Café-au-Lait Spots: Concerns About Neurofibromatosis Type 1

Café au lait spots

Hello Director Wu,
I have a large café-au-lait spot on my right buttock, about the size of my palm, and there are also two spots on my back larger than 1.5 cm.
I have some areas under my armpits that I’m unsure if they are café-au-lait spots or sweat spots, but they are not very smooth, and scrubbing them with a loofah can cause some skin irritation.
The café-au-lait spot on my buttock seems to have been there since childhood, and it has grown larger as I have.
I am a bit concerned that it might be related to neurofibromatosis because I have felt many small hard nodules under the skin in my abdomen, each about 3 to 5 mm thick, with some arranged in a linear pattern.
They do not protrude from the skin, so they are not visible, but I can clearly feel the nodules when I pinch the skin, which seem to be located in the fat layer.
When I previously visited a surgeon, they assessed the nodules as being caused by fasciitis, but I did not mention my café-au-lait spots at that time, so no further evaluation or treatment was done for the nodules.
I would like to ask if neurofibromas can develop in subcutaneous areas that are not visible to the naked eye? I have been experiencing discomfort in my abdomen for the past 7 to 8 months, and it has been diagnosed as functional dyspepsia.
However, no medication seems to help.
I was previously very healthy with a good appetite, but now my appetite is poor, and I have lost weight, currently weighing 172 lbs at 57 kg, down from 172 lbs at 61-62 kg.
After eating, I feel a specific area around my navel is very blocked, as if food is stuck there and cannot go down, which is extremely uncomfortable.
I can also feel a mass in my abdomen, but the gastroenterologist said it was just muscle tissue.
However, an ultrasound of the muscles showed no inflammation or strain, and I haven’t engaged in any activities that would exert my abdominal muscles.
The pain in my abdomen does not feel like muscle pain; it is more like a deep, dull ache, similar to the pain of a bruise when pressure is applied.
I have undergone gastroscopy, colonoscopy, and abdominal CT scans, which found benign polyps in both the stomach and colon (the colon has tubular adenoma polyps, and I am indeed worried to have such polyps at my young age that have potential for malignancy).
The abdominal CT did not reveal any significant lesions, but I am concerned that if I have type 1 neurofibromatosis, there might be neurofibromas in the small intestine that are not visible on the CT scan, as the small intestine appears as clumps on the scan and is not very clear without barium contrast.
I would like to ask:
1.
Could the multiple small hard nodules I feel in my abdomen be neurofibromas?
2.
I have read that having six or more café-au-lait spots is one of the criteria for type 1 neurofibromatosis, but I have a large one on my right buttock (about the size of a palm); does this count as just one?
3.
Which specialty should I consult to check for type 1 neurofibromatosis? Should I see a neurologist, neurosurgeon, or dermatologist?
Thank you for your response, Director Wu.
Wishing you peace and joy.

A-Lin, 20~29 year old female. Ask Date: 2016/10/30

Dr. Wu Yuxin reply Dermatology

1.
Highly likely
2.
Count as one
3.
You can first consult a dermatologist for confirmation.

Reply Date: 2016/10/30

More Info

Café-au-lait spots (CAL spots) are pigmented skin lesions that can be associated with several conditions, most notably Neurofibromatosis Type 1 (NF1). Your concerns regarding the presence of these spots and the associated symptoms you are experiencing warrant a thorough evaluation. Let’s address your questions and provide some context regarding NF1 and its implications.

1. Could the multiple small hard nodules in my abdomen be neurofibromas?
Neurofibromas are benign tumors that arise from nerve tissue and are commonly associated with NF1. They can occur anywhere in the body, including subcutaneously (beneath the skin) and in deeper tissues. While many neurofibromas are superficial and can be felt or seen, some can be deeper and may not be easily detectable without imaging studies. The nodules you are feeling could potentially be neurofibromas, especially if you have other features of NF1. However, they could also be other benign conditions, such as lipomas or fibromas. A thorough examination by a specialist is necessary to determine their nature.

2. Regarding the café-au-lait spots: Is one large spot equivalent to multiple spots?
The diagnostic criteria for NF1 include the presence of six or more café-au-lait spots, each larger than 5 mm in prepubertal individuals or 15 mm in postpubertal individuals. The large spot on your right hip, while significant, would typically count as one spot. Therefore, if you have only one large spot and a couple of smaller ones, you may not meet the criteria for NF1 based solely on the number of CAL spots. However, the size and number of spots, along with other clinical features, are considered in the overall assessment.

3. Which specialty should I consult to check for Neurofibromatosis Type 1?
Given your concerns about NF1, it would be advisable to start with a consultation with a dermatologist, as they can evaluate your skin lesions and assess the café-au-lait spots. If there is a suspicion of NF1 based on your skin findings and any other symptoms, they may refer you to a geneticist or a neurologist for further evaluation. A geneticist can provide insights into the hereditary aspects of NF1 and may recommend genetic testing if appropriate. A neurologist can evaluate any neurological symptoms you may have, especially if you have concerns about deeper neurofibromas or other neurological manifestations.

In addition to the above, your gastrointestinal symptoms, including the feeling of obstruction and the presence of polyps, should be evaluated separately. The fact that you have been experiencing these symptoms for several months, along with weight loss, is concerning and should be addressed by a gastroenterologist. They can perform further investigations to rule out any serious underlying conditions.

In summary, while your café-au-lait spots and abdominal nodules raise valid concerns regarding NF1, a comprehensive evaluation by the appropriate specialists is essential. They will consider your entire clinical picture, including your symptoms, family history, and physical examination findings, to arrive at a diagnosis and recommend any necessary follow-up or treatment. It is crucial to address both your dermatological concerns and your gastrointestinal symptoms to ensure a holistic approach to your health.

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