title: Xeroderma pigmentosum: a case report and review of the literature.
abstract: 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.
authors.affiliation: Department of Periodontology and Oral Medicine, School of Dentistry, Faculty of Health Sciences, University of Limpopo, Medunsa Campus, South Africa. lfeller@ul.ac.za
authors.forename: L
authors.initials: L
authors.lastname: Feller
authors.forename: N H
authors.initials: NH
authors.lastname: Wood
authors.forename: M H
authors.initials: MH
authors.lastname: Motswaledi
authors.forename: R A G
authors.initials: RA
authors.lastname: Khammissa
authors.forename: M
authors.initials: M
authors.lastname: Meyer
authors.forename: J
authors.initials: J
authors.lastname: Lemmer
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000453:epidemiology; D002613:Cheilitis / Q000175:diagnosis / Q000209:etiology; D005260:Female; D006801:Humans; D012878:Skin Neoplasms / Q000175:diagnosis / Q000453:epidemiology; D014983:Xeroderma Pigmentosum / Q000150:complications* / Q000175:diagnosis*; D055815:Young Adult