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Verrucous Carcinoma of Tongue in Xeroderma Pigmentosum: A Case Report and Literature Review

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by intense skin photosensitivity that is often associated with corneal ulceration, erythema, malignant lesions in sun-exposed areas, and neurological damage in severe cases. XP is due to alterations in the nucleo...

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Autores principales: Medeus, Arens Jean Ricardo, Desravines, Ansly Jefferson, Cotard, Vivianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9767790/
https://www.ncbi.nlm.nih.gov/pubmed/36561591
http://dx.doi.org/10.7759/cureus.31706
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author Medeus, Arens Jean Ricardo
Desravines, Ansly Jefferson
Cotard, Vivianne
author_facet Medeus, Arens Jean Ricardo
Desravines, Ansly Jefferson
Cotard, Vivianne
author_sort Medeus, Arens Jean Ricardo
collection PubMed
description Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by intense skin photosensitivity that is often associated with corneal ulceration, erythema, malignant lesions in sun-exposed areas, and neurological damage in severe cases. XP is due to alterations in the nucleotide excision repair system which could eliminate DNA fragments damaged by ultraviolet radiation. We report a case of a 14-year-old admitted for photophobia and a conjunctival mass. He underwent laboratory tests, including a complete blood count (CBC), which was unremarkable, and serological tests such as rapid plasma reagin (RPR) and human immunodeficiency virus (HIV) test were negative. A consultation in Ophthalmology was requested, concluding in bilateral corneal dystrophy. A few months later he developed two masses, one on the distal border of the tongue and the other at the level of the parotid region. He underwent two excisional biopsies; the parotid mass revealed an ulcerated squamous cell carcinoma on a background of xeroderma pigmentosum, and the tongue tip mass revealed a well-differentiated infiltrating verrucous carcinoma with a smooth margin. Xeroderma pigmentosum is a rare genodermatosis affecting the skin, eyes and oral cavity. It is sometimes associated with cancers of internal organs and rarely of the tongue. This study reports a case of XP associated with verrucous carcinoma of the tongue and ocular complications. Currently, there is no curative treatment for XP, and the only treatments available are symptomatic and preventive.
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spelling pubmed-97677902022-12-21 Verrucous Carcinoma of Tongue in Xeroderma Pigmentosum: A Case Report and Literature Review Medeus, Arens Jean Ricardo Desravines, Ansly Jefferson Cotard, Vivianne Cureus Dermatology Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by intense skin photosensitivity that is often associated with corneal ulceration, erythema, malignant lesions in sun-exposed areas, and neurological damage in severe cases. XP is due to alterations in the nucleotide excision repair system which could eliminate DNA fragments damaged by ultraviolet radiation. We report a case of a 14-year-old admitted for photophobia and a conjunctival mass. He underwent laboratory tests, including a complete blood count (CBC), which was unremarkable, and serological tests such as rapid plasma reagin (RPR) and human immunodeficiency virus (HIV) test were negative. A consultation in Ophthalmology was requested, concluding in bilateral corneal dystrophy. A few months later he developed two masses, one on the distal border of the tongue and the other at the level of the parotid region. He underwent two excisional biopsies; the parotid mass revealed an ulcerated squamous cell carcinoma on a background of xeroderma pigmentosum, and the tongue tip mass revealed a well-differentiated infiltrating verrucous carcinoma with a smooth margin. Xeroderma pigmentosum is a rare genodermatosis affecting the skin, eyes and oral cavity. It is sometimes associated with cancers of internal organs and rarely of the tongue. This study reports a case of XP associated with verrucous carcinoma of the tongue and ocular complications. Currently, there is no curative treatment for XP, and the only treatments available are symptomatic and preventive. Cureus 2022-11-20 /pmc/articles/PMC9767790/ /pubmed/36561591 http://dx.doi.org/10.7759/cureus.31706 Text en Copyright © 2022, Medeus et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Dermatology
Medeus, Arens Jean Ricardo
Desravines, Ansly Jefferson
Cotard, Vivianne
Verrucous Carcinoma of Tongue in Xeroderma Pigmentosum: A Case Report and Literature Review
title Verrucous Carcinoma of Tongue in Xeroderma Pigmentosum: A Case Report and Literature Review
title_full Verrucous Carcinoma of Tongue in Xeroderma Pigmentosum: A Case Report and Literature Review
title_fullStr Verrucous Carcinoma of Tongue in Xeroderma Pigmentosum: A Case Report and Literature Review
title_full_unstemmed Verrucous Carcinoma of Tongue in Xeroderma Pigmentosum: A Case Report and Literature Review
title_short Verrucous Carcinoma of Tongue in Xeroderma Pigmentosum: A Case Report and Literature Review
title_sort verrucous carcinoma of tongue in xeroderma pigmentosum: a case report and literature review
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9767790/
https://www.ncbi.nlm.nih.gov/pubmed/36561591
http://dx.doi.org/10.7759/cureus.31706
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