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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...

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Autores principales: Gharaei Nejad, Kaveh, Eftekhari, Hojat, Rafiei, Rana, Darjani, Abbas, Alizadeh, Narges
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2018
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.
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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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