Xeroderma pigmentosum

From Health Encyclopedia

Contents 1 Used for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

Used for

DeSanctis Cacchione syndrome

Broader Terms

congenital skin disorder, genetic disorder

Related Terms

autosomal recessive trait, DNA repair, nonvisual photosensitivity

Scope Note

rare pigmentary atrophic autosomal recessive disease manifested as an extreme photosensitivity to ultraviolet light as the result of a deficiency in the enzyme that permits excisional repair of utraviolet damaged DNA.

Facts (generated by robot; please edit if you find it inaccurate)

• What causes xeroderma pigmentosum? Xeroderma pigmentosum is an autosomally recessive inherited disease, which means that you have inherited two recessive xeroderma pi 190 gmentosum genes (one from each parent).
• Xeroderma pigmentosum is characterized by multiple pigmented spots and larger atrophic lesions, and a glossy white thinning of the skin.
• The most common defect in xeroderma pigmentosum is an inherited defect that alters the nucleotide excision repair enzymes, and hinders their functionality.
• Disease: Xeroderma pigmentosum Synonyms: XP Information about Xeroderma pigmentosum is available from: ClinicalTrials.
• Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by photosensitivity, pigmentary changes, premature skin ageing and various neoplastic disorders.

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