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Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association
INTRODUCTION: Xeroderma pigmentosum (XP) is a rare genetic disorder causing extreme sensitivity to ultraviolet (UV) rays. It is transmitted by an autosomal recessive mode. This disease is classically characterized by a high risk of skin cancer. The occurrence of extra-dermatological cancers in patie...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7779535/ https://www.ncbi.nlm.nih.gov/pubmed/33385877 http://dx.doi.org/10.1016/j.ijscr.2020.12.044 |
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author | Boulma, Rami Ahmed, Yosra Ben Oumaya, Meriem Dhaoui, Amen Saidani, Bilel Khouni, Hassen Chouchen, Adnen |
author_facet | Boulma, Rami Ahmed, Yosra Ben Oumaya, Meriem Dhaoui, Amen Saidani, Bilel Khouni, Hassen Chouchen, Adnen |
author_sort | Boulma, Rami |
collection | PubMed |
description | INTRODUCTION: Xeroderma pigmentosum (XP) is a rare genetic disorder causing extreme sensitivity to ultraviolet (UV) rays. It is transmitted by an autosomal recessive mode. This disease is classically characterized by a high risk of skin cancer. The occurrence of extra-dermatological cancers in patients followed for XP has been rarely reported in the literature. We present the case of a 14-year-old adolescent with an exceptional association of XP and renal leiomyosarcoma. PRESENTATION OF CASE: A 14-year-old adolescent was presented with an abdominal mass revealed by hematuria and abdominal pain. Computed tomography (CT) of the abdomen showed an enhancing, heterogeneous right renal mass, consistent with the features of renal tumor. After non conclusive biopsy, a total nephrectomy of the right kidney was performed. Based on gross specimen observation and immunochemical analysis, the patient was diagnosed with high-grade renal leiomyosarcoma. An adjuvant chemotherapy was indicated and the patient was referred to medical oncology. At 12 months follow-up, the patient is in total remission; The CT scan did not show any locoregional or distant recurrence CONCLUSION: The risk of renal tumor is increased in patients followed for XP. Attending physicians should ask for renal imaging at the slightest sign of clinical call. |
format | Online Article Text |
id | pubmed-7779535 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-77795352021-01-08 Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association Boulma, Rami Ahmed, Yosra Ben Oumaya, Meriem Dhaoui, Amen Saidani, Bilel Khouni, Hassen Chouchen, Adnen Int J Surg Case Rep Article INTRODUCTION: Xeroderma pigmentosum (XP) is a rare genetic disorder causing extreme sensitivity to ultraviolet (UV) rays. It is transmitted by an autosomal recessive mode. This disease is classically characterized by a high risk of skin cancer. The occurrence of extra-dermatological cancers in patients followed for XP has been rarely reported in the literature. We present the case of a 14-year-old adolescent with an exceptional association of XP and renal leiomyosarcoma. PRESENTATION OF CASE: A 14-year-old adolescent was presented with an abdominal mass revealed by hematuria and abdominal pain. Computed tomography (CT) of the abdomen showed an enhancing, heterogeneous right renal mass, consistent with the features of renal tumor. After non conclusive biopsy, a total nephrectomy of the right kidney was performed. Based on gross specimen observation and immunochemical analysis, the patient was diagnosed with high-grade renal leiomyosarcoma. An adjuvant chemotherapy was indicated and the patient was referred to medical oncology. At 12 months follow-up, the patient is in total remission; The CT scan did not show any locoregional or distant recurrence CONCLUSION: The risk of renal tumor is increased in patients followed for XP. Attending physicians should ask for renal imaging at the slightest sign of clinical call. Elsevier 2020-12-20 /pmc/articles/PMC7779535/ /pubmed/33385877 http://dx.doi.org/10.1016/j.ijscr.2020.12.044 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Article Boulma, Rami Ahmed, Yosra Ben Oumaya, Meriem Dhaoui, Amen Saidani, Bilel Khouni, Hassen Chouchen, Adnen Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association |
title | Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association |
title_full | Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association |
title_fullStr | Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association |
title_full_unstemmed | Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association |
title_short | Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association |
title_sort | xeroderma pigmentosum and renal leiomyosarcoma: a very rare case report association |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7779535/ https://www.ncbi.nlm.nih.gov/pubmed/33385877 http://dx.doi.org/10.1016/j.ijscr.2020.12.044 |
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