Xeroderma pigmentosum
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
ICD11: LD27.1
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
ICD11: LD27.1
Kaposi 1874
Moonlight disease, XP, atrophodermia pigmentosa (Crocker), light-shrinking skin, lioderma essentialis congenita (Auspitz).
Autosomal recessive inherited genodermatosis in which disruption of the nucleotide excision repair system leads to the expression of multiple tumours, premature skin ageing, neurological and ocular diseases.
Repair proteins | Gene locus | Deficiency | Function |
XP-A | 9q22 | DNA-damage binding protein 1 | Detection of damaged DNA disrupted |
XP-B | 2q21 | Disruption of excision-.repair-cross-complementing-3-gene | Deficiency of helicase |
XP-C | 3p25 | Deficiency of endonuclease | Detection of damaged DNA disturbed |
XP-D | 19q13 | Deficiency of excision-repair-cross-complementing-2-gene | Deficient helicase |
XP-E | 11p12 | Deficiency of DNA-damage binding protein 2 | Detection of damaged DNA impaired |
XP-F | 16ß13 | Deficiency of excision-repair-cross-complementing-4-gene à defect of endonuclease | Detection of damaged DNA disturbed |
XP-G | 13q33 | Defect of endonuclease | Detection of damaged DNA disturbed |
XP-V | 6p21 | Deficiency of DNA polymerase Ɛ | Deficiency of postreplication repair of DNA damage |
Especially sun-exposed areas.
General measures
Prophylaxis
Surgical measures
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