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Editorial |

Diagnostic and Management Considerations Posed by Multiple Café au Lait Spots

Vincent M. Riccardi, MD
Arch Dermatol. 2009;145(8):929-930. doi:10.1001/archdermatol.2009.180.
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Neurofibromatosis type 1 (NF1) is potentially a very serious disease. A cardinal feature of NF1 is the patchy hyperpigmentation of the skin variously known as café au lait macules (CALMs) or café au lait spots (CLSs). In this issue of the Archives, Nunley and coworkers1 document unequivocally that 6 or more CLSs, as the sole clinical finding, are especially useful for alerting clinicians to the ultimate diagnosis of NF1. That is, as the title of their article indicates, CLSs can be predictive of the diagnosis of NF1. The purpose of this editorial is to emphasize this conclusion and to discuss 2 further considerations: (1) NF1 CLSs in no way predict the nature and severity of the disorder once it fully manifests; and (2) CLSs overlapping in nature, number, and distribution with NF1 may indicate an alternative disorder. That is, clinicians must deal with both the heterogeneity of the clinical course of NF1 once its presence is confirmed and the heterogeneity of the final diagnoses among the referrals to an NF clinic.

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