Xeroderma pigmentosum: a case report and review of the literature

Inherited molecular defects in nucleotide excision repair genes cause the autosomal recessive condition xeroderma pigmentosum. Xeroderma pigmentosum is characterized by photo-hypersensitivity of sun-exposed tissues, and by a several thousand-fold increase in the risk of developing malignant neoplasm...

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Bibliographic Details
Published inJournal of preventive medicine and hygiene Vol. 51; no. 2; p. 87
Main Authors Feller, L, Wood, N H, Motswaledi, M H, Khammissa, R A G, Meyer, M, Lemmer, J
Format Journal Article
LanguageEnglish
Published Italy 01.06.2010
Subjects
Carcinoma, Squamous Cell - diagnosis
Carcinoma, Squamous Cell - epidemiology
Cheilitis - diagnosis
Cheilitis - etiology
Female
Humans
Skin Neoplasms - diagnosis
Skin Neoplasms - epidemiology
Xeroderma Pigmentosum - complications
Xeroderma Pigmentosum - diagnosis
Young Adult
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Summary:Inherited molecular defects in nucleotide excision repair genes cause the autosomal recessive condition xeroderma pigmentosum. Xeroderma pigmentosum is characterized by photo-hypersensitivity of sun-exposed tissues, and by a several thousand-fold increase in the risk of developing malignant neoplasms of the skin and of the eyes. Mutations in xeroderma pigmentosum genes that regulate nucleotide excision repair, not only predispose persons with xeroderma pigmentosum to multiple malignancies, but also promote premature cutaneous and ocular ageing, and in some cases promote progressive neurodegenerative changes. This paper describes a case of xeroderma pigmentosum with advanced cutaneous squamous cell carcinoma, actinic cheilitis and ocular lesions in a 19-year-old black woman. The extensive ultraviolet radiation-induced skin and eye damage are evidence of neglect of sun-protection and lack of appropriate medical care from childhood.
ISSN:1121-2233