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August 23, 2007


Question from Macon, Missouri, USA:

I contacted you all several years ago about our daughter who has scleroderma in the form of PSS, which is not classic but IS aggressive; insulin resistance/acanthosis nigricans; and very severe bone dysplasia. Now 17, my daughter's hands/feet are the size of a 12-month-old. They have fused and she is clearly getting worse. Right now, my daughter has not had any medical treatment because I believe nobody has crafted/tailed medicines/treatments of insulin resistance/scleroderma/bone dysplasias to those variants of genes --- of key genes that have been exerted/stimulated/"turned on." To summarize, I had breast implants because of a congenital deformity of my chest wall, which later led to a complete mastectomy. Since then, I have been researching silicone and breast implants proteins/protein excesses, genetics--the variants of genes/of key genes that may be elevated/stimulated/exerted, the time factor of exposure to this genetically offending trigger--the chemical adjuvancy of my extremely failed breast implants...you know, like a "two hit" theory. My mother and grandmother both died from multiple myeloma and I had exposed all my daughters to my silicone implants. My daughter with the insulin resistance participated in a study in which we learned all of us have the multiple sclerosis (MS) gene, which I now have and suspect my daughter has. She may have an elevated osteopontin level because of the MS. This protein has been linked to other autoimmune diseases, such as rheumatoid arthritis and lupus. So, is acanthosis nigricans/insulin resistance always classic? Are there ever insulin resistance-like acanthosis nigricans-like syndromes? And, has anyone ever done any studies on osteopontin-blood plasma levels in patients with insulin resistance/acanthosis nigricans?


The family situation you describe is most complex, so I do not know if I can provide any specific answers. I suspect that the research has not likely caught up with the disorder(s). The simple answer to your question is that there are full-fledged insulin resistance syndromes which are quite rare, then there are more common ones mostly related to obesity and type 2 diabetes. Most people with type 2 diabetes would respond to weight loss, increased activity and then blood glucose would be improved, i.e., better control, under such circumstances. Some of the medications used for type 2 diabetes such as metformin and the glitazone classes would also help with this insulin resistance. There are also other partial insulin resistance syndromes and some which are mediated by certain medications (i.e., cortisone-like medications).

So, whether or not there are specific genetic factors (likely even if not all known and elucidated yet) and then certain “environmental” triggers (such as silicone exposure, viruses, other chemicals, etc.), these are all just being researched without definitive answers.

Either way, I would ask your genetics team to consult with the diabetes team at St. Louis Children’s since they would then be able to work together to help decide what, if anything, is the next step.