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Xeroderma pigmentosum variant

Disease definition

Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.

ORPHA:90342

  • Synonym(s):
    • XPV
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: Q82.1
  • OMIM: 278750
  • UMLS: C0432328  C1848410
  • MeSH: C536766
  • GARD: 5630
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.