: by incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS).

2021年5月20日 · We have highlighted the changes to the NF1 diagnostic criteria below. The Children’s Tumor Foundation (CTF) has also provided a helpful infographic and diagnostic compariso n. You may also read the full publication here. macules or freckling) should be bilateral.

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.