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What is Xeroderma pigmentosum?

What is Xeroderma pigmentosum?

  • Xeroderma pigmentosum: A rare pigmentary disease that is caused by an enzyme deficiency.
  • Xeroderma pigmentosum: An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities. --2004
    Source - Diseases Database
  • Xeroderma pigmentosum: a rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn; inherited as a recessive autosomal trait in which DNA repair processesm are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light.
    Source - WordNet 2.1

Xeroderma pigmentosum is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Xeroderma pigmentosum, or a subtype of Xeroderma pigmentosum, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Xeroderma pigmentosum as a "rare disease".
Source - Orphanet

Xeroderma pigmentosum: Introduction

Types of Xeroderma pigmentosum:

Broader types of Xeroderma pigmentosum:

How serious is Xeroderma pigmentosum?

Complications of Xeroderma pigmentosum: see complications of Xeroderma pigmentosum

What causes Xeroderma pigmentosum?

Causes of Xeroderma pigmentosum: see causes of Xeroderma pigmentosum

What are the symptoms of Xeroderma pigmentosum?

Symptoms of Xeroderma pigmentosum: see symptoms of Xeroderma pigmentosum

Complications of Xeroderma pigmentosum: see complications of Xeroderma pigmentosum

Can anyone else get Xeroderma pigmentosum?

More information: see contagiousness of Xeroderma pigmentosum
Inheritance: see inheritance of Xeroderma pigmentosum

Xeroderma pigmentosum: Testing

Misdiagnosis: see misdiagnosis and Xeroderma pigmentosum.

How is it treated?

Doctors and Medical Specialists for Xeroderma pigmentosum: Medical Geneticist ; see also doctors and medical specialists for Xeroderma pigmentosum.
Treatments for Xeroderma pigmentosum: see treatments for Xeroderma pigmentosum
Research for Xeroderma pigmentosum: see research for Xeroderma pigmentosum

Name and Aliases of Xeroderma pigmentosum

Main name of condition: Xeroderma pigmentosum

Other names or spellings for Xeroderma pigmentosum:

xeroderma pigmentosa syndrome, XP

Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Xeroderma pigmentosum: Related Conditions

Research the causes of these diseases that are similar to, or related to, Xeroderma pigmentosum:


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