Study of Skin Tumors in Tuberous Sclerosis

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Brief Title

Study of Skin Tumors in Tuberous Sclerosis

Official Title

Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis

Brief Summary

      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


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.

Study Type


Primary Outcome

1.Identify the tumor cells in cutaneous and mucosal tumors in patients with TSC through LOH studies on microdissected cell populations


Tuberous Sclerosis

Study Arms / Comparison Groups

 Group 1
Description:  Patients will be those already diagnosed with TSC (definite or possible)


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

January 26, 2000

Eligibility 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 lesions.


        Inability to give informed consent.

        Tendency to keloid formation.

        Allergy to anesthetics.

        Bleeding abnormality.




18 Years - 90 Years

Accepts Healthy Volunteers



Joel Moss, M.D., (301) 827-1376, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

National Heart, Lung, and Blood Institute (NHLBI)


 Uniformed Services University of the Health Sciences

Study Sponsor

Joel Moss, M.D., Principal Investigator, National Heart, Lung, and Blood Institute (NHLBI)

Verification Date

July 28, 2022