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Small lumps on breasts, stomach. Trouble in urination. Diagnosed cystenosis before. Is it spreading?

My son has small lumps in his breasts and now a few on his stomach . They don t itch or hurt and are under the skin. He was diagnosed with cystenosis in his eyes years ago. He is now 28. He also doesn t feel great and is having trouble urinating. Could this be spreading cystenosis or tubers. He had seizures as well. Mostly earlier in life and is not on meds now.
Asked On : Fri, 15 Mar 2013
Answers:  1 Views:  29
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General & Family Physician 's  Response

I will try to explain in simple terms as much as possible.

let me give some more details about the "cystenosis". Its a rare genetic disorder, now cystine is an part of protein (amino acid to be specific ) that is important for body to grow normally, but in the "cystenosis" its not converted in to another stuff which is necessary for changes in bodies function so the cystine gets deposited as a crystals instead of transformed in to a different compound which is important.

Now the common site for deposition of the cystine is cornea (eyes structure), kidney ,muscles and various other organs causing some or other problems. ( for example - if their is a big stone lying in middle of road it will be an obstruction for the moving traffic, right? even thought the road is built by the similar stone underneath the surface, but will cause major havoc for moving traffic) in the same way if the cystine gets deposited in the cornea of eyes- cause vision problems , in kidney causing urine problems.
in short it will be an ongoing process till something is done for it.


To consult a physician and ask him to get (medication ) "cysteamine"

which basically helps to reduce the deposition of cystine in body.

hope it helps, but still try to have the medication/ at least have consult regarding that to your physician

Answered: Sat, 16 Mar 2013
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