XERODERMA PIGMENTOSUM: A CASE REPORT OF TWO INDIAN SIBLINGS

Dr. Amarbir Singh, Dr. Amandeep Kaur, Dr. Sukhmani kaur Brar

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.


Keywords


Xeroderma pigmentosum, photosensitivity, DNA-repair defect disorders.

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