Talk:Peutz-Jeghers syndrome

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Priority 6

Hello Oldman,

I'm wondering about your last addition ...

"Unfortunately most of the data regarding this disorder are from selected family lines."

I'm asking out of ignorance; is the 'unfortunate' nature of this due to there being few examples and, therefore, an incomplete look at the complexity of the disorder; or it is a matter of there are likely more examples that are misdiagnosed and only those cases that present particular previously described symptomologies are likely to be pursued as further examples? One of the reasons why I ask is that there are many other diseases that fall into the 'only described as case studies' category.

Thanks for educating me a bit on this.

Courtland 2005-01-31 USA ~19:00 EST

most the data regarding the outcomes of the disease follow family lines. this means that they may be more severe cases than would be found when studying the "average" pjs patient. at least 50% of all pjs patients are due to sporadic mutations in their DNA at conception. the outcomes for these patients is less clear, but they will have an increased risk of developing cancer.

oldman 2005-03-28