Common "Neurofibromatosis" queries answered by top doctors | iCliniq

Neurofibromatosis

Neurofibromatosis are a group of disorders that lead to the formation of tumors in the brain, spinal cord, and nerve tissues. It is a genetic disorder that is noncancerous and occurs in three types. The first type causes bone deformities, the second type causes hearing impairment, and the third type causes extreme pain throughout the body. In rare cases, neurofibromatosis can become cancerous.

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All the answers published in this website are written by verified medical doctors, therapists and health experts. The Content has been moderated by iCliniq medical review team before publication. Post your medical clarifications on iCliniq by choosing the right specialty and get them answered. Your medical queries will be answered 24/7 by top doctors from iCliniq.

Please tell me about the effectiveness of Koselugo for NF1.

Query: Hello doctor, I want to know the effectiveness of Koselugo for NF1. Is it effective for all cases, or are there few specific recommendations? Are there any specific side effects of this medication? Please help.  Read Full »


Dr. Albana Greca

Answer: Hello, Welcome to icliniq.com. I went through your query. Koselugo (Selumetinib) is a medication approved for the treatment of neurofibromatosis type 1 (NF1) in pediatric patients who have symptomatic, inoperable plexiform neurofibromas (PN). NF1 is a genetic disorder that causes tumors to form o...  Read Full »

My nephew is on Koselugo for NF1. What are its side effects?

Query: Hi doctor, My nephew is on Koselugo for NF1 ((neurofibromatosis), and I am concerned about potential side effects. Can you please explain what side effects are possible with this medication? How severe are they, and are there any specific signs we should watch out for? Ensuring his safety during thi...  Read Full »


Dr. Sugreev Singh

Answer: Hi,Welcome to icliniq.I am glad you chose icliniq for your medical-related queries.I understand your concern and will try to help you with it.NF1 (neurofibromatosis) is a gene that can either be mutated or inherited from birth. If your nephew has NF1, Koselugo is a suitable drug for treatment. Fortu...  Read Full »

Why is my baby's tibia bone swollen?

Query: Hi doctor,My 8-month-old baby boy has swelling in the tibia bone. He does not have any pain or irritation over the swelling. He started standing by his 6 months onwards. What is the reason for this swelling?  Read Full »


Dr. Berry Chirag Ashok

Answer: Hi, Welcome to icliniq.com. It looks like your child has a painless bump on the tibia or leg. Can you describe where exactly you see this swelling or bump, either upper, mid, or lower tibia? Has this been evaluated by a doctor with X-rays? There can be numerous causes for such swelling. My most co...  Read Full »

I have NF1 with a small cluster of tumors that are itching badly. Please help.

Query: Hello doctor, I have NF1, and I have had a small cluster of tumors come up. They are also itching badly. Is that normal?  Read Full »


Dr. J. Mariano Anto Bruno Mascarenhas

Answer: Hi, Welcome to icliniq.com. I read your query and can understand your concern. What you enquired for is normal for NF1 (neurofibromatosis type 1). Best wishes for a speedy recovery. Let me know if I can assist you further. Take care.   Read Full »

There are lumps at segmented levels with back pain. Can it be due to cancer?

Query: Hi doctor,I saw a sports injury doctor with mid back pain at night. The first MRI scan was poor quality, so a second was carried out, and that noted elliptical bilateral lumps at segmented levels. I have been referred to a neurologist who is examining the scans. I am seeking clarification that th...  Read Full »


Dr. Chitrangada Jitendra

Answer: Hi, Welcome to icliniq.com. Your MRI report (attachment removed to protect patient identity) indicates neurofibromas in your dorsal spine, which is a benign growth originating from nerve sheath cells. Often it is symptomless, but at times can give discomfort to the patient due to mass effect and pre...  Read Full »

My brother's tumor was resected and sent for molecular testing. Can you interpret the results?

Query: Hello doctor, A tumor was resected and sent for molecular testing. The results came back, and these were the findings: The following mutations were detected in the tumor: Mutation VAF or Copy- No. BRIP1 Y748* 46 %. NF2 c. 448-1G>A 58 % . What does this result mean?  Read Full »


Dr. Seyedaidin Sajedi

Answer: Hello, Welcome to icliniq.com. As you did not describe the location, imaging, and patient history, it is very difficult for a clinician like me to give you a quality consult. Nevertheless, the NF2 mutation that you mentioned in your note is the famous mutation that is seen in neurofibromatosis ty...  Read Full »

Can cafe-au-lait spots cause neurofibromatosis?

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 neurofib...  Read Full »


Dr. Mahmoud Ahmed Abdelrahman Abouibrahim

Answer: 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. Plea...  Read Full »

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