xeroderma pigmentosum

xeroderma pigmentosum
xeroderma pig·men·to·sum -.pig-mən-'tō-səm, -.men- n a genetic condition inherited as a recessive autosomal trait that is caused by a defect in mechanisms that repair DNA mutations (as those caused by ultraviolet light) and is characterized by the development of pigment abnormalities and multiple skin cancers in body areas exposed to the sun abbr. XP

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a rare, autosomal recessive, pigmentary and atrophic condition characterized by extreme cutaneous photosensitivity to ultraviolet radiation, as a result of defects in mechanisms of repair of ultraviolet-damaged DNA. It begins in childhood with senile changes in sun-exposed skin, including excessive freckling, telangiectases, keratoses, papillomas, and increased risk of all major types of skin cancer; there are also ocular disorders, including photophobia, lacrimation, keratitis, opacities, and tumors of the lid and cornea. Some patients have mental retardation, areflexia, or other neurological disorders. Multiple complementation groups exist, representing various mutations interfering with different proteins in the global genome repair subpathway of nucleotide excision repair; a variant form (xeroderma pigmentosum variant) is instead defective in a DNA polymerase important in postreplication repair of damaged DNA.

Xeroderma pigmentosum, showing atrophic changes and pigment disturbances.


Medical dictionary. 2011.

Look at other dictionaries:

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  • XERODERMA PIGMENTOSUM — (от греч. xeros сухой и derma кожа) (синонимы: melanosis lenticularis progressiva, epithelio matosis pigmentosa, liodermia essentialis cum melanose et teleangiectasia, atrophoder ma pigmentosum et atrophic, parched skin), заболевание, описанное… …   Большая медицинская энциклопедия

  • XERODERMA PIGMENTOSUM — Maladie cutanée héréditaire, transmise selon le type récessif, et caractérisée par une sensibilité de la peau de certains enfants ou adolescents aux radiations lumineuses. Le xeroderma pigmentosum affecte les zones découvertes (mains, cou, face)… …   Encyclopédie Universelle

  • xeroderma pigmentosum — xeroderma pigmentosum. См. пигментная ксеродерма. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • xeroderma pigmentosum — una afección precancerosa de herencia autosómica recesiva relacionada con un déficit de una enzima reparadora del DNA nuclear en el curso de la mitosis. Además de las manifestaciones neurológicas, esqueléticas y dermatológicas (poiquilodermia… …   Diccionario médico

  • Xeroderma pigmentosum — XP1 redirects here. For the phone, see Sonim XP1 ToughPhone. Xeroderma pigmentosum Classification and external resources ICD 10 Q82.1 ICD 9 …   Wikipedia

  • Xeroderma pigmentosum — Klassifikation nach ICD 10 Q82.1 Xeroderma pigmentosum …   Deutsch Wikipedia

  • Xeroderma Pigmentosum — Klassifikation nach ICD 10 Q82.1 Xeroderma pigmentosum …   Deutsch Wikipedia

  • Xeroderma pigmentosum — Lichtschrumpfhaut; Mondscheinkrankheit; Melanosis lenticularis progressiva (fachsprachlich) * * * Xerodẹrma pigmentosum   [zu griechisch dérma »Haut« und lateinisch pigmentum »Farbe«] das, s , Melanosis lenticularis progress …   Universal-Lexikon

  • xeroderma pigmentosum — Eng. Xeroderma pigmentosum Afección precancerosa de herencia autosómica recesiva relacionada con un déficit de una enzima reparadora del DNA nuclear en el curso de la mitosis. Además de las manifestaciones neurológicas, esqueléticas y… …   Diccionario de oftalmología

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