Study of Skin Tumors in Tuberous Sclerosis

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Jan 20, 2000

Keywords

ClinConnect Summary

This clinical trial is studying skin tumors in people with tuberous sclerosis, a rare inherited condition that causes non-cancerous tumors to grow in various organs, including the skin. The researchers want to understand why these skin tumors develop and how they are influenced by genetic changes and other factors. Adults aged 18 to 90 who have been diagnosed with tuberous sclerosis may be eligible to participate in this study.

Participants will have a detailed medical history taken and will undergo a thorough skin examination by a skin specialist. If they have skin tumors, they will be asked to have small tissue samples taken from up to eight of these tumors using a local anesthetic. This means they will be awake but won’t feel pain in the area where the tissue is removed. The samples will be analyzed to learn more about the genetic and protein changes related to tuberous sclerosis. It’s important to note that while the study is open to all eligible adults, those who have trouble providing consent, have keloid scars, or are allergic to anesthetics will not be able to join.

Gender

ALL

Eligibility criteria

• * 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.

Trial Officials