Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature

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• 作者：Anne Bernier ; MD ; MSc ; Albert Larbrisseau ; MD ; Sebastien Perreault ; MD ; MSc ; ^{s.perreault@umontreal.ca" class="auth_mail" title="E-mail the corresponding author}
• 关键词：neurofibromatosis type 1 ; Recklinghausen disease ; café ; -au-lait macules ; children ; clinical diagnosis ; genetic testing
• 刊名：Pediatric Neurology
• 出版年：2016
• 出版时间：July 2016
• 年：2016
• 卷：60
• 期：Complete
• 页码：24-29.e1
• 全文大小：875 K

文摘

The first sign of neurofibromatosis type 1 (NF1) in a child is often the presence of multiple café-au-lait macules. Although previous studies reported that almost individuals with multiple café-au-lait macules will eventually develop NF1 based on clinical criteria, recent studies and clinical observations suggest that a significant percentage of them do not have NF1.

Methods

We conducted the first systematic review of the literature on the prevalence of definitive NF1 among patients referred for isolated café-au-lait macules, searching more precisely for the proportion of those patients who do not have NF1. Because we now know that the presence of café-au-lait macules and freckling might not distinguish between NF1 and other conditions such as Legius syndrome, definitive NF1 was defined as the presence of café-au-lait macules with or without freckling plus one of the following: Lisch nodules, neurofibroma, plexiform neurofibroma, bone dysplasia, optic pathway glioma, or familial history of NF1.

Results

Six articles reported sufficient data to meet our inclusion criteria. Grouping all studies together, we found that 19.5% to 57.1% of all patients with isolated café-au-lait macules did not have a diagnosis of NF1 after follow-up or genetic testing.

Conclusion

A significant portion of the patients presenting with isolated café-au-lait macules at initial consultation might not have NF1. Genetic testing could help guide the follow-up of those patients, but further evidence is required to make recommendations.