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Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis

18 Years
90 Years
Open (Enrolling)
Hereditary Neoplastic Syndrome, Tuberous Sclerosis

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Trial Information

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.

Inclusion Criteria


Patients will be those already diagnosed with TSC (definite, probable, or possible) based
on clinical criteria and/or genetic testing, and ranging in age from 18 to 90 years old.

The clinical features of TSC considered of major significance are: facial angiofibromas
or forehead plaque, nontraumatic periungual fibromas, three or more hypomelanotic macules,
shagreen patch, multiple retinal nodular hamartomas, cortical tuber, subependymal nodule,
subependymal giant cell astrocytoma, cardiac rhabdomyoma, lymphangioleiomyomatosis, and
renal angiomyolipoma.

The minor features of TSC are: multiple randomly distributed pits in dental enamel,
hamartomatous rectal polyps, bone cysts, cerebral white matter radial migration lines,
gingival fibromas, nonrenal hamartoma, retinal achromic patch, confetti skin lesions,
and multiple renal cysts (5). Definite TSC is diagnosed by the presence of two major
features or one major feature plus two minor features. Probable TSC is diagnosed by the
presence of one major feature and one minor feature. Possible TSC is diagnosed by the
presence of either one major feature or two or more minor features. Patients will not be
preselected for skin lesions, but about 80% of patients with TSC are expected to have skin


Inability to give informed consent.

Tendency to keloid formation.

Allergy to anesthetics.

Bleeding abnormality.

Type of Study:


Study Design:


Principal Investigator

Joel Moss, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Heart, Lung, and Blood Institute (NHLBI)


United States: Federal Government

Study ID:




Start Date:

January 2000

Completion Date:

Related Keywords:

  • Hereditary Neoplastic Syndrome
  • Tuberous Sclerosis
  • Skin Biopsy
  • Familial Tumor Syndrome
  • Cell Growth
  • Loss of Heterozygosity
  • Cytokines
  • Tuberous Sclerosis
  • Neoplasms
  • Neoplastic Syndromes, Hereditary
  • Sclerosis
  • Tuberous Sclerosis



National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda, Maryland  20892
United States Uniformed Health Service Bethesda, Maryland  20889