Xeroderma Pigmentosum


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xeroderma pigmentosum

[‚zir·ə′dər·mə ‚pig·mən′tō·səm]
(medicine)
A genodermatosis characterized by premature degenerative changes in the form of keratoses, malignant epitheliomatosis, and hyper- and hypopigmentation.

Xeroderma Pigmentosum

 

a chronic congenital disease of the skin, first described by the Austrian physician M. Kaposi in 1870.

Xeroderma pigmentosum is a hereditary disease (a recessive genodermatosis) often found in children whose parents are blood relatives. The disease begins in early childhood (at age two or three) with an increased sensitivity of the skin to ultraviolet rays. In the spring, reddish spots (to the size of a bean) appear on the exposed areas of the body (face, neck, hands, forearms, legs, and feet). These later acquire a yellowish brown tint, resembling freckles. The affected skin gradually becomes dry. Small scales form on its surface, sometimes accompanied by cracks and a purulent crust (a result of associated secondary infection). The skin in the affected areas subsequently becomes thin and begins to wrinkle. Distended blood vessels appear on its surface (telangiectases). Depigmented areas appear along with the pigmented spots. Often, warty growths appear around the nidi; these may degenerate into basal-cellular or spino-cellular epitheliomas. For this reason, xeroderma pigmentosum is regarded as a precancerous disease.

The treatment of xeroderma pigmentosum is directed mainly against the tumorous and ulcerous formations, using corticosteroids, short-focus X-ray therapy, electric coagulation, and surgical intervention.

Photodesensitizing preparations, photo-protective creams (containing 10 percent phenyl salicylate and 5 percent quinine), and the salve Fotonem are helpful in preventing appearances of the condition. Exposure to the sun should be avoided (especially during the spring and summer). Regular checkups are recommended.

I. IA. SHAKHMEISTER

References in periodicals archive ?
Xeroderma pigmentosum and related disorders: Defects in DNA repair and transcription.
Busch et al., "Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients," The Journal of Investigative Dermatology, vol.
We present a 12-year-old male with classical clinical manifestations of Xeroderma Pigmentosum and severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), who carries a homozygous germline mutation in the XPC gene.
Xeroderma pigmentosum group F caused by a defect in a structurespecific DNA repair endonuclease.
(73,74) Despite the higher risk for BCC in patients with xeroderma pigmentosum (XP), the role of DNA repair defects in sporadic BCC remains controversial.
Fukatsu, "Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome," Brain and Development, vol.
Exceptions to this trend are the Xeroderma pigmentosum complementation group D protein, XPD (also known as ERCC2 or Rad3), and Xeroderma pigmentosum complementation group B protein, XPB [135], which both form part of TFIIH in eukaryotes and are encoded by many archaea.
van der Horst et al., "A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein," Genes & Development, vol.
In children, it is usually associated with a genetic defect, such as basal cell nevus syndrome, xeroderma pigmentosum, nevus sebaceous, epidermodysplasia verruciformis, Rombo syndrome, or Bazex syndrome.
(17) In addition, patients with certain rare, genetic skin diseases, such as xeroderma pigmentosum (XP), are also at increased risks of developing skin cancers in sun-exposed body sites at early ages.
Pre-malignant conditions like oral leukoplakia, cervical dysplasia and xeroderma pigmentosum have been treated in chemopreventive trials with 13-cis-RA(Retinoic Acid).

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