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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...

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Autores principales: Boulma, Rami, Ahmed, Yosra Ben, Oumaya, Meriem, Dhaoui, Amen, Saidani, Bilel, Khouni, Hassen, Chouchen, Adnen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
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.
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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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