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Hemimelic epiphyseal dysplasia: a case report

Hemimelic epiphyseal dysplasia HED also known as Trevor's disease is a rare pathology, characterized by a developmental disorder of an internal or external half of one or more epiphyses of a limb, mainly the lower limb, and/or of the short tarsal bones in children and young adolescents, with a...

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Autores principales: Hajjar, Chaymae, Haloua, Meriem, Bouardi, Nizar El, Alami, Badreeddine, Lamrani, Moulay Youssef Alaoui, Maaroufi, Mustapha, Boubbou, Meriem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9062141/
https://www.ncbi.nlm.nih.gov/pubmed/35515508
http://dx.doi.org/10.1016/j.radcr.2022.03.103
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author Hajjar, Chaymae
Haloua, Meriem
Bouardi, Nizar El
Alami, Badreeddine
Lamrani, Moulay Youssef Alaoui
Maaroufi, Mustapha
Boubbou, Meriem
author_facet Hajjar, Chaymae
Haloua, Meriem
Bouardi, Nizar El
Alami, Badreeddine
Lamrani, Moulay Youssef Alaoui
Maaroufi, Mustapha
Boubbou, Meriem
author_sort Hajjar, Chaymae
collection PubMed
description Hemimelic epiphyseal dysplasia HED also known as Trevor's disease is a rare pathology, characterized by a developmental disorder of an internal or external half of one or more epiphyses of a limb, mainly the lower limb, and/or of the short tarsal bones in children and young adolescents, with a male predominance. Its etiology remains unclear. Its clinical symptomatology is variable, ranging from asymptomatic involvement to orthopedic complications such as limb length inequality. As the clinic is non-specific, radiological assessment is the essential diagnostic tool for Trevor's disease, including standard radiography, MRI, CT, and possibly biopsy in some cases. The radio clinical signs make it possible to establish the diagnosis, even if it remains difficult because of the rarity of the disease and the presence of multiple differential diagnoses which are often better known such as osteochondroma and exostosis. After diagnostic confirmation, the therapeutic decision remains debated, ranging from simple observation to surgical excision. The prognosis of HED remains good, given the absence of the risk of malignant transformation. Post-therapeutic complications are dominated by recurrence or the appearance of secondary osteoarthritis. Objective: This clinical case challenges us to keep in mind the hemimelic epiphyseal dysplasia (HED) in front of a mass that originates at the level of the internal or external half of one or more epiphyses in children.
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spelling pubmed-90621412022-05-04 Hemimelic epiphyseal dysplasia: a case report Hajjar, Chaymae Haloua, Meriem Bouardi, Nizar El Alami, Badreeddine Lamrani, Moulay Youssef Alaoui Maaroufi, Mustapha Boubbou, Meriem Radiol Case Rep Case Report Hemimelic epiphyseal dysplasia HED also known as Trevor's disease is a rare pathology, characterized by a developmental disorder of an internal or external half of one or more epiphyses of a limb, mainly the lower limb, and/or of the short tarsal bones in children and young adolescents, with a male predominance. Its etiology remains unclear. Its clinical symptomatology is variable, ranging from asymptomatic involvement to orthopedic complications such as limb length inequality. As the clinic is non-specific, radiological assessment is the essential diagnostic tool for Trevor's disease, including standard radiography, MRI, CT, and possibly biopsy in some cases. The radio clinical signs make it possible to establish the diagnosis, even if it remains difficult because of the rarity of the disease and the presence of multiple differential diagnoses which are often better known such as osteochondroma and exostosis. After diagnostic confirmation, the therapeutic decision remains debated, ranging from simple observation to surgical excision. The prognosis of HED remains good, given the absence of the risk of malignant transformation. Post-therapeutic complications are dominated by recurrence or the appearance of secondary osteoarthritis. Objective: This clinical case challenges us to keep in mind the hemimelic epiphyseal dysplasia (HED) in front of a mass that originates at the level of the internal or external half of one or more epiphyses in children. Elsevier 2022-04-26 /pmc/articles/PMC9062141/ /pubmed/35515508 http://dx.doi.org/10.1016/j.radcr.2022.03.103 Text en © 2022 The Authors. Published by Elsevier Inc. on behalf of University of Washington. https://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
Hajjar, Chaymae
Haloua, Meriem
Bouardi, Nizar El
Alami, Badreeddine
Lamrani, Moulay Youssef Alaoui
Maaroufi, Mustapha
Boubbou, Meriem
Hemimelic epiphyseal dysplasia: a case report
title Hemimelic epiphyseal dysplasia: a case report
title_full Hemimelic epiphyseal dysplasia: a case report
title_fullStr Hemimelic epiphyseal dysplasia: a case report
title_full_unstemmed Hemimelic epiphyseal dysplasia: a case report
title_short Hemimelic epiphyseal dysplasia: a case report
title_sort hemimelic epiphyseal dysplasia: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9062141/
https://www.ncbi.nlm.nih.gov/pubmed/35515508
http://dx.doi.org/10.1016/j.radcr.2022.03.103
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