On an almost daily basis, I receive e-mails from people in all parts of the U.S. and other countries asking clinical questions about NF. Most of the time, individuals who e-mail me have run across my name on social networking sites, such as a discussion board or a chat room devoted to the topic of NF. There is a robust network of NF-related discussion forums on the Internet, and they can serve as a valuable resource for patients and families in locating specialists who can provide a definitive diagnosis and treatment plan. In this blog, I’d like to address the general principles I follow in replying to patients’ questions via e-mail.
Because most of the people who contact me have questions about clinical features that might indicate NF – or they have already received a diagnosis and need a plan of treatment – my primary goal is to connect them with a qualified specialist in their area whenever possible, and I always stress in my response the importance of identifying a trusted clinician in the region. Fortunately, specialists can be found relatively easily in most major U.S. cities. For patients and families seeking assistance in locating a specialist, the Children’s Tumor Foundation (www.ctf.org) web site features a patient information tab that provides a list of specialists within the U.S.
However, finding a qualified NF specialist often can be challenging, especially for people in other countries. In many regions of the U.S., and in many other countries, there is not ready access to NF specialists, and some physicians with the clinical knowledge to make an NF diagnosis may lack experience in managing complications and developing a treatment plan. For these reasons, NF-related discussion boards and chat rooms have proven to be a valuable resource for patients and families seeking information and guidance.
Because I understand the importance of helping people gain access to accurate information about NF, I’m always glad to respond to any e-mailed questions I receive and consider it a privilege to communicate with patients who have NF-related concerns. However, I can’t provide specific medical advice to people whom I have not personally examined and whose records I have not reviewed. Many people who e-mail me often attach photos, for example of café-au-lait spots, usually taken with a cell phone. Most of these photos are difficult to interpret, and it’s important not to give advice based on the limited information provided in an e-mail or photo. Instead, I focus on providing general information about NF that is not specific to their situation – perhaps about the value of genetic testing or a review of different treatment approaches.
Regarding the numerous e-mailed questions I receive asking if a child with café-au-lait spots has NF, the majority describe children in whom a diagnosis of NF is not obvious. Parents of these children are usually distraught about the possibility of NF based on the presence café-au-lait spots, which may have been noticed by a pediatrician or other clinician. Frequently, I have the impression that most are healthy children with a few spots that don’t fulfill the diagnostic criteria requiring six or more café-au-lait spots. It is important to note that the vast majority of people with NF1 have this number of café-au-lait spots or more. Sometimes, infants can develop café-au-lait spots, but café-au-lait spots usually begin to appear in the first few weeks of life. By two years of age, a child with NF will have at least six café-au-lait spots, if they ever will. It’s important to note that a young child with six or more café-au-lait spots that are clear usually will have NF1 that can be confirmed with genetic testing. In my clinical experience, many children with between one and three spots usually don’t have NF.
There are some people with variant forms of NF who have fewer than six café-au-lait spots. Some of these individuals develop internal neurofibromas, but have few visible on the skin. Legius Syndrome is another condition that causes café-au-lait spots, although these individuals do not develop tumors; this is a benign condition that is much more rare than NF1, and genetic testing is required to confirm it. Also, there are other conditions that can produce café-au-lait spots, though most are rare. It should also be noted that some healthy people can have up to six spots with no other symptoms.
Freckling in the groin and under the arms is another feature used to confirm an NF1 diagnosis. While some parents may worry based on the presence of a few small freckles in these regions, it’s important to note that NF-related freckling appears between three and five years of age. Instead of a few tiny freckles in these regions, there are usually many freckles in the region, as if paint were spattered from a paint brush. Also, a café-au-lait spot that happens to appear under the arm or in the groin does not count as a skin fold freckle.
Because NF-related features such as café-au-lait spots and groin and underarm freckling are sometimes over-interpreted and often a source of unnecessary anxiety, it’s important to identify an experienced clinician who can make a recommendation about diagnosis and the use of genetic testing for NF based on the presence of specific clinical criteria. My continued objective in responding to e-mailed questions is to provide patients with accurate information about NF and assist them in identifying an experienced, trusted clinician who can provide additional information and guidance.