புற்றுநோய் அறிவியல் மற்றும் ஆராய்ச்சி இதழ்
திறந்த அணுகல்

சுருக்கம்

Case Report of Xeroderma Pigmantosum with Multiple Malignant Lesions , Present in Siblings Linking it to Genetic Aspect of the Disease, and PossibleTreatments.

Dipen Mistry

Being a Geno dermatosis, photosensitive disorder XERODERMA PIGMANTOSUM (XP) is a rare autosomal recessive disorder. Patient with XP commonly presented with an interactable and dermatological disease. Patients with XP are prone to cutaneous, mucosal malignancies and ophthalmic complications. Reason being inability to repair the ULTRAVIOLET (UV) radiation dispensed damage to Deoxyribo Nucleic Acid (DNA), genetic nature of disease is revealed. Not only genetic but environmental factor plays big role in course of disease. In XP cutaneous and mucosal basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) or melanoma is most common. XP characterized with sever sunburns, development of many freckles at early age, rough surfaced wart like growths, cutaneous and mucosal malignancies, blistering, telangiectases, ophthalmic manifestations, limited growth of hair on chest and legs and dry skin. 45 to 60% patients of XP were observed to be developing malignant skin neoplasm in different studies. Compare to normal controls Robbins has shown that incident of internal neoplasm in XP patient was 10-20 times higher. Angiosarcoma and Fibrosarcoma have also been reported.