Café-au-lait Macules and Neurofibromatosis Type 1: A Review of the Literature
| Autor: | Sébastien Perreault, Anne Bernier, Albert Larbrisseau |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Neurofibromatosis 1 03 medical and health sciences 0302 clinical medicine Developmental Neuroscience Plexiform neurofibroma medicine Humans Neurofibroma Neurofibromatosis neoplasms Genetic testing Legius syndrome medicine.diagnostic_test business.industry Cafe-au-Lait Spots medicine.disease eye diseases Cafe-au-lait macules nervous system diseases 030104 developmental biology Neurology Dysplasia Pediatrics Perinatology and Child Health Neurology (clinical) Optic pathway glioma business 030217 neurology & neurosurgery |
| Zdroj: | Pediatric Neurology. 60:24-29.e1 |
| ISSN: | 0887-8994 |
| DOI: | 10.1016/j.pediatrneurol.2016.03.003 |
| Popis: | Background The first sign of neurofibromatosis type 1 (NF1) in a child is often the presence of multiple cafe-au-lait macules. Although previous studies reported that almost individuals with multiple cafe-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 cafe-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 cafe-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 cafe-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 cafe-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 cafe-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. |
| Databáze: | OpenAIRE |
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