Adhesion Molecules-28

Advances and Experimental-3

Aging-9

Agricultural Biotechnology-37

Angiogenesis-29

Antisense-4

Apoptosis-49

Atherosclerosis-12

Autoimmunity-69

Bacterial Virulence-18

Bioinformatics-13

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Biosurfactants-1

Biotechnology-99

Cancer Genetics-25

Cancer Metastasis-19

Cell Biology-16

Cell Cycle-34

Cell Metabolism-327

Channels and Transporters-79

Chaperones-11

Circadian Rhythms-13

Coagulation-14

Cytokines/Growth Factors-52

Development-223

DNA-56

DNA Surveillance and Repair-42

Drug Design-17

Endocrine-66

Evolution-33

Extracellular Matrix-30

Gastroenterology-52

Gene Expression-178

Gene Therapy-53

Heart-61

Heat Shock Proteins-19

Hematology-11

Immunology-93

Infectious Disease-71

Ischemia-Reperfusion-33

Leptin and Leptin Antagonists-1

Medical-20

MHC-17

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Protein-12

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RNA-152

Signal Transduction-186

Stem Cells-80

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T-Cell Activation-12

Tissue Engineering-116

Transplant-51

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Viruses-85

Chapter category: DNA Surveillance and Repair

Clinical Features of Xeroderma Pigmentosum

Chapter authors:
Ulrich R. Hengge and Steffen Emmert

Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. Albert Neisser was the first to report neurological abnormalities associated with XP in 1883. XP is an autosomal recessive disease with defective nucleotide excision repair (NER). It is characterized by easily recognizable clinical hallmarks (Table 1). These manifestations are due to cellular hypersensitivity to ultraviolet (UV) radiation resulting from a defect in DNA repair. Two types of NER exist: global genome (GG‑NER) and transcription coupled (TC‑NER). Eight complementation groups, XPA‑XPG, corresponding to defects in the corresponding gene products of XPA‑XPG genes and XP‑variant, have been described. These entities occur with different frequencies (e.g., XPA is relatively common, whereas XPE is fairly rare) and they differ with respect to disease severity (e.g., XPG is severe, whereas XPF is mild) and involvement of skin, central nervous system and opthalmological manifestations (Table 2). Cockayne syndrome rarely occurs together with XPB, XPD and XPG. In addition to the DNA repair defects, UV radiation also exerts pronounced immunosuppressive effects that are likely to be involved in the pathogenesis of XP. Although typical symptoms of immune deficiency, such as multiple infections, are not usually observed in patients with XP, prominent depletion of Langerhans cells, induced by UV radiation, has been described in XP patients. Various other defects in cell‑mediated immunity such as impaired cutaneous responses to recall antigens, impaired lymphocyte proliferative responses to mitogens and decreased production of interferon as well as reduced natural killer cell activity have been detected in XP patients.

Ulrich R. Hengge
Department of Dermatology, Heinrich‑Heine‑University

Steffen Emmert
Department of Dermatology and Venerology, Georg-August-University, Goettingen

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