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Inflammatory myopathies in a patient with Darier disease, a possible association
BACKGROUND: Darier disease (DD) is an autosomal dominant genetic disorder which develops from a mutation in the ATP2A2 gene. Inflammatory myopathies (IM) are the largest group of potentially treatable myopathies. In this case, we report development of IM in a patient with DD for the second time in t...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Babol University of Medical Sciences
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912232/ https://www.ncbi.nlm.nih.gov/pubmed/29732042 http://dx.doi.org/10.22088/cjim.9.2.201 |
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author | Gharaei Nejad, Kaveh Eftekhari, Hojat Rafiei, Rana Darjani, Abbas Alizadeh, Narges |
author_facet | Gharaei Nejad, Kaveh Eftekhari, Hojat Rafiei, Rana Darjani, Abbas Alizadeh, Narges |
author_sort | Gharaei Nejad, Kaveh |
collection | PubMed |
description | BACKGROUND: Darier disease (DD) is an autosomal dominant genetic disorder which develops from a mutation in the ATP2A2 gene. Inflammatory myopathies (IM) are the largest group of potentially treatable myopathies. In this case, we report development of IM in a patient with DD for the second time in the literature. CASE PRESENTATION: The patient is a 59-year-old female, a known case of DD, who developed proximal muscle weakness 2 weeks prior to admission. Elevated muscle-enzymes, as well as typical electromyographic and radiologic confirmed the diagnosis of IM. CONCLUSIONS: Abnormalities in intracellular calcium homeostasis may explain the association between DM and DD, therefore it is noteworthy to keep this association in mind and conduct more research regarding this issue. |
format | Online Article Text |
id | pubmed-5912232 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Babol University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-59122322018-05-04 Inflammatory myopathies in a patient with Darier disease, a possible association Gharaei Nejad, Kaveh Eftekhari, Hojat Rafiei, Rana Darjani, Abbas Alizadeh, Narges Caspian J Intern Med Case Report BACKGROUND: Darier disease (DD) is an autosomal dominant genetic disorder which develops from a mutation in the ATP2A2 gene. Inflammatory myopathies (IM) are the largest group of potentially treatable myopathies. In this case, we report development of IM in a patient with DD for the second time in the literature. CASE PRESENTATION: The patient is a 59-year-old female, a known case of DD, who developed proximal muscle weakness 2 weeks prior to admission. Elevated muscle-enzymes, as well as typical electromyographic and radiologic confirmed the diagnosis of IM. CONCLUSIONS: Abnormalities in intracellular calcium homeostasis may explain the association between DM and DD, therefore it is noteworthy to keep this association in mind and conduct more research regarding this issue. Babol University of Medical Sciences 2018 /pmc/articles/PMC5912232/ /pubmed/29732042 http://dx.doi.org/10.22088/cjim.9.2.201 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Gharaei Nejad, Kaveh Eftekhari, Hojat Rafiei, Rana Darjani, Abbas Alizadeh, Narges Inflammatory myopathies in a patient with Darier disease, a possible association |
title | Inflammatory myopathies in a patient with Darier disease, a possible association |
title_full | Inflammatory myopathies in a patient with Darier disease, a possible association |
title_fullStr | Inflammatory myopathies in a patient with Darier disease, a possible association |
title_full_unstemmed | Inflammatory myopathies in a patient with Darier disease, a possible association |
title_short | Inflammatory myopathies in a patient with Darier disease, a possible association |
title_sort | inflammatory myopathies in a patient with darier disease, a possible association |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912232/ https://www.ncbi.nlm.nih.gov/pubmed/29732042 http://dx.doi.org/10.22088/cjim.9.2.201 |
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