Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis
Patients with tuberous sclerosis develop benign cutaneous tumors that are typically multiple
in number and location. These tumors include facial angiofibromas, forehead plaques,
shagreen patches, periungual fibromas, and gingival fibromas. The tumors are permanent,
slow growing, and often disfiguring. The purpose of this study is to elucidate the
molecular basis for these tumors. Specifically, we plan to identify the genetically altered
cells in these hamartomatous lesions, and to quantify factors (e.g. cytokines) produced by
these cells which induce the growth of these tumors. To accomplish this, we plan to obtain
samples of these cutaneous tumors, to test tumor DNA for loss of heterozygosity, and to
measure RNA and protein expression levels.
Joel Moss, M.D.
National Heart, Lung, and Blood Institute (NHLBI)
United States: Federal Government
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Bethesda, Maryland 20892|
|United States Uniformed Health Service||Bethesda, Maryland 20889|