Tuesday, May 22, 2012

Cobblestoning from Cowden's Disease

Cowden's Disease is an autosomal dominant condition with variable penetrance known for a constellation of disease manifestations, all related to abnormal genetic expression, primarily through multiple hamartomas, which lead to its other name, Multiple Hamartoma Syndrome.

The skin findings include trichilemmomas (you should make sure all pts who have trichilemmomas on biopsy do not have Cowden's), oral cobblestoning, skin papillomas, as well as gut, neurologic and, most important, breast lesions and thyroid lesions.  Both can lead to cancer, with female breast cancer in greater than 75% of patients.

Several of you mentioned gingival hyperplasia, and the distingishing difference between this and gingival hyperplasia is that you will see overgrowth of the gums, particularly at the papillae, for hyperplasia, whereas in the cobblestoned mucosa you merely see papillomatosis without the overgrowth.

For those of you who nailed this: nice work.  It's rare, it's important and this is a pretty good example from which to learn.


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