Revised diagnostic criteria for neurofibromatosis type 1 (NF1)

A: The diagnostic criteria for NF1 are met in an individual who does not have a parent diagnosed with NF1 if 2 or more of the following are present:

6 or more café-au-lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals*
Freckling in the axillary or inguinal region*
2 or more neurofibromas of any type or 1 plexiform neurofibroma
Optic pathway glioma
2 or more iris Lisch nodules identified by slit lamp examination or 2 or more choroidal abnormalities (CAs) – defined as bright, patchy nodules imaged by optical coherence tomography (OCT)/near-infrared reflectance (NIR) imaging
A distinctive osseous lesion such as sphenoid dysplasia,^¶ anterolateral bowing of the tibia, or pseudarthrosis of a long bone
A heterozygous pathogenic neurofibromin 1 (NF1) variant with a variant allele fraction of 50% in apparently normal tissue such as white blood cells

B: A child of a parent who meets the diagnostic criteria specified in A merits a diagnosis of NF1 if 1 or more of the criteria in A are present

* If only café-au-lait macules and freckling are present, the diagnosis is most likely NF1, but exceptionally the person might have another diagnosis such as Legius syndrome. At least 1 of the 2 pigmentary findings (café-au-lait macules or freckling) should be bilateral.

¶ Sphenoid wing dysplasia is not a separate criterion in case of an ipsilateral orbital plexiform neurofibroma.

From: Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: An international consensus recommendation. Genet Med 2021; 23:1506. Copyright © 2021 The Authors. Available at: https://www.nature.com/articles/s41436-021-01170-5 (Accessed on October 4, 2021). Reproduced under the terms of the Creative Commons Attribution License 4.0.

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Revised diagnostic criteria for neurofibromatosis type 1 (NF1)