Overview

NCI Definition: 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. [1]

Significant Genes in Xeroderma Pigmentosum

EPCAM +

MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

PMS1 +

PMS2 +

POLD1 +

POLE +

Disease Details

Synonyms
Melanosis Lenticularis Progressiva, Xeroderma of Kaposi, Kaposi Dermatosis, Angioma Pigmentosum Atrophicum, Kaposi Disease, Pigmented Epitheliomatosis, Atrophoderma Pigmentosum, Xeroderma Pigmentosum Syndrome
Parent(s)
Autosomal Recessive Disease

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.