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.

2023年8月13日 · Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021 Aug; 23 (8):1506-1513. [ PMC free article : PMC8354850 ] [ PubMed : 34012067 ]

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.

The pathogenesis, clinical features, and diagnosis of NF1 are reviewed here. Management and prognosis are discussed separately (see "Neurofibromatosis type 1 (NF1): Management and prognosis"). The other two forms of neurofibromatosis, NF2 and schwannomatosis, are also discussed in detail separately.

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.

2023年1月25日 · Cafe-au-lait macules are one of the 7 diagnostic criteria for neurofibromatosis type 1. The lesions are sharply demarcated with a homogenous appearance. Axillary and groin freckling, or Crowe sign is the most specific criteria for neurofibromatosis type 1.

PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish...

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.

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).