Xeroderma Pigmentosum Pdf
Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop by the time a child is 2 years old. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least nine genes have been identified. The condition is inherited in an autosomal recessive manner.
People with XP need total protection from sunlight. This includes protective clothing, sunscreen, and dark sunglasses when out in the sun. To prevent skin cancer, medications like retinoid creams may be prescribed. Skin cancers that do develop should be treated using standard practices. There is no cure for XP, but there are ways to prevent and treat some of the problems associated with it.
Some of the strategies employed in the management of XP include:. Protection from ultraviolet light. Frequent skin and eye examinations. Prompt removal of cancerous tissue. Neurological examination. Psychosocial careSmall, premalignant skin lesions such as can be frozen with.
Larger areas of sun-damaged skin can be treated with or. In rare cases, therapeutic is used to remove damaged superficial epidermal layers. Skin cancers can be treated using standard treatment protocols, including electrodesiccation and curettage (scrapes away the lesion and uses electricity to kill any remaining cells), surgical excision, or chemosurgery. High dose oral or acitretin can be used to prevent new cancers. Cancers of the eyelids, and cornea are usually treated surgically. Corneal transplantation may be necessary for those with severe keratitis and corneal opacity.More detailed information about the treatment of XP may be accessed through the following online resources:. GeneReviews:. Medscape Reference - &.
Unusual changes in the melanin pigmentary system were observed on a warty papule biopsy taken from a patient with xeroderma pigmentosum (XP). Degenerated melanocytes full of lipids were observed from the basal layer up to the middle of the epidermis. The melanosomes were polymorphous, variable in size and shape with very strange aspects, such as spider-like and whirling configurations. The structure of the macromelanosomes suggests that they are large autophagosomes. These findings are discussed and compared with previous studies.
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Xeroderma Pigmentosum Pdf Cover
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