Xeroderma pigmentosum

Xeroderma Pigmentosum can be defined as a genetic pathological condition of the autosomal recessive form in which the body loses its ability to repair damage caused to the body by the ultraviolet rays of the sun. In acute cases, the affected individual is required to completely stay away from sunlight.

Xeroderma pigmentosum

The main source of UV is the sun. The symptoms of XP can be seen in any sun-exposed area of the body. The effects are greatest on the skin, the eyelids and the surface of the eyes but the tip of the tongue may also be damaged. People with Xeroderma pigmentosum have a 10,fold increased risk for developing skin cancer including basal cell carcinoma, squamous cell carcinoma and melanoma.

They also have a fold increased risk for cancer of the eye and surrounding ocular tissues. These symptoms appear early in life, typically before age 10 years. XP is managed by preventative techniques i.

XP is an autosomal recessive genetic condition caused by alterations mutations in nine different genes. The ninth gene acts to bypass unrepaired damage. Introduction XP was first Xeroderma pigmentosum in Vienna, Austria in Sources of UV include the sun, unshielded florescent light bulbs, mercury vapor lights and halogen light bulbs.

Symptoms may differ from person to person, but typically impact the skin, eyes, and nervous system. Cutaneous Skin Effects Approximately half of XP patients develop blistering burns on sun exposed skin after minimal sun exposure sometimes less than 10 minutes in the sun.

These burns evolve over several days and may take greater than a week to heal. Sometimes these burns are so severe, child abuse is suspected. However, both types of sun reactions result in the early onset of lentigos freckling of the skin.

Lentigos, are a patchy freckling of the skin, that appear before the age of two years in XP patients. The lentigos can be seen on all sun exposed skin, but are often seen first on the face.

Xeroderma pigmentosum

Lentigos are a sign of unrepaired UV damage in the skin. Repeated sun exposure also results in xerosis dry, parchment-like skin and poikiloderma a mixture of both hyper increased and hypo decreased skin pigmentation, skin atrophy thinning of skin tissueand telangiectasia a widening of the small blood vessels, which produces red lines and patterns on the skin.

In people who do not have XP, poikiloderma is typically seen in older adults, such as farmers or sailors, with many years of sun exposure. For people with XP continuous repeated sun exposure has severe effects, resulting in the early development of precancerous skin spots a. Ocular Eye Effects The eyelids and the surface of the eyes exposed to sunlight will usually be affected within the first decade of life.

Photophobia light sensitivity, or pain upon seeing light is common and is often noted in infancy or early childhood. The conjunctiva the white portion of the eye may show sunlight induced inflammation.

Xeroderma Pigmentosum - Pictures, Life expectancy, Symptoms, Treatment - ( - Updated)

People with XP also develop dry eye. Dry eye can also result in chronic inflammation and keratitis. Keratitis, or inflammation of the cornea the clear outer dome of the eye may also occur in response to sunlight.

In severe cases, keratitis can result in corneal opacification lack of transparency and vascularization an increase in blood vessel density. These combined effects may obscure vision, contributing to blindness. With repeated sun exposure, the lids of the eyes may atrophy degenerateeyelashes may fall out, leaving the eyes unprotected and contributing to vision loss.

Cancers of the eyelids, tissues surrounding the eyes, cornea and sclera white part of the eye can occur very early in life. Surgeries to remove ocular cancers can lead to lid abnormalities resulting in difficulty completely closing the eyes and vision loss. When cancers in or near the eye are large or invasive, the eye itself may need to be removed.

The degeneration can vary in time of onset and rate of progression. Symptoms of the neurodegeneration include: These issues are thought to arise due to the loss of nerve cells in the brain.

The brains of XP patients with neurologic degeneration show atrophy shrinkage with marked dilation of the ventricles fluid filled spaces in the middle of the brain.

It is thought that accumulating unrepaired DNA damage in the brain cells results in their death, however, the source of this damage is has not been identified.Jun 10,  · Xeroderma pigmentosum (XP) was first described in by Hebra and Kaposi.

In , Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. Xeroderma pigmentosum (XP) is characterized by: Management. Treatment of manifestations: Small, premalignant skin lesions such as actinic keratoses can be treated by freezing with liquid nitrogen; larger areas can be treated with field treatments such as topical 5-fluorouracil or imiquimod.

Xeroderma Pigmentosum - GeneReviews® - NCBI Bookshelf

Rarely, therapeutic dermatome shaving or dermabrasion has been used; skin neoplasms can be treated (as. General Discussion.

Xeroderma pigmentosum

Summary. Xeroderma pigmentosum (XP) is a rare inherited skin disorder characterized by a heightened sensitivity to the DNA damaging effects of ultraviolet radiation (UV). a genetic disorder inherited as a recessive autosomal trait that is caused by a defect in mechanisms that repair DNA mutations (such as those caused by ultraviolet light) and is characterized by the development of pigment abnormalities and multiple skin cancers in areas exposed to the sun.

Xeroderma pigmentosum (XP) is an inherited disease that causes extreme sensitivity to ultraviolet (UV) light. UV light damages the genetic material in cells and disrupts normal cell initiativeblog.comly, damaged DNA is repaired by the body, but the DNA repair systems of people with XP do not function properly.

Xeroderma pigmentosum (XP) is a rare genetic disease with eight known subtypes. XP affects one out of every , people worldwide. In the United States and Europe, one out of every one million.

Xeroderma Pigmentosum: Treatment, Prognosis, Symptoms, Causes