Xeroderma pigmentosum
This presentation is the property of its rightful owner.
Sponsored Links
1 / 10

XERODERMA PIGMENTOSUM. PowerPoint PPT Presentation


  • 96 Views
  • Uploaded on
  • Presentation posted in: General

XERODERMA PIGMENTOSUM. FAIH OLUWATOSIN ILORI 1411 CASE 4. TABLE OF CONTENTS. DEFINITION. Causes. Symptoms. Exams and tests Treatment Refrences. DEFINITION.

Download Presentation

XERODERMA PIGMENTOSUM.

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.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -

Presentation Transcript


Xeroderma pigmentosum

XERODERMA PIGMENTOSUM.

FAIH OLUWATOSIN ILORI

1411

CASE 4.


Table of contents

TABLE OF CONTENTS.

  • DEFINITION.

  • Causes.

  • Symptoms.

  • Exams and tests

  • Treatment

  • Refrences


Definition

DEFINITION

  • Xeroderma pigmentosum is a rare condition passed down through families in which the skin and tissue covering the eye are extremely sensitive to ultraviolet light.


Causes

CAUSES.

  • Xeroderma pigmentosum is an autosomal recessive disorder. This means you must have two copies of an abnormal gene in order for the disease or trait to develop.

  • Ultraviolet light, such as from sunlight, damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in persons with xeroderma pigmentosum, the body does not fix the damage. As a result, the skin gets very thin and patches of varying colour (splotchy pigmentation) appear.

  • The condition also causes spidery blood vessels in the skin (telangiectasia) and skin cancer. Skin cancer often occurs before the child is 5 years old.


Symptoms

Symptoms.

  • Sunburn that does not heal after just a little bit of sun exposure

  • Blistering after just a little bit of sun exposure

  • Spider-like blood vessels under the skin

  • Patches of discoloured skin that get worse

  • Crusting of the skin

  • scaling of the skin

  • Oozing raw skin surface

  • Discomfort when being in bright light (photophobia).

  • Skin cancer


Exam and tests

Exam and tests.

  • The doctor will perform a physical exam and ask if you have a family history of xeroderma pigmentosum.

  • An eye exam may show:

  • Clouding of the cornea

  • Keratitis

  • Lid tumours

  • blepharitis


Contd

Contd.

  • The following tests can help diagnose the condition in a baby before the birth:

  • Aminiocentensis

  • Chorionic villous sampling

  • Culture of amniotic cells

  • The following tests can help diagnose the disorder after the birth of the child:

  • Culture of skin fibroblasts.

  • Skin biopsy.


Treatment

Treatment.

  • Children with this condition need total protection from sunlight. Even the light coming through windows or from fluorescent bulbs is dangerous.

  • When these children go out in the sun, they need to wear protective clothing.

  • Use high protection (SPF 70 or greater) sunscreen and very dark, UV sunglasses. Your doctor may prescribe medicine to help prevent certain precancerous growths from becoming skin cancers.


References

References.

  • Lim HW, Hawk JLM. Photodermatologic disorders. In: Bolognia JL, Jorizzo JL, Schaffer JV, eds. Dermatology. 3rd ed. Philadelphia, Pa: Elsevier Saunders; 2012:chap 87.

  • Schadt C, Fine JD. Genetic disorders predisposing to skin malignancy. In: Rigel DS, Robinson JK, Ross M, et al. eds. Cancer of the Skin. 2nd ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 33


  • Login