IJSR International Journal of Scientific Research 2277 - 8179 Indian Society for Health and Advanced Research ijsr-9-1-23814 Original Research Paper XERODERMA PIGMENTOSUM: A CASE REPORT OF TWO INDIAN SIBLINGS Amarbir Singh Dr. Dr. Sukhmani kaur Brar Dr. January 2020 9 1 01 02 ABSTRACT

Xeroderma pigmentosum is a rare type of genodermatosis, inherited as an autosomal recessive disorder, characterized by photosensitivity, freckles, premature skin ageing, telangiectasis, pigmentary changes and skin cancers along with ocular, oral and neurological complications. These manifestations are due to mutation in seven nucleotide excision repair gene (XP–A to XP–G complement groups) and post replication repair defect (XP–Variant). We present a case of 2 Indian male siblings of 7 and 6 years of age with Xeroderma pigmentosum.