Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.
Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. The typical phenotypic findings of each disorder will be examined and contrasted, including noncutaneous identifiers to aid in diagnosis. The management of these patients will also be discussed. At this time, the mainstay of therapy remains strict photoprotection; however, genetic therapies are under investigation.
['Giordano|Cerrene N|CN|', 'Yew|Yik Weng|YW|', 'Spivak|Graciela|G|', 'Lim|Henry W|HW|']
D001816:Bloom Syndrome D004260:DNA Repair D045643:DNA Repair Enzymes D049914:DNA Repair-Deficiency Disorders D005808:Genes, Recessive D020022:Genetic Predisposition to Disease D006801:Humans D009381:Neoplasms, Radiation-Induced D009386:Neoplastic Syndromes, Hereditary D010641:Phenotype D010787:Photosensitivity Disorders D018809:Proliferating Cell Nuclear Antigen D011038:Rothmund-Thomson Syndrome D012878:Skin Neoplasms D013472:Sunlight D014466:Ultraviolet Rays D014983:Xeroderma Pigmentosum
photodermatoses photosensitivity xeroderma pigmentosum Bloom syndrome Rothmund–Thomson carcinogenic syndrome nucleotide excision repair