Terminology Service for NFDI4Health
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Xeroderma Pigmentosum

Go to external page http://purl.obolibrary.org/obo/NCIT_C3452

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. [ ]

Term info

Label

Xeroderma Pigmentosum

Synonyms
  • Angioma Pigmentosum Atrophicum
  • Atrophoderma Pigmentosum
  • Kaposi Dermatosis
  • Kaposi Disease
  • Melanosis Lenticularis Progressiva
  • Pigmented Epitheliomatosis
  • Xeroderma Pigmentosum
  • Xeroderma Pigmentosum Syndrome
  • Xeroderma of Kaposi
  • xeroderma pigmentosum
Subsets

NCIT_C118168, NCIT_C116977

ALT DEFINITION

A genetic condition marked by an extreme sensitivity to ultraviolet radiation, including sunlight. People with xeroderma pigmentosum are not able to repair skin damage from the sun and other sources of ultraviolet radiation, and have a very high risk of skin cancer.

Display Name

Xeroderma Pigmentosum

Legacy Concept Name

Xeroderma_Pigmentosum

Preferred Name

Xeroderma Pigmentosum

Semantic Type

Disease or Syndrome

UMLS CUI

C0043346

code

C3452