Cutaneous Tumorigenesis in Patients With Tuberous Sclerosis

Inclusion 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.