Document Detail

Xeroderma pigmentosum: a case report and review of the literature.
MedLine Citation:
PMID:  21155411     Owner:  NLM     Status:  MEDLINE    
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.
L Feller; N H Wood; M H Motswaledi; R A G Khammissa; M Meyer; J Lemmer
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of preventive medicine and hygiene     Volume:  51     ISSN:  1121-2233     ISO Abbreviation:  J Prev Med Hyg     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-12-15     Completed Date:  2011-01-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9214440     Medline TA:  J Prev Med Hyg     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  87-91     Citation Subset:  IM    
Department of Periodontology and Oral Medicine, School of Dentistry, Faculty of Health Sciences, University of Limpopo, Medunsa Campus, South Africa.
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MeSH Terms
Carcinoma, Squamous Cell / diagnosis,  epidemiology
Cheilitis / diagnosis,  etiology
Skin Neoplasms / diagnosis,  epidemiology
Xeroderma Pigmentosum / complications*,  diagnosis*
Young Adult

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