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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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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 |
Sumario: | 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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