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Protocol Details

Cutaneous Tumorigenesis in Patients with Tuberous Sclerosis

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

00-H-0051

Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18 Years
Max Age: 90 Years

Referral Letter Required

No

Population Exclusion(s)

Children

Keywords

Skin Biopsy;
Familial Tumor Syndrome;
Cell Growth;
Loss of Heterozygosity;
Cytokines;
Natural History

Recruitment Keyword(s)

Tuberous Sclerosis

Condition(s)

Tuberous Sclerosis

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Heart, Lung, and Blood InstituteUnited States Uniformed Health Service

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.

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Eligibility

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 lesions.

EXCLUSION CRITERIA:

Inability to give informed consent.

Tendency to keloid formation.

Allergy to anesthetics.

Bleeding abnormality.


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Citations:

Tuberous sclerosis

The tuberous sclerosis complex: a comprehensive review

The cutaneous features of tuberous sclerosis: a population study

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Contacts:

Principal Investigator

Referral Contact

For more information:

Joel Moss, M.D.
National Heart, Lung and Blood Institute (NHLBI)
NIHBC 10 - CLINICAL CENTER BG RM 6D03
10 CENTER DR
BETHESDA MD 20892
(301) 496-1597
mossj@nhlbi.nih.gov

Tatyana Worthy, R.N.
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 3-3485
10 Center Drive
Bethesda, Maryland 20892
(301) 827-1376
worthyt@mail.nih.gov

Mary Haughey, R.N.
National Institutes of Health
Building 10
Room 6D03
10 Center Drive
Bethesda, Maryland 20892
(301) 496-3632
mhaughey@nhlbi.nih.gov

Clinical Trials Number:

NCT00001975

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