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- W1749732310 abstract "Aim: To determine the demographic and clinical characteristics of xeroderma pigmentosum (XP). XP is a rare autosomal recessive disease that is characterized by cellular hypersensitivity to ultraviolet radiation, development of cancers at an early age, severe actinic changes, and photophobia. Materials and methods: In the dermatology clinic of Yüzüncü Yıl University, Van, Turkey, 15 patients who were diagnosed with XP were seen between April 2004 and May 2010. They were evaluated according to their age, sex, family history, parental relationships, age at onset of skin lesions, presence of cutaneous malignancy, and neurological and ophthalmologic involvement. Results: The patients consisted of 8 males (53.33%) and 7 females (46.67%), and their ages ranged from 4 to 25 years (mean: 12.13). In 2 sibling cases, there was no parental consanguinity. Parental consanguinity was present in all of the other 13 cases (86.67%). The mean age at the onset of skin lesions was 1.4 years. Neurological involvement was not seen in any of the cases, but ophthalmologic involvement was seen in all of the cases. Skin malignancy was detected in 6 patients and actinic keratosis, keratoacanthoma, and multiple ulcers were observed in some of the patients. Conclusion: XP is an inherited disorder and mostly affects the skin. Clinical signs and symptoms usually develop over time. In this series, malignancy developed in 40% of the patients during the follow-up period. This study is a large case series in which XP is clinically assessed." @default.
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- W1749732310 date "2012-01-01" @default.
- W1749732310 modified "2023-09-30" @default.
- W1749732310 title "Xeroderma pigmentosum in eastern Turkey: a review of 15 cases" @default.
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- W1749732310 doi "https://doi.org/10.3906/sag-1012-2" @default.
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