Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue (skin, blood, hair, buccal swabs) for laboratory examination of DNA repair and for genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair. Patients will be offered counseling and education for cancer control.

Population

Patients will be sought by contacting professional organizations (such as the American Academy of Dermatology-XP Task Force), lay support groups (such as the XP Society and the Share and Care CS Support Network) or by direct referral.@@@Healthy volunteers or NIH staff will be recruited through the Program for Healthy Volunteers (CRVP@mail.cc.nih.gov), through the Patient Recruitment and Public Liaison Office (prpl@mail.cc.nih.gov), or as a self-referral through the clinicaltrials.gov web site (http://clinicaltrials.gov). Healthy volunteers may also be approached by a member of the LCBG, NCI regarding interest in participating on this protocol.

Brief Title

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

Official Title

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

Brief Summary

Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS <br /> complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has <br /> increased cancer susceptibility. We plan to perform careful clinical examination of selected <br /> patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue <br /> (skin, blood, hair, buccal swabs) for laboratory examination of DNA repair and for genetic <br /> analysis. We hope to be able to correlate these laboratory abnormalities with the clinical <br /> features to better understand the mechanism of cancer prevention by DNA repair. Patients will <br /> be offered counseling and education for cancer control.

Detailed Description

Three rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), and
trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased
cancer susceptibility. We plan to perform careful clinical examination of selected patients
with XP, CS, TTD, or overlap syndromes to follow their clinical course. We will obtain tissue
(skin, blood, hair, or buccal cells) for laboratory examination of DNA repair and for
histologic, protein, biochemical, and genetic analysis. We hope to be able to correlate these
laboratory abnormalities with the clinical features to better understand the mechanism of
cancer prevention by DNA repair. Patients will be offered counseling and education for cancer
control.

Outcome Measures

Outcome measures are the tests that investigators perform to prove whether or not a treatment being tested in a clinical trial is having any effect.

INCLUSION CRITERIA:

  -  Subjects age 6 weeks and above:

       -  with clinical and/or laboratory documentation of typical features or suggestive
          clinical features of XP, CS, TTD, or overlap syndromes or

       -  that are first degree relatives or other family members of participants with XP,
          CS, TTD, or overlap syndromes

  -  Healthy volunteers of age 1 year and above (including NIH employees) willing to donate
     blood, skin, buccal cells, or hair.

  -  Patients or legally authorized representatives must provide informed consent.

EXCLUSION CRITERIA:

-Inability or unwillingness to provide tissue (skin, blood, buccal cells or hair) for
laboratory studies.