Abstract

XERODERMA PIGMENTOSUM; A REVIEW

Mallesh.M* and Purushothama Reddy.K

ABSTRACT

Xeroderma Pigmentosum (XP) is a rare, autosomal recessive condition characterized by the failure of DNA Nucleotide Excisional Repair (NER) results in sun sensitivity, which usually manifests as prolonged erythema, blistering, Freckling and poikiloderma. These patients develop multiple precancerous actinic keratosis and skin cancers. This review article discusses about the clear cut history, signs, diagnosis, and complications of XP. Also mentioned with the patient counseling points beneficial to patients as XP is non-curable disease, so due to its profound genetic importance, complete knowledge and awareness of the diseases to be provided to the patients, especially to avoid consanguineous marriages, genetic counselling helps to prevent further incidences in the family.

Keywords: Xeroderma Pigmentosum, Children of night, Photosensitivity, Nucleotide Excision Repair, Ultraviolet.