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xeroderma pigmentosum


Definition: an eruption of exposed skin occurring in childhood and characterized by photosensitivity with severe sunburn in infancy and the development of numerous pigmented spots resembling freckles, larger atrophic lesions eventually resulting in glossy white thinning of the skin surrounded by telangiectases, and multiple solar keratoses that undergo malignant change at an early age; results from several rare autosomal recessive complementation groups in which DNA repair processes are defective, so that they are more liable to chromosome breaks and cancerous change when exposed to ultraviolet light. Severe ophthalmic and neurologic abnormalities are also found.

See Also: De Sanctis-Cacchione syndrome

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.