[Translated article] Neurofibromatosis Type 1: Diagnostic Timelines in Children.

Area of Science:

• Genetics
• Pediatric Medicine
• Dermatology

Background:

• Diagnosing neurofibromatosis 1 (NF1) presents challenges in young children, particularly those without a known family history.
• Early and accurate diagnosis is crucial for timely management and intervention.

Purpose of the Study:

• To determine the diagnostic delay for NF1 in children lacking a family history.
• To evaluate the impact of considering café-au-lait macules and skinfold freckling as a unified diagnostic criterion.

Main Methods:

• A retrospective, descriptive, observational study was conducted on 108 pediatric patients diagnosed with NF1.
• Medical records were reviewed to pinpoint the time diagnostic criteria were met.
• Patients were grouped based on the presence or absence of a parental NF1 history.

Main Results:

• The average age of NF1 diagnosis was 3.94 years overall.
• Patients without a family history experienced an average diagnostic delay of 3 years and 8 months, with diagnosis at 4 years and 8 months.
• Patients with a known parental history were diagnosed significantly earlier, around 1 year of age.

Conclusions:

• Skin manifestations, such as café-au-lait macules and freckling, are often the initial signs of NF1.
• Updating the National Institutes of Health diagnostic criteria for NF1 may enhance early detection in pediatric populations.