Dermatological Manifestations of Inherited Cancer Syndromes in Children

A. Karalis; M. Tischkowitz; G.W.M. Millington


The British Journal of Dermatology. 2011;164(2):245-256. 

In This Article

DNA Repair Defects

DNA repair is the process by which cells correct damage to genomic DNA.[5,6] This damage results from varied insults, including metabolic activities and environmental factors such as ultraviolet radiation (UVR) and ionizing radiation.[5,6] Inherited DNA repair defects thus make the individual particularly susceptible to permanent acquired structural damage to DNA.[5,6] These disorders are divided into base excision repair (BER), mismatch repair (MMR), nucleotide excision repair (NER) and double strand break repair defects (Fig. 1).[5,6] Only one human BER defect exists, MYH-associated polyposis, which lacks skin manifestations.[10] Cockayne syndrome and trichothiodystrophy (both NER) are not associated with systemic cancers.[6] The DNA repair defects with cutaneous features associated with cancer are discussed as follows.


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