A 5-year-old presents with multiple 'café-au-lait' macules (>6, each >5 mm), axillary freckling (Crowe's sign), and a soft subcutaneous nodule along a peripheral nerve. The diagnosis is:
- A McCune-Albright syndrome
- B Neurofibromatosis type 2 (NF2)
- C Neurofibromatosis type 1 (NF1) ✓
- D Tuberous sclerosis complex
Correct answer: C. Neurofibromatosis type 1 (NF1)
Explanation
Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is diagnosed by meeting 2 or more NIH criteria: ≥6 café-au-lait macules (>5 mm prepubertal, >15 mm postpubertal), ≥2 neurofibromas or 1 plexiform neurofibroma, axillary/inguinal freckling (Crowe's sign), Lisch nodules (iris hamartomas), optic glioma, distinct osseous lesions, or a first-degree relative with NF1. NF2 presents with bilateral acoustic neuromas. McCune-Albright has irregular 'coast of Maine' café-au-lait spots.
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.