Xerodermapigmentosum: Case report of two siblings.
نویسندگان
چکیده
Xeroderma pigmentosum (XP) is a rare disorder, inherited as an autosomal recessive gemodermatosis. It is characterized by photosensitivity, freckly pigmented changes, premature skin ageing, telegiectasis, warty and papillomatous growth and malignant tumor development in later stage. It results from 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 two siblings. The first 5 year old and the other is 3 year old male child, both affected by Xeroderma Pigmentosum.
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ورودعنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 64 1 شماره
صفحات -
تاریخ انتشار 2016