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Typical skin abnormalities in an adolescent XP patient (complementation group XP-C). Top: Pigmentation abnormalities; freckling and dryness and atrophy.

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Presentation on theme: "Typical skin abnormalities in an adolescent XP patient (complementation group XP-C). Top: Pigmentation abnormalities; freckling and dryness and atrophy."— Presentation transcript:

1 Typical skin abnormalities in an adolescent XP patient (complementation group XP-C). Top: Pigmentation abnormalities; freckling and dryness and atrophy visible at the sun-exposed areas of the skin. Bottom: Hand of same patient showing actinic keratosis and (pre)malignant lesions. (Courtesy of Department of Dermatology, Erasmus University, Rotterdam.) Source: Nucleotide Excision Repair Syndromes: Xeroderma Pigmentosum, Cockayne Syndrome, and Trichothiodystrophy *This text is a complete revision of Chapter 148, Xeroderma Pigmentosum and Cockayne Syndrome, in the 7th edition of Metabolic and Molecular Bases of Inherited Diseases. Part of this chapter is an updated version of Hoeijmakers JHJ: Human nucleotide excision repair syndromes: Molecular clues to unexpected intricacies, Eur J Cancer 30A(13):1912, 1994; used with permission from Elsevier Science, Ltd., The Boulevard, Lanfordlane, Kidlington OX5 1GB, UK. , The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: November 04, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved

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