OBJECTIVES:
- Identify patients or confirm suspected cases of xeroderma pigmentosum (XP), Cockayne syndrome (CS), XP/CS, or trichothiodystrophy (TTD).
- Document presence or absence of cancers (skin, eye, tongue, or internal) in these patients.
- Document atypical features or unusual environmental exposures of these patients.
- Examine tissue (skin, blood, hair, or buccal swabs) from these patients and their first degree relatives for DNA repair and genetic analysis.
- Identify molecular defects in the DNA repair genes in cells from these patients and correlate the defects with clinical features.
- Follow the clinical course of selected patients.
OUTLINE: Patients are evaluated initially by phone, followed by a complete history and physical exam, including appropriate clinical and laboratory tests.
Tissue (skin, blood, buccal swabs, or hair) is obtained for laboratory studies of the effects of DNA damage, measurement of DNA repair, genetic analysis of DNA, and/or assessment of immunologic abnormalities.
If malignancies are detected during examinations and tissue collections, patients are referred for treatment. Genetic counseling is also available.
Patients are followed annually.
PROJECTED ACCRUAL: A total of 500 patients will be accrued for this study. |