Tags

Type your tag names separated by a space and hit enter

Xeroderma Pigmentosum: A Model for Human Premature Aging.
J Invest Dermatol. 2021 Jan 09 [Online ahead of print]JI

Abstract

Aging results from intrinsic changes (chronologic) and damage from external exposures (extrinsic) on the human body. The skin is ideal to visually differentiate their unique features. Inherited diseases of DNA repair, such as xeroderma pigmentosum (XP), provide an excellent model for human aging due to the accelerated accumulation of DNA damage. Poikiloderma, atypical lentigines, and skin cancers, the primary cutaneous features of XP, occur in the general population but at a much older age. Patients with XP also exhibit ocular changes secondary to premature photoaging, including ocular surface tumors and pterygium. Internal manifestations of premature aging, including peripheral neuropathy, progressive sensorineural hearing loss, and neurodegeneration, are reported in 25% of patients with XP. Internal malignancies, such as lung cancer, CNS tumors, and leukemia and/or lymphoma, occur at a younger age in patients with XP, as do thyroid nodules. Premature ovarian failure is overrepresented among females with XP, occurring 20 years earlier than in the general population. Taken together, these clinical findings highlight the importance of DNA repair in maintaining genomic integrity. XP is a unique model of human premature aging, which is revealing new insights into aging mechanisms.

Authors+Show Affiliations

Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA; Medical Research Scholar Program, National Institutes of Health, Bethesda, Maryland, USA.Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. Electronic address: kraemerk@mail.nih.gov.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

33436302

Citation

Rizza, Elizabeth R H., et al. "Xeroderma Pigmentosum: a Model for Human Premature Aging." The Journal of Investigative Dermatology, 2021.
Rizza ERH, DiGiovanna JJ, Khan SG, et al. Xeroderma Pigmentosum: A Model for Human Premature Aging. J Invest Dermatol. 2021.
Rizza, E. R. H., DiGiovanna, J. J., Khan, S. G., Tamura, D., Jeskey, J. D., & Kraemer, K. H. (2021). Xeroderma Pigmentosum: A Model for Human Premature Aging. The Journal of Investigative Dermatology. https://doi.org/10.1016/j.jid.2020.11.012
Rizza ERH, et al. Xeroderma Pigmentosum: a Model for Human Premature Aging. J Invest Dermatol. 2021 Jan 9; PubMed PMID: 33436302.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Xeroderma Pigmentosum: A Model for Human Premature Aging. AU - Rizza,Elizabeth R H, AU - DiGiovanna,John J, AU - Khan,Sikandar G, AU - Tamura,Deborah, AU - Jeskey,Jack D, AU - Kraemer,Kenneth H, Y1 - 2021/01/09/ PY - 2020/09/04/received PY - 2020/11/14/revised PY - 2020/11/16/accepted PY - 2021/1/13/entrez PY - 2021/1/14/pubmed PY - 2021/1/14/medline JF - The Journal of investigative dermatology JO - J Invest Dermatol N2 - Aging results from intrinsic changes (chronologic) and damage from external exposures (extrinsic) on the human body. The skin is ideal to visually differentiate their unique features. Inherited diseases of DNA repair, such as xeroderma pigmentosum (XP), provide an excellent model for human aging due to the accelerated accumulation of DNA damage. Poikiloderma, atypical lentigines, and skin cancers, the primary cutaneous features of XP, occur in the general population but at a much older age. Patients with XP also exhibit ocular changes secondary to premature photoaging, including ocular surface tumors and pterygium. Internal manifestations of premature aging, including peripheral neuropathy, progressive sensorineural hearing loss, and neurodegeneration, are reported in 25% of patients with XP. Internal malignancies, such as lung cancer, CNS tumors, and leukemia and/or lymphoma, occur at a younger age in patients with XP, as do thyroid nodules. Premature ovarian failure is overrepresented among females with XP, occurring 20 years earlier than in the general population. Taken together, these clinical findings highlight the importance of DNA repair in maintaining genomic integrity. XP is a unique model of human premature aging, which is revealing new insights into aging mechanisms. SN - 1523-1747 UR - https://www.unboundmedicine.com/medline/citation/33436302/Xeroderma_Pigmentosum:_A_Model_for_Human_Premature_Aging L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-202X(20)32358-7 DB - PRIME DP - Unbound Medicine ER -
Try the Free App:
Prime PubMed app for iOS iPhone iPad
Prime PubMed app for Android
Prime PubMed is provided
free to individuals by:
Unbound Medicine.