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Xeroderma pigmentosum complementation group E

Orpha number ORPHA276261
Synonym(s) XPE
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Variable
ICD-10
  • Q82.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 56048001

Summary

Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers.

Less than 10 cases have been reported in the literature.

XPE patients present with mild XP symptoms and no neurological abnormalities. As their skin symptoms are mild, XPE patients often do not have rigorous photoprotection and therefore develop severe skin cancers in their 30s.

The disease is due to mutations in the XPE gene (DDB2) (11p12-p11), involved in the nucleotide excision repair (NER) system.

Transmission is autosomal recessive.

Expert reviewer(s)

  • Dr Hiva FASSIHI

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Detailed information

Summary information
Review article
  • EN (2011)
Guidance for genetic testing
  • EN (2013,pdf)
Clinical genetics review
  • EN (2014)
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