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Xeroderma Pigmentosum - Facts and Perspectives.

Abstract Ultraviolet (UV)-induced DNA lesions are almost exclusively removed by the nucleotide excision repair (NER) pathway, which is essential for prevention of skin cancer development. Patients with xeroderma pigmentosum (XP) are extremely sun sensitive due to a genetic defect in components of the NER cascade. They present with first signs of premature skin aging at an early age, with a considerably increased risk of developing UV-induced skin cancer. XP belongs to the group of DNA repair defective disorders that are mainly diagnosed in the clinic and in hindsight confirmed at the molecular level. Unfortunately, there are no causative treatment options for this rare, autosomal-recessive disorder, emphasizing the importance of an early diagnosis. Subsequently, UV-protective measures such as the reduction of exposure to environmental UV and regular skin cancer screenings should be undertaken to substantially improve prognosis as well as the disease course.
PMID
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Authors

Mayor MeshTerms
Keywords

Xeroderma pigmentosum

clinical and molecular diagnostics

interdisciplinary treatment

nucleotide excision repair

review

Journal Title anticancer research
Publication Year Start




PMID- 29374753
OWN - NLM
STAT- In-Process
LR  - 20180128
IS  - 1791-7530 (Electronic)
IS  - 0250-7005 (Linking)
VI  - 38
IP  - 2
DP  - 2018 Feb
TI  - Xeroderma Pigmentosum - Facts and Perspectives.
PG  - 1159-1164
AB  - Ultraviolet (UV)-induced DNA lesions are almost exclusively removed by the
      nucleotide excision repair (NER) pathway, which is essential for prevention of
      skin cancer development. Patients with xeroderma pigmentosum (XP) are extremely
      sun sensitive due to a genetic defect in components of the NER cascade. They
      present with first signs of premature skin aging at an early age, with a
      considerably increased risk of developing UV-induced skin cancer. XP belongs to
      the group of DNA repair defective disorders that are mainly diagnosed in the
      clinic and in hindsight confirmed at the molecular level. Unfortunately, there
      are no causative treatment options for this rare, autosomal-recessive disorder,
      emphasizing the importance of an early diagnosis. Subsequently, UV-protective
      measures such as the reduction of exposure to environmental UV and regular skin
      cancer screenings should be undertaken to substantially improve prognosis as well
      as the disease course.
CI  - Copyright(c) 2018, International Institute of Anticancer Research (Dr. George J. 
      Delinasios), All rights reserved.
FAU - Lehmann, Janin
AU  - Lehmann J
AD  - Clinic for Dermatology and Venereology, University Medical Center Rostock,
      Rostock, Germany.
FAU - Seebode, Christina
AU  - Seebode C
AD  - Clinic for Dermatology and Venereology, University Medical Center Rostock,
      Rostock, Germany.
FAU - Martens, Marie Christine
AU  - Martens MC
AD  - Clinic for Dermatology and Venereology, University Medical Center Rostock,
      Rostock, Germany.
FAU - Emmert, Steffen
AU  - Emmert S
AD  - Clinic for Dermatology and Venereology, University Medical Center Rostock,
      Rostock, Germany [email protected]
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Greece
TA  - Anticancer Res
JT  - Anticancer research
JID - 8102988
OTO - NOTNLM
OT  - Xeroderma pigmentosum
OT  - clinical and molecular diagnostics
OT  - interdisciplinary treatment
OT  - nucleotide excision repair
OT  - review
EDAT- 2018/01/29 06:00
MHDA- 2018/01/29 06:00
CRDT- 2018/01/29 06:00
PHST- 2017/11/01 00:00 [received]
PHST- 2017/11/30 00:00 [revised]
PHST- 2017/12/04 00:00 [accepted]
PHST- 2018/01/29 06:00 [entrez]
PHST- 2018/01/29 06:00 [pubmed]
PHST- 2018/01/29 06:00 [medline]
AID - 38/2/1159 [pii]
PST - ppublish
SO  - Anticancer Res. 2018 Feb;38(2):1159-1164.