GTR Home > Conditions/Phenotypes > Xeroderma pigmentosum, variant type

Disease characteristics

Excerpted from the GeneReview: Xeroderma Pigmentosum
Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); and Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years).

Available tests

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Associated genes

Clinical features

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  • Freckling
  • Dry skin
  • Keratitis
  • Conjunctivitis
  • Photophobia
  • Entropion
  • Ectropion
  • Cutaneous photosensitivity
  • Poikiloderma
  • Basal cell carcinoma
  • Squamous cell carcinoma
  • Dermal atrophy
  • Teleangiectasia of the skin
  • Verrucae
  • Cutaneous melanoma
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