Development of effective skin cancer treatment and prevention in xeroderma pigmentosum

W. Clark Lambert, Muriel Lambert

Research output: Contribution to journalReview article

17 Citations (Scopus)

Abstract

Xeroderma pigmentosum (XP) is a rare, recessively transmitted genetic disease characterized by increasingly marked dyspigmentation and xerosis (dryness) of sun-exposed tissues, especially skin. Skin cancers characteristically develop in sun-exposed sites at very much earlier ages than in the general population; these are often multiple and hundreds or even thousands may develop. Eight complementation groups have been identified. Seven groups, XP-A...G, are associated with defective genes encoding proteins involved in the nucleotide excision DNA repair (NER) pathway that recognizes and excises mutagenic changes induced in DNA by sunlight; the eighth group, XP-V, is associated with defective translesion synthesis (TLS) bypassing such alterations. The dyspigmentation, xerosis and eventually carcinogenesis in XP patients appear to be due to their cells' failure to respond properly to these mutagenic DNA alterations, leading to mutations in skin cells. A subset of cases, especially those in some complementation groups, may develop neurological degeneration, which may be severe. However, in most XP patients, in the past the multiple skin cancers have led to death at an early age due to either metastases or sepsis. Using either topical 5-fluorouracil or imiquimod, we have developed a protocol that effectively prevents most skin cancer development in XP patients.

Original languageEnglish (US)
Pages (from-to)475-483
Number of pages9
JournalPhotochemistry and photobiology
Volume91
Issue number2
DOIs
StatePublished - Jan 1 2015

Fingerprint

Xeroderma Pigmentosum
Oncology
Skin Neoplasms
Skin
cancer
deoxyribonucleic acid
Solar System
sun
DNA Repair
Sun
imiquimod
DNA
degeneration
nucleotides
metastasis
sunlight
Therapeutics
mutations
cells
Inborn Genetic Diseases

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Physical and Theoretical Chemistry

Cite this

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abstract = "Xeroderma pigmentosum (XP) is a rare, recessively transmitted genetic disease characterized by increasingly marked dyspigmentation and xerosis (dryness) of sun-exposed tissues, especially skin. Skin cancers characteristically develop in sun-exposed sites at very much earlier ages than in the general population; these are often multiple and hundreds or even thousands may develop. Eight complementation groups have been identified. Seven groups, XP-A...G, are associated with defective genes encoding proteins involved in the nucleotide excision DNA repair (NER) pathway that recognizes and excises mutagenic changes induced in DNA by sunlight; the eighth group, XP-V, is associated with defective translesion synthesis (TLS) bypassing such alterations. The dyspigmentation, xerosis and eventually carcinogenesis in XP patients appear to be due to their cells' failure to respond properly to these mutagenic DNA alterations, leading to mutations in skin cells. A subset of cases, especially those in some complementation groups, may develop neurological degeneration, which may be severe. However, in most XP patients, in the past the multiple skin cancers have led to death at an early age due to either metastases or sepsis. Using either topical 5-fluorouracil or imiquimod, we have developed a protocol that effectively prevents most skin cancer development in XP patients.",
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Development of effective skin cancer treatment and prevention in xeroderma pigmentosum. / Lambert, W. Clark; Lambert, Muriel.

In: Photochemistry and photobiology, Vol. 91, No. 2, 01.01.2015, p. 475-483.

Research output: Contribution to journalReview article

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