Dr. Mahmoud Ahmed Abdelrahman Abouibrahim
Internal Medicine
The following is an actual conversation between an iCliniq user and a doctor that has been reviewed and published as a Premium Q&A.
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Patient's Query
Hi doctor,
I have noticed three to five cafe-au-lait spots in my body in which three of them are confirmed, the other two were light and was not examined by my dermatologist. I do not have enough spots to be diagnosed with neurofibromatosis 1, but I was scared that I could be affected with neurofibromatosis 2 later. I have permanent tinnitus, but neuromas were ruled out, which was cleared on seeing a clear brain MRI. I have no tumor in my brain or any other signs except these spots. Should I expect these tumors to appear in the following years, or there is any possibility to have these spots as a benign symptom? I have no cutaneous schwannomas. My aunt on my maternal side has them. I may also carry a red hair gene, which may make the spots more frequent. Please help me to clear this.
Hi,
Welcome to icliniq.com.
Having some Cafe-au-lait spots is usually a benign phenomenon, that you need not get worried about it. In order to diagnose NF (neurofibromatosis), there are many criteria that you will not meet. Please send me some photos of the spots in order to be fully reassured. Please tell me, if you have any other skin changes. Also, tell me about the average diameter of the spots.
For more information consult an internal medicine physician online --> https://www.icliniq.com/ask-a-doctor-online/internal-medicine-physician
Patient's Query
Thank you doctor,
Actually, the three confirmed ones are on the right side of my body (one on my buttock, over 6 cm and oval in shape, one irregular one that measures around 2 cm on my hip with irregular borders, and another small very pale oval one on my knee between 1 cm and 2 cm, depends if the skin is stretched). There is an irregular line on my left arm that I scrapped out of fear. So, it is not visible anymore, but it looked like a very jagged spot measuring no more than 1 cm (had it since childhood too, not pictured), and the last one I scratched too, whether it is a real CAL spot when it appeared. It looks about 2 cm wide. I will attach pictures. Regarding other skin features, I have a solitary lip lentigo since childhood, mild freckling on the pubic area (mostly on the right also, and not in the inguinal fold). My mother has freckles all over. I also have two freckles under my left armpit, one very light (like a cafe-au-lait macule) and another dark one.
Hi,
Welcome back to icliniq.com.
I have checked the attached photos (attachment removed to protect patient identity) and I have reviewed all the mentioned information. Your CAL spots (Cafe-au-lait spots) do not meet the criteria of NF 1 (neurofibromatosis 1) as it should be more than six. There are no other signs of NF1 like neurofibroma, Lisch nodules, optic glioma or bone lesions. It is important to know if you have any member of your family with NF. CAL is present in 20 % of children below 2 years which is completely normal. Also, you have to know that NF usually shows symptoms and signs early in life before 25 years.
For more information consult an internal medicine physician online --> https://www.icliniq.com/ask-a-doctor-online/internal-medicine-physician
Patient's Query
Thank you doctor,
I was more afraid of being affected with NF type 2 since I had tinnitus and only a few spots. There is no known NF 1 in my family. My mother had spots in her eyes looking like Lisch nodules but, no medical exam mentioned it. So I do not know whether they are real Lisch nodules or freckles. My question is, whether there is any chance that this could be NF 2? I am still scared that I might still get acoustic neuromas. Three to five spots would be in favor of NF 2 or not?
Hi,
Welcome back to icliniq.com.
There is no evidence that you will develop NF 2. Diagnosis of NF 2 includes either bilateral acoustic neuromas or unilateral with a positive family history. Moreover, most of the cases of NF 2 have no CAL spots. In addition to this, NF 2 is autosomal dominant which means that there must be affected generations. So, NF 2 is very unlikely to occur in a negative family history. So you need not get worried about NF 2.
For more information consult an internal medicine physician online --> https://www.icliniq.com/ask-a-doctor-online/internal-medicine-physician
Patient's Query
Thank you doctor,
Do you mean I can stop worrying about this disease? This is true. I tend to be worried more about my health.
Hi,
Welcome back to icliniq.com.
You should stop worrying about the disease as there is no true sign of it. There are mutations that could cause this condition but, actually it is very rare. A negative family history and negative investigation with few CAL spots that are found in many normal populations, all these clues are pointing towards that you are very unlikely to have NF 2.
For more information consult an internal medicine physician online --> https://www.icliniq.com/ask-a-doctor-online/internal-medicine-physician
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