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Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis
Juvenile dermatomyositis (JDM) is a rare, but well recognized multi-systemic inflammatory myopathy in children defined by proximal muscle weakness and distinctive skin lesions, that if recognized and treated early result in decreased morbidity and mortality. The 1975 criteria established by Bohan an...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elmer Press
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188024/ https://www.ncbi.nlm.nih.gov/pubmed/30344821 http://dx.doi.org/10.14740/jocmr3547w |
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author | Antoine, Maya Reeves, Patrick T Rohena, Luis Jones, Olcay Faux, Brian |
author_facet | Antoine, Maya Reeves, Patrick T Rohena, Luis Jones, Olcay Faux, Brian |
author_sort | Antoine, Maya |
collection | PubMed |
description | Juvenile dermatomyositis (JDM) is a rare, but well recognized multi-systemic inflammatory myopathy in children defined by proximal muscle weakness and distinctive skin lesions, that if recognized and treated early result in decreased morbidity and mortality. The 1975 criteria established by Bohan and Peter center around the propensity for early development of heliotrope and Gottron’s lesions in combination with specific laboratory abnormalities, and are still the leading diagnostic tool. The following case demonstrates a toddler with an atypical presentation of JDM in which delayed dermatologic manifestations hindered initial diagnosis. A previously healthy 2 years and 11 months old female presented to the emergency department with a 7-month history of bilateral knee pain and progressive muscular weakness. Initial evaluation yielded a diagnosis of idiopathic rhabdomyolysis but progressive deterioration prompted additional workup. During her course of care, the patient required admission at numerous facilities for specialty procedures including swallow studies, electromyography, Nissen fundoplication with G-tube insertion, and eventual muscle biopsy, resulting in pathology clinching the diagnosis. Post-diagnosis the development of a heliotrope and malar rash ensued, 11 months after commencement of original presentation. As the Bohan and Peter criteria of 1975 can help to aid in diagnosis of JDM for textbook presentations, atypical cases such as ours suggest that revision to current diagnostic criteria needs to be established. Also, with many pediatric rheumatologists opting for less invasive methods than muscle biopsy to aid in diagnosis, in combination with the heterogeneous nature of currently tracked serous markers, the risk for delayed or missed diagnosis is amplified. As prior research has demonstrated, early diagnosis leads to better outcomes for children battling JDM. Therefore, it is vital that criteria be revised and additional research be conducted for more sensitive and specific markers to help aid in early diagnosis of JDM. |
format | Online Article Text |
id | pubmed-6188024 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Elmer Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-61880242018-10-19 Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis Antoine, Maya Reeves, Patrick T Rohena, Luis Jones, Olcay Faux, Brian J Clin Med Res Case Report Juvenile dermatomyositis (JDM) is a rare, but well recognized multi-systemic inflammatory myopathy in children defined by proximal muscle weakness and distinctive skin lesions, that if recognized and treated early result in decreased morbidity and mortality. The 1975 criteria established by Bohan and Peter center around the propensity for early development of heliotrope and Gottron’s lesions in combination with specific laboratory abnormalities, and are still the leading diagnostic tool. The following case demonstrates a toddler with an atypical presentation of JDM in which delayed dermatologic manifestations hindered initial diagnosis. A previously healthy 2 years and 11 months old female presented to the emergency department with a 7-month history of bilateral knee pain and progressive muscular weakness. Initial evaluation yielded a diagnosis of idiopathic rhabdomyolysis but progressive deterioration prompted additional workup. During her course of care, the patient required admission at numerous facilities for specialty procedures including swallow studies, electromyography, Nissen fundoplication with G-tube insertion, and eventual muscle biopsy, resulting in pathology clinching the diagnosis. Post-diagnosis the development of a heliotrope and malar rash ensued, 11 months after commencement of original presentation. As the Bohan and Peter criteria of 1975 can help to aid in diagnosis of JDM for textbook presentations, atypical cases such as ours suggest that revision to current diagnostic criteria needs to be established. Also, with many pediatric rheumatologists opting for less invasive methods than muscle biopsy to aid in diagnosis, in combination with the heterogeneous nature of currently tracked serous markers, the risk for delayed or missed diagnosis is amplified. As prior research has demonstrated, early diagnosis leads to better outcomes for children battling JDM. Therefore, it is vital that criteria be revised and additional research be conducted for more sensitive and specific markers to help aid in early diagnosis of JDM. Elmer Press 2018-11 2018-10-09 /pmc/articles/PMC6188024/ /pubmed/30344821 http://dx.doi.org/10.14740/jocmr3547w Text en Copyright 2018, Antoine et al. http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Antoine, Maya Reeves, Patrick T Rohena, Luis Jones, Olcay Faux, Brian Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis |
title | Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis |
title_full | Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis |
title_fullStr | Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis |
title_full_unstemmed | Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis |
title_short | Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis |
title_sort | fashionably late: a case of delayed cutaneous manifestations in juvenile dermatomyositis |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188024/ https://www.ncbi.nlm.nih.gov/pubmed/30344821 http://dx.doi.org/10.14740/jocmr3547w |
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