Do you see this patient frequently?

  • Multiple café-au-lait spots
  • Freckling in armpit or groin
  • Small skin lumps (cutaneous neurofibromas)
  • Mild learning or developmental challenges
  • Family history of similar findings

Are children with skin changes and learning challenges coming to your practice?

Could these be clues to Neurofibromatosis Type 1?

Diagnosing NF1

Neurofibromatosis type 1 (NF1) can be challenging to diagnose owing to the wide variation in symptoms and manifestations. Patients often visit different specialists and a physician with expertise in NF1 is needed for an accurate diagnosis.1–3

A: The diagnostic criteria for NFI are met in an individual who does not have a parent diagnosed with NF1 if two or more Of the following are present:4

Freckling in the axillary or inguinal region*

Six or more café-au-lait macules > 5 mm in greatest diameter in prepubertal individuals and > 15 mm in greatest diameter in post- pubertal individuals

A distinctive osseous lesion such as sphenoid dysplasia, † anterolateral bowing of the tibia or pseudarthrosis of a long bone

A heterozygous pathogenic NF1 variant with a variant allele fraction of 50% in apparently normal tissue such as white blood cells

Optic pathway glioma A slow-growing brain tumour that forms around the nerves that carry information from the eye to the brain. As the tumour grows it affects the nerves, causing problems with vision.

Two or more iris Lisch nodules identified by slit lamp examination or two or more choroidal abnormalities

Two or more neurofibromas of any type or one plexiform neurofibroma

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

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References:

  • Boyd KP et al. Neurofibromatosis type J Am Acad Dermatol. 2009;61(1):1–16.
  • Ferner RE et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44(2):81–88
  • Miller DT et al. Health supervision for children with neurofibromatosis type 1. Pediatrics. 2019;143(5):e20190660.
  • Legius E et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: An international consensus recommendation. Genet Med. 2021;23(8):1506–1513.