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Volume 13 Issue 10 (October) 2024

Original Articles

Evaluation of cases of Xeroderma pigmentosum
Dr. Gulshant Panesar, Dr. Sameer Mishra

Background: An high sensitivity to ultraviolet (UV) rays from sunlight is a characteristic of Xeroderma pigmentosum (XP), a rare hereditary condition that is inherited. The present study was conducted to evaluate cases of Xeroderma pigmentosum. Materials & Methods: 26 patients with Xeroderma pigmentosum (XP) of both genders were recruited for the study. Parameters such as neurological symptomsand ocular symptoms were recorded. Results: Out of 26 patients, 15 were males and 11 were females. Neurological symptoms such as deafness was seen in 7, mental retardation in 3, spasticity in 15 and microcephaly in 1 patient. Ocular symptomssuch as lid atrophy was seen in 7, photophobia seen in 11, keratitis in 16 patients. The difference was non- significant (P> 0.05). Conclusion: Screening for XPA gene variations should be prompted by neurological problems in Indian individuals with xeroderma pigmentosum. Rapid molecular diagnosis would help with decisive diagnosis, genetic counselling, and prenatal diagnostics.

 
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