title: Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.
abstract: 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.
authors.affiliation: Department of Dermatology, Henry Ford Hospital, Detroit, Michigan.
authors.forename: Cerrene N
authors.initials: CN
authors.lastname: Giordano
authors.affiliation: Department of Dermatology, National Skin Centre, Singapore.
authors.forename: Yik Weng
authors.initials: YW
authors.lastname: Yew
authors.affiliation: Department of Biology, Stanford University, Stanford, California.
authors.forename: Graciela
authors.initials: G
authors.lastname: Spivak
authors.affiliation: Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address: hlim1@hfhs.org.
authors.forename: Henry W
authors.initials: HW
authors.lastname: Lim
mesh_terms: D001816:Bloom Syndrome / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D004260:DNA Repair; D045643:DNA Repair Enzymes / Q000172:deficiency / Q000235:genetics; D049914:DNA Repair-Deficiency Disorders / Q000453:epidemiology / Q000235:genetics*; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D006801:Humans; D009381:Neoplasms, Radiation-Induced / Q000209:etiology / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000235:genetics*; D018809:Proliferating Cell Nuclear Antigen / Q000235:genetics; D011038:Rothmund-Thomson Syndrome / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D012878:Skin Neoplasms / Q000209:etiology / Q000235:genetics*; D013472:Sunlight / Q000009:adverse effects; D014466:Ultraviolet Rays / Q000009:adverse effects; D014983:Xeroderma Pigmentosum / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics / Q000628:therapy
chemical_list: D018809:Proliferating Cell Nuclear Antigen; D045643:DNA Repair Enzymes
keywords: Bloom syndrome; Rothmund–Thomson; carcinogenic syndrome; nucleotide excision repair; photodermatoses; photosensitivity; xeroderma pigmentosum