Literature DB >> 17263199

[Ophtalmologic manifestations of the xeroderma pigmentosum].

Madiha Mseddi1, Dorra Sellami, Y Elloumi, Yacine Aloulou, Bourane Kammoun, Hamida Turki, Jamel Feki, Abdelmajid Zahaf.   

Abstract

Xéroderma pigmentosum (XP) is a rare genetic disease characterised by defective repair of DNA damage. We report a retrospective study of the ophtalmologic manifestations of 16 patients with xéroderma pigmentosum, the ophtalmologic manifestations were present in 62% of cases. The age of patients was 7 to 22 years. Photophobia were seen in all patients. Multiple tumors were seen with 5 squamous cell carcinoma. Tumor size was 1 to 6 cm. Ocular involvement occurs in up to 80% of cases of XP. Infection, néoplasia, conjonctiva are the most commun finding. Patients with XP can acquire squamous cell carcinoma at an early age.

Entities:  

Mesh:

Year:  2006        PMID: 17263199

Source DB:  PubMed          Journal:  Tunis Med        ISSN: 0041-4131


  2 in total

1.  Malignant neurilemoma with xeroderma pigmentosum.

Authors:  Li Na Wang; Min Jian Ma; Ji Tong Shi
Journal:  BMJ Case Rep       Date:  2009-04-07

2.  Orbital amelanotic melanoma in xeroderma pigmentosum: a rare association.

Authors:  Syed Ar Rizvi; Abadan K Amitava; Ghazala Mehdi; Rajeev Sharma; Mohammad S Alam
Journal:  Indian J Ophthalmol       Date:  2008 Sep-Oct       Impact factor: 1.848

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.