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THE PHARMA REVIEW (JULY AUGUST 2015)

A Rare Case Report of Xeroderma Pigmentosum with Squamous Cell Carcinoma of Skin - Pediatrics

B. N. V. Bhargavi Sri Lakshmi, K. Sri Lakshmi Silpa, Dr. N. Rama Rao & Dr. D. S. Raju Naidu

Introduction: Xeroderma pigmentosum (XP) is an inherited autosomal recessive condition. This is characterized by photo-hypersensitivity of tissues exposed to sun and by a several thousand-fold increase in the risk of developing malignant neoplasms of the skin. Mutations in xeroderma pigmentosum genes that regulate nucleotide excision repair- not only predispose persons with xeroderma pigmentosum to multiple malignancies but also promote premature cutaneous and ocular ageing; in some cases promote progressive neurodegenerative changes. This paper describes a case of xeroderma pigmentosum with advanced cutaneous squamous cell carcinoma, and ocular lesions in a 4-year-old female child. The extensive ultraviolet radiation-induced skin and eye damage are evidence of ignoring sun-protection and lack of appropriate medical care to the child. 

 

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