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Disastrous evolution of ollier disease: a rare case report

Ollier disease is a rare genetic disorder characterized by the development of multiple enchondromas. The clinical manifestations of the disease vary widely, but patients often present with bone deformities and an increased risk of developing chondrosarcoma. Here, the authors present a case report of...

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Autores principales: Fadili, Omar, El Khaymy, Khalid, Bouzid, Youssef, El Adaoui, Oussama, El Andaloussi, Yassir, Fadili, Mustapha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10289570/
https://www.ncbi.nlm.nih.gov/pubmed/37363592
http://dx.doi.org/10.1097/MS9.0000000000000678
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author Fadili, Omar
El Khaymy, Khalid
Bouzid, Youssef
El Adaoui, Oussama
El Andaloussi, Yassir
Fadili, Mustapha
author_facet Fadili, Omar
El Khaymy, Khalid
Bouzid, Youssef
El Adaoui, Oussama
El Andaloussi, Yassir
Fadili, Mustapha
author_sort Fadili, Omar
collection PubMed
description Ollier disease is a rare genetic disorder characterized by the development of multiple enchondromas. The clinical manifestations of the disease vary widely, but patients often present with bone deformities and an increased risk of developing chondrosarcoma. Here, the authors present a case report of a 25-year-old male patient with a devastating and historic evolution of Ollier disease. CASE PRESENTATION: At the age of 10, the patient developed a sub-centimeter mass in the first phalanx of the left middle finger, which subsequently grew in size. A biopsy was performed at the age of 14, which confirmed the diagnosis of chondroma. At the age of 14, the patient developed multiple large masses on the left hand, resulting in the amputation of his left hand. At 25 years old, the patient developed new masses in his contralateral hand and left foot. DISCUSSION: Ollier disease is caused by somatic mutations in the PTH/PTHrP receptor gene, leading to the formation of multiple enchondromas. Patients with Ollier disease are at an increased risk of developing chondrosarcoma, which can be life-threatening. The diagnosis of Ollier disease is usually made based on clinical and radiographic findings, and genetic testing can confirm the diagnosis. Treatment is typically focused on managing the symptoms and preventing the development of chondrosarcoma. CONCLUSION: The authors presented a case report of a patient with a devastating and historic evolution of Ollier disease. This case highlights the importance of early diagnosis and management of this disease to prevent the development of chondrosarcoma and minimize the risk of complications. Further research is needed to better understand the underlying mechanisms of the disease and develop effective treatments.
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spelling pubmed-102895702023-06-24 Disastrous evolution of ollier disease: a rare case report Fadili, Omar El Khaymy, Khalid Bouzid, Youssef El Adaoui, Oussama El Andaloussi, Yassir Fadili, Mustapha Ann Med Surg (Lond) Case Reports Ollier disease is a rare genetic disorder characterized by the development of multiple enchondromas. The clinical manifestations of the disease vary widely, but patients often present with bone deformities and an increased risk of developing chondrosarcoma. Here, the authors present a case report of a 25-year-old male patient with a devastating and historic evolution of Ollier disease. CASE PRESENTATION: At the age of 10, the patient developed a sub-centimeter mass in the first phalanx of the left middle finger, which subsequently grew in size. A biopsy was performed at the age of 14, which confirmed the diagnosis of chondroma. At the age of 14, the patient developed multiple large masses on the left hand, resulting in the amputation of his left hand. At 25 years old, the patient developed new masses in his contralateral hand and left foot. DISCUSSION: Ollier disease is caused by somatic mutations in the PTH/PTHrP receptor gene, leading to the formation of multiple enchondromas. Patients with Ollier disease are at an increased risk of developing chondrosarcoma, which can be life-threatening. The diagnosis of Ollier disease is usually made based on clinical and radiographic findings, and genetic testing can confirm the diagnosis. Treatment is typically focused on managing the symptoms and preventing the development of chondrosarcoma. CONCLUSION: The authors presented a case report of a patient with a devastating and historic evolution of Ollier disease. This case highlights the importance of early diagnosis and management of this disease to prevent the development of chondrosarcoma and minimize the risk of complications. Further research is needed to better understand the underlying mechanisms of the disease and develop effective treatments. Lippincott Williams & Wilkins 2023-05-17 /pmc/articles/PMC10289570/ /pubmed/37363592 http://dx.doi.org/10.1097/MS9.0000000000000678 Text en Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/)
spellingShingle Case Reports
Fadili, Omar
El Khaymy, Khalid
Bouzid, Youssef
El Adaoui, Oussama
El Andaloussi, Yassir
Fadili, Mustapha
Disastrous evolution of ollier disease: a rare case report
title Disastrous evolution of ollier disease: a rare case report
title_full Disastrous evolution of ollier disease: a rare case report
title_fullStr Disastrous evolution of ollier disease: a rare case report
title_full_unstemmed Disastrous evolution of ollier disease: a rare case report
title_short Disastrous evolution of ollier disease: a rare case report
title_sort disastrous evolution of ollier disease: a rare case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10289570/
https://www.ncbi.nlm.nih.gov/pubmed/37363592
http://dx.doi.org/10.1097/MS9.0000000000000678
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