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Mazabraud's syndrome: Report of its first incidence in the Middle East and a literature review
INTRODUCTION: Mazabraud's syndrome, a rare benign disease with indolent course, is best described as an association between soft tissue myxoma and fibrous dysplasia of the bones. In this report, we describe the first case of this syndrome from Saudi Arabia. CASE PRESENTATION: A 24-year-old male...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602362/ https://www.ncbi.nlm.nih.gov/pubmed/26568824 http://dx.doi.org/10.1016/j.amsu.2015.09.009 |
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author | Alhujayri, Abdulaziz Khalid AlShomer, Feras Alalola, Rayan Alqahtani, Mohammed Alshanawani, Bisher |
author_facet | Alhujayri, Abdulaziz Khalid AlShomer, Feras Alalola, Rayan Alqahtani, Mohammed Alshanawani, Bisher |
author_sort | Alhujayri, Abdulaziz Khalid |
collection | PubMed |
description | INTRODUCTION: Mazabraud's syndrome, a rare benign disease with indolent course, is best described as an association between soft tissue myxoma and fibrous dysplasia of the bones. In this report, we describe the first case of this syndrome from Saudi Arabia. CASE PRESENTATION: A 24-year-old male in overall good health status, presented with progressive left knee swelling over 6 years with no other associated symptoms. The swelling measured 5 cm in diameter, with smooth surface, and soft palpable texture. Radiological examination followed by histopathological examination of the excised mass confirmed our diagnosis of Mazabraud's syndrome. The patient was closely followed up with systematic examination with no recurrence. DISCUSSION: Fibrous dysplasia, soft tissue myxoma and multiple endocrinological diseases like McCune-Albright syndrome characterize Mazabraud's syndrome. Furthermore, fibrous dysplasia is found to be associated with GNA1S gene mutation. Many patients can have asymptomatic course of the disease but may present with pathological fractures, pain, and limitation of movement when the myxoma is near the joints or just simple cosmetically disturbing swelling like in our case. CONCLUSION: Patients with such presentation need to be investigated thoroughly to rule out associated diseases and to evaluate the extent of such pathology. The improvement of radiological modalities can help in narrowing the differential diagnosis and following the patient to early detect the recurrence or any malignant transformation of the condition. |
format | Online Article Text |
id | pubmed-4602362 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-46023622015-11-13 Mazabraud's syndrome: Report of its first incidence in the Middle East and a literature review Alhujayri, Abdulaziz Khalid AlShomer, Feras Alalola, Rayan Alqahtani, Mohammed Alshanawani, Bisher Ann Med Surg (Lond) Case Report INTRODUCTION: Mazabraud's syndrome, a rare benign disease with indolent course, is best described as an association between soft tissue myxoma and fibrous dysplasia of the bones. In this report, we describe the first case of this syndrome from Saudi Arabia. CASE PRESENTATION: A 24-year-old male in overall good health status, presented with progressive left knee swelling over 6 years with no other associated symptoms. The swelling measured 5 cm in diameter, with smooth surface, and soft palpable texture. Radiological examination followed by histopathological examination of the excised mass confirmed our diagnosis of Mazabraud's syndrome. The patient was closely followed up with systematic examination with no recurrence. DISCUSSION: Fibrous dysplasia, soft tissue myxoma and multiple endocrinological diseases like McCune-Albright syndrome characterize Mazabraud's syndrome. Furthermore, fibrous dysplasia is found to be associated with GNA1S gene mutation. Many patients can have asymptomatic course of the disease but may present with pathological fractures, pain, and limitation of movement when the myxoma is near the joints or just simple cosmetically disturbing swelling like in our case. CONCLUSION: Patients with such presentation need to be investigated thoroughly to rule out associated diseases and to evaluate the extent of such pathology. The improvement of radiological modalities can help in narrowing the differential diagnosis and following the patient to early detect the recurrence or any malignant transformation of the condition. Elsevier 2015-09-21 /pmc/articles/PMC4602362/ /pubmed/26568824 http://dx.doi.org/10.1016/j.amsu.2015.09.009 Text en © 2015 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 | Case Report Alhujayri, Abdulaziz Khalid AlShomer, Feras Alalola, Rayan Alqahtani, Mohammed Alshanawani, Bisher Mazabraud's syndrome: Report of its first incidence in the Middle East and a literature review |
title | Mazabraud's syndrome: Report of its first incidence in the Middle East and a literature review |
title_full | Mazabraud's syndrome: Report of its first incidence in the Middle East and a literature review |
title_fullStr | Mazabraud's syndrome: Report of its first incidence in the Middle East and a literature review |
title_full_unstemmed | Mazabraud's syndrome: Report of its first incidence in the Middle East and a literature review |
title_short | Mazabraud's syndrome: Report of its first incidence in the Middle East and a literature review |
title_sort | mazabraud's syndrome: report of its first incidence in the middle east and a literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602362/ https://www.ncbi.nlm.nih.gov/pubmed/26568824 http://dx.doi.org/10.1016/j.amsu.2015.09.009 |
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