1 / 11

Xeroderma pigmentosa

Xeroderma pigmentosa. Definition. inherited inability to repair DNA damage from ultraviolet light. Cause. Autosomal recessive trait. Incidence. 1 or 2 people in 100,000. Risk Factors. It is a genetic disorder, there may or may not be a history of it in the family. Symptoms.

kateb
Download Presentation

Xeroderma pigmentosa

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Xeroderma pigmentosa

  2. Definition inherited inability to repair DNA damage from ultraviolet light

  3. Cause Autosomal recessive trait

  4. Incidence 1 or 2 people in 100,000

  5. Risk Factors It is a genetic disorder, there may or may not be a history of it in the family

  6. Symptoms *A sunburn that does not heal following minimal sun exposure *Blistering *Cutaneous telangiectasia *Increasing irregular pigmentation *Crusting and scaling of skin

  7. More symptoms: *Oozing raw skin surface *Discomfort when exposed to bright light (photophobia) *skin cancers at very early age

  8. Signs and Tests Examination of the eyes may show: *Clouding of the cornea *Keratitis *Lid tumors *Blepharitis *Amniocentesis, skin biopsies

  9. Treatment Total avoidance of sunlight, light through windows, and even florescent bulbs Sunscreen and sunglasses Long sleeves and pants

  10. Prognosis Most affected people die of malignancy early in adulthood.

  11. Prevention Genetic counseling for those with family history

More Related