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Study of Skin Tumors in Tuberous Sclerosis

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 7, 2017 by National Institutes of Health Clinical Center (CC)
Uniformed Services University of the Health Sciences
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ) Identifier:
First received: January 20, 2000
Last updated: April 20, 2017
Last verified: April 7, 2017

Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with serious medical consequences. The severity of disease varies greatly among patients, from barely detectable to fatal. This study will investigate what causes skin tumors to develop in patients with this disease.

Patients with tuberous sclerosis 18 years and older may enroll in this study. Participants will undergo a medical history and thorough skin examination by a dermatologist. Those with skin tumors will be asked to undergo biopsy (tissue removal) of up to eight lesions, under a local anesthetic, for research purposes. The biopsies will all be done the same day. The tissue samples will be used for: examination of genetic changes, measurement of certain proteins and other substances, and growing in culture to study the genetics of tuberous sclerosis.

Hereditary Neoplastic Syndrome
Tuberous Sclerosis

Study Type: Observational
Official Title: Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 130
Study Start Date: January 18, 2000
Detailed Description:
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.

Ages Eligible for Study:   18 Years to 90 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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 lesions.


Inability to give informed consent.

Tendency to keloid formation.

Allergy to anesthetics.

Bleeding abnormality.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00001975

Contact: Tania R Machado (301) 496-3632
Contact: Joel Moss, M.D. (301) 496-1597

United States, Maryland
United States Uniformed Health Service Recruiting
Bethesda, Maryland, United States, 20889
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: Mary Haughey    301-496-3632   
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Uniformed Services University of the Health Sciences
Principal Investigator: Joel Moss, M.D. National Heart, Lung, and Blood Institute (NHLBI)
  More Information

Additional Information:
Responsible Party: National Heart, Lung, and Blood Institute (NHLBI) Identifier: NCT00001975     History of Changes
Other Study ID Numbers: 000051
Study First Received: January 20, 2000
Last Updated: April 20, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Skin Biopsy
Familial Tumor Syndrome
Cell Growth
Loss of Heterozygosity
Tuberous Sclerosis

Additional relevant MeSH terms:
Tuberous Sclerosis
Neoplastic Syndromes, Hereditary
Pathologic Processes
Neoplasms, Multiple Primary
Malformations of Cortical Development, Group I
Malformations of Cortical Development
Nervous System Malformations
Nervous System Diseases
Neurocutaneous Syndromes
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Congenital Abnormalities
Genetic Diseases, Inborn processed this record on May 25, 2017