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IP Indian Journal of Clinical and Experimental Dermatology


Cutaneous manifestations of Xeroderma Pigmentosum-ten cases


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Author Details: Anirudha Gulanikar, Shreya Thatte, Pranali Uttam Rathod

Volume : 3

Issue : 1

Online ISSN : 2581-4729

Print ISSN : 2581-4710

Article First Page : 32

Article End Page : 35


Abstract

Background: Xeroderma pigmentosa (XP) is rare inherited autosomal recessive disorder. The defect is in DNA repair mechanism which is induced by ultra violet rays. It is characterized by photosensitivity, freckles, telengiactesia, xerosis, actinic keratosis, erythema, lentiginious macules and malignant lesion in sun-exposed areas. The malignancy seen are BCC, SCC and malignant melanoma.
Methods: We report ten cases XP of different age group with dermatological manifestations of varied severity at MGM Medical College and hospital Aurangabad and Sir Aurobindo Medical college institute Indore (MP). This is one of the largest case series we are reporting.
Conclusion: XP patient have shorter life span because of recurrent malignancies. It is important to have proper follow up and evaluation of the patient for early diagnosis and treatment of malignancies. Genetic counseling is important where siblings are affected to prevent further transmission of XP in familial cases.

Keywords:
Xeroderma pigmentosa, BCC, SCC, Cutaneous manifestations