Xeroderma pigmentosum (XP) is a congenital disorder that causes excessive sun sensitivity, increasing the danger of skin cancer and other medical issues. Individuals with XP are vulnerable to the sun’s ultraviolet (UV) rays. Even a modest quantity of UV light causes severe blistering and sunburn, starting at a young age.

In addition, the increased susceptibility to UV radiation causes greater freckling and patches of lighter skin color. They could also have dehydrated skin. Skin cancers like basal cell and squamous cell skin cancer, as well as melanoma, are quite common.

Furthermore, patients with xeroderma pigmentosum often have ocular difficulties, particularly eyelids. Similar to their skin, their eyes are susceptible to light, which puts them at a higher risk of developing eye cancer. Cancers of the tip of the tongue, mouth and lips have also been documented. Patients with XP might also have neurological consequences, such as cognitive and developmental impairments and, in rare cases, central nervous system malignancies.


Xeroderma pigmentosum symptoms might vary but often impact your eyes, skin, and nervous system.

Skin symptoms might include the following:

  • Telangiectasia
  • Atrophy
  • Poikiloderma
  • Freckling before turning 2
  • Thin, dry skin
  • Blistering sunburns

Eye symptoms are:

  • Eyelash loss
  • Photophobia
  • Cornea opacification
  • Keratitis
  • Dry eye
  • Eyelid degeneration

Nervous system symptoms include:

  • Vocal cord paralysis
  • Microcephaly
  • Progressive hearing loss because of Inner ear nerve injury
  • Progressive cognitive decline
  • Spasticity and Ataxia
  • Loss of reflexes
  • Dysphagia
  • Health specialists believe these symptoms are caused by a loss of nerve cells in your
  • brain.


Depending on your symptoms, your medical practitioners might suspect xeroderma pigmentosum. A blood test is employed to verify an XP diagnosis. It is also performed to look for gene alterations that cause xeroderma pigmentosum.


There is no treatment for xeroderma pigmentosum. However, your doctor might recommend the following treatments to alleviate your symptoms:

  • To minimize irritation in your cornea, your physician might prescribe lubricating eye drops.
  • If your hearing loss worsens, your specialist might recommend hearing aids. They might prescribe cochlear implants in certain circumstances.
  • If skin cancer develops, you might require surgery to eliminate it. Alternatively, surgery may cure eye diseases like drooping eyelids or corneal issues. In extreme circumstances, a cornea transplant may be necessary.
  • Numerous individuals receive enough vitamin D through sun exposure and food.
  • People with XP might require a vitamin D supplement since they must prevent the sun.

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