Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the body′s normal ability to repair damage caused by ultraviolet light is deficient. This leads to a 1000-fold increased risk of cutaneous and ocular neoplasms. Ocular neoplasms occurring in XP in order of f...

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Autores principales: Rizvi, Syed A R, Amitava, Abadan K, Mehdi, Ghazala, Sharma, Rajeev, Alam, Mohammad S
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2008
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2636150/
https://www.ncbi.nlm.nih.gov/pubmed/18711275
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author Rizvi, Syed A R
Amitava, Abadan K
Mehdi, Ghazala
Sharma, Rajeev
Alam, Mohammad S
author_facet Rizvi, Syed A R
Amitava, Abadan K
Mehdi, Ghazala
Sharma, Rajeev
Alam, Mohammad S
author_sort Rizvi, Syed A R
collection PubMed
description Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the body′s normal ability to repair damage caused by ultraviolet light is deficient. This leads to a 1000-fold increased risk of cutaneous and ocular neoplasms. Ocular neoplasms occurring in XP in order of frequency are squamous cell carcinoma, basal cell carcinoma and melanoma. Malignant melanomas occur at an early age in patients with XP. We report a case of XP with massive orbital melanoma in an eight-year-old boy which is unique due to its amelanotic presentation confirmed histopathologically.
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spelling pubmed-26361502009-02-10 Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association Rizvi, Syed A R Amitava, Abadan K Mehdi, Ghazala Sharma, Rajeev Alam, Mohammad S Indian J Ophthalmol Brief Communication Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the body′s normal ability to repair damage caused by ultraviolet light is deficient. This leads to a 1000-fold increased risk of cutaneous and ocular neoplasms. Ocular neoplasms occurring in XP in order of frequency are squamous cell carcinoma, basal cell carcinoma and melanoma. Malignant melanomas occur at an early age in patients with XP. We report a case of XP with massive orbital melanoma in an eight-year-old boy which is unique due to its amelanotic presentation confirmed histopathologically. Medknow Publications 2008 /pmc/articles/PMC2636150/ /pubmed/18711275 Text en Copyright: © Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communication
Rizvi, Syed A R
Amitava, Abadan K
Mehdi, Ghazala
Sharma, Rajeev
Alam, Mohammad S
Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association
title Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association
title_full Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association
title_fullStr Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association
title_full_unstemmed Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association
title_short Orbital amelanotic melanoma in xeroderma pigmentosum: A rare association
title_sort orbital amelanotic melanoma in xeroderma pigmentosum: a rare association
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2636150/
https://www.ncbi.nlm.nih.gov/pubmed/18711275
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