Café-au-lait spots and other features of NF1 are seen in over 100 genetic disorders!
Café-au-lait marks are actually pretty common. Some people have one or a few of these marks without cause for concern. It is when we see multiple café-au-lait marks or see them in conjunction with other symptoms that there may be cause for further investigation.
Legius Syndrome is the condition most commonly confused with NF1 but it is a much rarer condition. It presents with café-au-lait marks and freckling, however, the neurofibromas tumours, Lisch nodules or other complications associated with NF1 are absent in these cases.
Generally, Legius Syndrome is only picked up through genetic testing as it is clinically indistinguishable from NF1.
Some families also have multiple café-au-lait marks without additional signs or symptoms indicative of any condition. For these families no further monitoring is generally required.
Other conditions sometimes confused with the neurofibromatoses (particularly NF1) include:
- McCune-Albright Syndrome
- Noonan Syndrome
- Proteus Syndrome
However, these are only three of many that resemble NF in some way. Therefore, it is important to seek guidance from an experienced medical specialist or clinical geneticist to ensure accurate diagnosis as ongoing management and monitoring for each condition will vary.
For more information about these conditions and the supports available please contact: