Please help me, doctor?
Hello Doctor, when I was in the third or fourth grade, I developed a few small spots under my right armpit.
At that time, I often practiced dancing at school and was frequently exposed to the sun while waving a fan.
I also developed a large mole in the same area, which has not changed in number or size since then, and I am now 34 years old.
Around the age of 25, I was very enthusiastic about exfoliating massages and often used brushes and exfoliating tools vigorously.
Later, I remember my side becoming red, so I stopped using those methods, but it seems that shallow brown spots appeared afterward.
Recently, I used a treatment for sweat spots on my side, and it seems to have faded a bit.
During my pregnancy two years ago, the spots did not change or increase in number.
I accidentally came across a mom's website where someone mentioned café au lait spots, and I became very worried.
I consulted four or five doctors (in clinics or medium-sized hospitals), and some said that the spots under my armpit and on my hip are remnants of sweat spots.
Others mentioned that they resemble café au lait spots but said it’s not a concern (stating that it’s just a common birthmark that many people have).
Every doctor assured me that I do not have neurofibromatosis.
I would like to know if neurofibromatosis typically presents with spots that appear early in life, and should I be worried? Additionally, I undergo annual fundus examinations and visual field tests, and the doctors have reported no abnormalities.
Last year, I also had a brain CT scan due to sinus issues, and nothing unusual was found.
I do not have any small nodules or other spots.
If I want to have a second child, would I need to undergo genetic testing? Thank you, Doctor.
Dan Dan, 30~39 year old female. Ask Date: 2018/10/31
Dr. Xiao Kaiwen reply Pediatrics
The diagnosis of neurofibromatosis is not solely based on the presence of café-au-lait spots; there are specific diagnostic criteria that must be met.
Additionally, there must be more than six café-au-lait spots, and their sizes have certain limitations: before puberty, they must be larger than 5 mm, and after puberty, they must be larger than 15 mm (these spots do not necessarily appear at birth or very early on).
According to the diagnostic criteria, at least two out of seven points must be satisfied.
These standards require evaluation by an experienced physician and may involve instrumental examinations, so it is advisable to consult a specialist in neurology.
Therefore, if you do not meet the diagnostic criteria for neurofibromatosis, there is no need for prenatal genetic testing.
Reply Date: 2018/10/31
More Info
When it comes to understanding skin spots in children, especially in the context of your concerns regarding your own experiences and potential hereditary conditions, it is essential to approach the topic with a clear understanding of the various types of skin lesions and the appropriate times to seek medical advice.
Firstly, skin spots can manifest in various forms, including moles, freckles, and other pigmented lesions. In children, these spots can be benign and often result from sun exposure, genetic predisposition, or other environmental factors. For instance, the "café au lait" spots you mentioned are typically harmless and are common in many individuals. They are usually light brown and can vary in size. While having a few of these spots is generally not a cause for concern, the presence of multiple café au lait spots can sometimes be associated with neurofibromatosis, a genetic disorder that can lead to the development of tumors on nerves. However, as you noted, most doctors have reassured you that your spots do not indicate this condition, which is a positive sign.
In your case, the spots that developed under your arms and on your waist after sun exposure and vigorous scrubbing may be post-inflammatory hyperpigmentation or remnants of previous skin irritation. These can occur when the skin is subjected to trauma or irritation, leading to increased melanin production in the affected areas. It is crucial to avoid aggressive scrubbing or exfoliation, as this can exacerbate the condition and lead to further discoloration.
Regarding your concerns about the potential for neurofibromatosis, it is important to note that this condition typically presents with multiple café au lait spots, freckling in the armpits or groin, and other specific skin findings. The fact that you have been evaluated by multiple healthcare professionals who have not found any concerning signs is reassuring. Additionally, regular eye examinations and imaging studies, such as CT scans, that have returned normal results further support the absence of significant underlying issues.
If you are considering having another child, genetic counseling may be beneficial, especially if you have concerns about hereditary conditions. Genetic counselors can provide information about the likelihood of passing on certain traits or conditions to your offspring and can guide you through the process of genetic testing if deemed necessary.
In summary, while it is natural to be concerned about skin changes, especially in the context of family history and personal experiences, the majority of benign skin spots in children do not require intervention. However, you should seek medical advice if you notice any changes in size, shape, color, or if the spots become symptomatic (itchy, painful, or bleeding). Regular check-ups with a dermatologist can help monitor any skin changes over time. If you have any further concerns or if new symptoms arise, do not hesitate to consult with a healthcare professional for personalized advice and reassurance.
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