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Neurofibromatosis Type 1 — RACP Paediatrics MCQ

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ModerateDermatologyNeurofibromatosis Type 1RACP Paediatrics

A 6-year-old boy presents with 6 café-au-lait macules (each >5 mm), axillary freckling, and a plexiform neurofibroma on his left arm. His mother has similar skin findings. What criteria does this child meet for diagnosis?

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Correct answer: D — Neurofibromatosis type 1 (NF1) diagnostic criteria

NF1 is diagnosed when ≥2 of the following criteria are met: ≥6 café-au-lait macules (>5 mm pre-pubertal, >15 mm post-pubertal), ≥2 neurofibromas or 1 plexiform neurofibroma, axillary/inguinal freckling, optic pathway glioma, ≥2 Lisch nodules, distinctive osseous lesion, or a first-degree relative with NF1. This child meets at least 3 criteria. NF1 is autosomal dominant.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Neurofibromatosis Type 1