Neurofibromatosis Type 1: Diagnostic Timelines in Children

Background and objectives: Neurofibromatosis type 1 (NF1) is a challenging diagnosis in young children without a known family history. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules (CALMs) and freckling as a single diagnostic criterion.

Patients and methods: Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years of age who were seen at our hospital. The medical records of those included were reviewed to identify the diagnostic criteria for NF1. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. CALMs and freckling were assessed as a single diagnostic criterion, and genetic evidence was used to confirm highly suspicious cases.

Results: We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history.

Conclusions: Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children.

CITATION  Actas Dermosifiliogr. 2023 Mar;114(3):T187-T193. doi: 10.1016/j.ad.2022.10.043.  Epub 2023 Jan 27.