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Xeroderma pigmentosum complementation group B

Orpha number ORPHA276252
Synonym(s) XPB
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Variable
ICD-10
  • Q82.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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

The disease has been described in less than 10 families.

Some XPB patients present with classic XP features of varying severity (photosensitivity of skin with burning and freckling, skin and eye tumors) and mild neurological abnormalities, while others combine classical XP features with systemic and neurological manifestations of Cockayne syndrome such as short stature, bilateral sensorineural hearing loss and hyperreflexia (XP/CS complex; see this term).

XPB is due to mutations in the XPB gene (ERCC3) (2q21), involved in the nucleotide excision repair (NER) system.

Transmission is autosomal recessive.

Expert reviewer(s)

  • Dr Hiva FASSIHI
Last update: May 2011

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Detailed information
Review article
  • EN (2011)
Clinical genetics review
  • EN (2013)
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