Xeroderma Pigmentosum

Also found in: Dictionary, Thesaurus, Medical, Acronyms, Wikipedia.

xeroderma pigmentosum

[‚zir·ə′dər·mə ‚pig·mən′tō·səm]
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.


References in periodicals archive ?
When their children were born with an uncommon genetic defect, Xeroderma Pigmentosum (XP), the Yazzies had never heard of the disorder.
The XP Society was started by Dan and Caren Mahar, whose daughter, Katie, has xeroderma pigmentosum.
9 FM Source, y Site Trozak et al, EE (72) 1975 trunk Davidoff et al, EE (60) 1994 trunk Spatz et al, (37) Trunk 1996 (a) EE Naasan et al, NA (94) 1996 Karlsson et al, (28) EE 1998 (a) trunk Aldrink et al, EE (95) 2009 trunk Howman-Giles et Trunk al, (96) 2010 H&N EE Paradela et al, Trunk (11) 2010 EE Abbreviations: AL, acral lentiginous melanoma; AN, acquired nevus; CN, congenital nevus;DN, dysplastic nevus;EE, extremities; FM, familial melanoma; GS, global survival; H&N, head and neck;mo, month; NA, not available; NM, nodular melanoma;Prep, prepuberal; Postp, postpuberal; RMS, rhabdomyosarcoma; SS, superficial spreading melanoma; XP, xeroderma pigmentosum, m, mean.
A 2001 study allocated 30 patients with xeroderma pigmentosum to either dimericine or placebo for 1 year, in addition to sunscreen.
London, June 24 (ANI): Absence of a an enzyme is what makes patients with a variant form of xeroderma pigmentosum (XPV)- an inherited genetic disorder characterized by extreme sensitivity to the sun-more susceptible to skin cancers than the general population, found a study.
We have also applied this technique to locate the disease-causing gene out of 8 known disease-causing genes in a patient with xeroderma pigmentosum.
Some conditions, such as cervical dysplasia, erythroplasia or xeroderma pigmentosum are believed to serve as biomarkers for carginogenesis.
Epidemiologic studies have examined the relationship of polymorphisms in the NER genes Xeroderma pigmentosum groups A and D [XPA and XPD; Unigene accession numbers P23025, S10888, respectively (Unigene 2007)] and cancer risk.
Faulty DNA replication and repair can lead to severe human diseases such as xeroderma pigmentosum, a disorder characterized by extreme photosensitivity and a greater than 1000-fold increased risk of cutaneous and ocular neoplasms.
For instance, the chapter covering the process of DNA repair describes the DNA-repair disease xeroderma pigmentosum in sufficient detail that the reader begins to get a feel for how the basic biochemistry relates to the disease.
Saicha and Dale were born with the condition xeroderma pigmentosum.
The first story involves a girl inflicted with xeroderma pigmentosum.

Full browser ?