Literature DB >> 20346687

Xeroderma pigmentosum: a review and case series.

Fawzia M A Butt1, Jeremiah R Moshi, Sira Owibingire, Mark L Chindia.   

Abstract

Xeroderma pigmentosa (XP) is a condition inherited as an autosomal recessive trait and is characterized by photosensitivity, pigmentary changes, premature skin ageing and malignant tumour development resulting from the defect in DNA repair. The management of complications of XP, especially orofacial tumours entails an enormous surgical challenge to the clinicians. We present five cases of XP.
Copyright © 2010 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

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Year:  2010        PMID: 20346687     DOI: 10.1016/j.jcms.2010.02.006

Source DB:  PubMed          Journal:  J Craniomaxillofac Surg        ISSN: 1010-5182            Impact factor:   2.078


  6 in total

Review 1.  Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

Authors:  Michael F Walsh; Vivian Y Chang; Wendy K Kohlmann; Hamish S Scott; Christopher Cunniff; Franck Bourdeaut; Jan J Molenaar; Christopher C Porter; John T Sandlund; Sharon E Plon; Lisa L Wang; Sharon A Savage
Journal:  Clin Cancer Res       Date:  2017-06-01       Impact factor: 12.531

Review 2.  Xeroderma pigmentosum: an updated review.

Authors:  Alexander Kc Leung; Benjamin Barankin; Joseph M Lam; Kin Fon Leong; Kam Lun Hon
Journal:  Drugs Context       Date:  2022-04-25

3.  Tongue cancer with mental retardation due to microcephaly: a clinical report.

Authors:  Akifumi Enomoto; Takanori Nakatani; Eri Morikage; Takeshi Shimoide; Suguru Hamada
Journal:  World J Surg Oncol       Date:  2015-07-16       Impact factor: 2.754

4.  Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation.

Authors:  Esteban Uribe-Bojanini; Sara Hernandez-Quiceno; Alicia María Cock-Rada
Journal:  Case Rep Med       Date:  2017-02-01

5.  Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

Authors:  Zineb Kindil; Mohamed Amine Senhaji; Amina Bakhchane; Hicham Charoute; Soumia Chihab; Sellama Nadifi; Abdelhamid Barakat
Journal:  BMC Res Notes       Date:  2017-12-06

Review 6.  DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.

Authors:  Richa Sharma; Sara Lewis; Marcin W Wlodarski
Journal:  Front Pediatr       Date:  2020-10-23       Impact factor: 3.418

  6 in total

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