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Having neourofibromatosis. Having tumours on head, skin discolouration. Should I be concerned?

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General & Family Physician
Practicing since : 2004
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hi dr XXXXXXX my name is XXXXXXX my mother and her sister have neourofibromatosis l have the tumors on my head also skin dicoloration it darkens ln the summer my cousin broke her hip due to this l have had concerns for along time l have been telling my doctor about this also about the pain with my hip l have had for while i have concerns also questions I would like to hear from you thank you XXXXXXX .
Posted Sun, 11 Aug 2013 in Brain and Spine
Answered by Dr. Chakravarthy Mazumdar 41 minutes later

Thank you for the query here. I read the query with diligence. I would like to understand your concerns first and try to answer each of them one by one.

As understood by you there are certain skeletal abnormalities in Neurofibromatosis Type 1 (NF -1). However most of the them present during childhood or adolescence. It would be good for you to confirm the cause of the hip fracture for your cousin.
The most typical problem reported are pseudoarthrosis of hip joint, bowing of the thigh and calf bones. The other is scoliosis that is also reported much early. There are hardly any bone problems reported at 51 yrs of age. In such a case the hip pain can be evaluated with Xray of the Hip joint for other reasons like Osteoarthritis (as mentioned in the history).

I still suggest you to XXXXXXX an Orthopedic Surgeon directly and screen for Skeletal involvement, including scoliosis (spine bent), hemihypertrophy, or long-bone modeling defects(bowing of the bones).

Please remember that the routine examinations include eye and skin. Please follow your doctor for these routine screening.

Let me know if I had not addressed any other query.

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