Protocol Number: 00-H-0051

Title:

Cutaneous Tumorigenesis in Patients with Tuberous Sclerosis

Number:

00-H-0051

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 sclerosis.

Sponsoring Institute:

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): Children

Eligibility Criteria:

INCLUSION CRITERIA:

Patients will be those already diagnosed with TSC based on clinical criteria and/or genetic testing.

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.

EXCLUSION CRITERIA:

Inability to give informed consent.

Tendency to keloid formation.

Allergy to anesthetics.

Bleeding abnormality.

Special Instructions:

Currently Not Provided

Keywords:

Skin Biopsy

Familial Tumor Syndrome

Cell Growth

Loss of Heterozygosity

Cytokines

Recruitment Keyword(s):

Tuberous Sclerosis

Condition(s):

Hereditary Neoplastic Syndrome

Tuberous Sclerosis

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Heart, Lung and Blood Institute

Contact(s):

Mary Haughey, R.N.
National Institutes of Health
Building 10
Room 6D03
10 Center Drive
Bethesda, Maryland 20892
Phone: (301) 496-3632
Fax: Not Listed
Electronic Address: mhaughey@nhlbi.nih.gov

Citation(s):

Tuberous sclerosis

The tuberous sclerosis complex: a comprehensive review

The cutaneous features of tuberous sclerosis: a population study

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