Café-au-lait Spots in Neurofibromatosis Type 2
Café-au-lait macules are uncommon in NF2, occurring in only approximately 1% of patients at levels meeting NF1 diagnostic criteria, though they may be slightly more frequent than in the general population. 1
Key Clinical Distinction from NF1
The presence or absence of café-au-lait spots is a critical distinguishing feature between the two neurofibromatosis types:
- NF1 patients characteristically present with multiple café-au-lait macules as typically the initial clinical manifestation, which increase in size and number throughout childhood and puberty 2
- NF2 patients rarely have significant café-au-lait macules, with only around 1% meeting NIH criteria for NF1 based on café-au-lait patch numbers 1
- When café-au-lait patches do occur in NF2, they are more frequent than in the general population but remain a minor feature 1
Predominant Cutaneous Features in NF2
The cutaneous manifestations of NF2 are distinctly different from NF1 and can be quite subtle:
- Approximately 70% of NF2 patients have intracutaneous plaque-like schwannomas or subcutaneous lesions on peripheral nerves 1
- These schwannomas, not café-au-lait spots, represent the primary skin findings 1
Clinical Pitfall to Avoid
When evaluating children with skin lesions and tumors, clinicians should suspect NF2 in those presenting with meningioma, schwannoma, and skin features such as neurofibromas/schwannomas but fewer than 6 café-au-lait patches - these patients fall short of NF1 diagnosis but may have NF2 3. This is particularly important because more than half of pediatric NF2 presentations have no family history to alert the clinician 3.
Diagnostic Focus for NF2
Rather than looking for café-au-lait spots, the hallmark diagnostic feature of NF2 is bilateral vestibular schwannomas on the eighth cranial nerves 4, 5, or alternatively a unilateral vestibular schwannoma plus at least two other NF2-related tumors 4, 5. Multiple meningiomas and ependymomas are also common features 6, 5.