Juvenile Clinically Amyopathic Dermatomyositis: A Case Report and Review of Literature
Identifieur interne : 000298 ( Pmc/Corpus ); précédent : 000297; suivant : 000299Juvenile Clinically Amyopathic Dermatomyositis: A Case Report and Review of Literature
Auteurs : Vadood Javadi Parvaneh ; Mehrdad Yasaei ; Khosro Rahmani ; Yalda NilipourSource :
- Iranian Journal of Child Neurology [ 1735-4668 ] ; 2019.
Abstract
Juvenile clinically amyopathic dermatomyositis (juvenile CADM) is a rare rheumatologic disease in children defined as the presence of the hallmark cutaneous features of dermatomyositis in absence of muscle involvement
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PubMed: 31327976
PubMed Central: 6586448
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Juvenile Clinically Amyopathic Dermatomyositis: A Case Report and Review of Literature</title><author><name sortKey="Javadi Parvaneh, Vadood" sort="Javadi Parvaneh, Vadood" uniqKey="Javadi Parvaneh V" first="Vadood" last="Javadi Parvaneh">Vadood Javadi Parvaneh</name><affiliation><nlm:aff id="aff1">Department of Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Yasaei, Mehrdad" sort="Yasaei, Mehrdad" uniqKey="Yasaei M" first="Mehrdad" last="Yasaei">Mehrdad Yasaei</name><affiliation><nlm:aff id="aff1">Department of Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Rahmani, Khosro" sort="Rahmani, Khosro" uniqKey="Rahmani K" first="Khosro" last="Rahmani">Khosro Rahmani</name><affiliation><nlm:aff id="aff1">Department of Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Nilipour, Yalda" sort="Nilipour, Yalda" uniqKey="Nilipour Y" first="Yalda" last="Nilipour">Yalda Nilipour</name><affiliation><nlm:aff id="aff2">Pediatric Pathology Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">31327976</idno><idno type="pmc">6586448</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586448</idno><idno type="RBID">PMC:6586448</idno><date when="2019">2019</date><idno type="wicri:Area/Pmc/Corpus">000298</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000298</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Juvenile Clinically Amyopathic Dermatomyositis: A Case Report and Review of Literature</title><author><name sortKey="Javadi Parvaneh, Vadood" sort="Javadi Parvaneh, Vadood" uniqKey="Javadi Parvaneh V" first="Vadood" last="Javadi Parvaneh">Vadood Javadi Parvaneh</name><affiliation><nlm:aff id="aff1">Department of Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Yasaei, Mehrdad" sort="Yasaei, Mehrdad" uniqKey="Yasaei M" first="Mehrdad" last="Yasaei">Mehrdad Yasaei</name><affiliation><nlm:aff id="aff1">Department of Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Rahmani, Khosro" sort="Rahmani, Khosro" uniqKey="Rahmani K" first="Khosro" last="Rahmani">Khosro Rahmani</name><affiliation><nlm:aff id="aff1">Department of Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</nlm:aff></affiliation></author><author><name sortKey="Nilipour, Yalda" sort="Nilipour, Yalda" uniqKey="Nilipour Y" first="Yalda" last="Nilipour">Yalda Nilipour</name><affiliation><nlm:aff id="aff2">Pediatric Pathology Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</nlm:aff></affiliation></author></analytic><series><title level="j">Iranian Journal of Child Neurology</title><idno type="ISSN">1735-4668</idno><idno type="eISSN">2008-0700</idno><imprint><date when="2019">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Juvenile clinically amyopathic dermatomyositis (juvenile CADM) is a rare rheumatologic disease in children defined as the presence of the hallmark cutaneous features of dermatomyositis in absence of muscle involvement<bold>. </bold>In this article, we report an Iranian 14.5-year-old girl presented to Rheumatology Clinic of Mofid Children's Hospital, Tehran, Iran in Jan 2016 with cutaneous complaints diagnosed with juvenile CADM. Finally, we provide a literature review of previous studies on juvenile CADM.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Sontheimer, Rd" uniqKey="Sontheimer R">RD Sontheimer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gerami, P" uniqKey="Gerami P">P Gerami</name></author><author><name sortKey="Walling, Hw" uniqKey="Walling H">HW Walling</name></author><author><name sortKey="Lewis, J" uniqKey="Lewis J">J Lewis</name></author><author><name sortKey="Doughty, L" uniqKey="Doughty L">L Doughty</name></author><author><name sortKey="Sontheimer, Rd" uniqKey="Sontheimer R">RD Sontheimer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jorizzo, Jl" uniqKey="Jorizzo J">JL Jorizzo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="El Azhary, Ra" uniqKey="El Azhary R">RA el-Azhary</name></author><author><name sortKey="Pakzad, Sy" 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Iran J Child Neurol</journal-id><journal-id journal-id-type="iso-abbrev">Iran J Child Neurol</journal-id><journal-id journal-id-type="publisher-id">IJCN</journal-id><journal-title-group><journal-title>Iranian Journal of Child Neurology</journal-title></journal-title-group><issn pub-type="ppub">1735-4668</issn><issn pub-type="epub">2008-0700</issn><publisher><publisher-name>Shahid Beheshti University of Medical Sciences</publisher-name><publisher-loc>Tehran, Iran</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">31327976</article-id><article-id pub-id-type="pmc">6586448</article-id><article-id pub-id-type="publisher-id">ijcn-13-113</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Juvenile Clinically Amyopathic Dermatomyositis: A Case Report and Review of Literature</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>JAVADI PARVANEH</surname><given-names>Vadood</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>YASAEI</surname><given-names>Mehrdad</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>RAHMANI</surname><given-names>Khosro</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>NILIPOUR</surname><given-names>Yalda</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="aff2">2</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</aff><aff id="aff2"><label>2</label>Pediatric Pathology Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</aff><author-notes><corresp id="cor">Corresponding Author: Shiari R.MD, Department of Rheumatology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Email: shiareza@yahoo.com</corresp></author-notes><pub-date pub-type="ppub"><season>Summer</season><year>2019</year></pub-date><volume>13</volume><issue>3</issue><fpage>113</fpage><lpage>120</lpage><history><date date-type="received"><day>19</day><month>4</month><year>2018</year></date><date date-type="rev-recd"><day>3</day><month>7</month><year>2018</year></date><date date-type="accepted"><day>28</day><month>8</month><year>2018</year></date></history><permissions><license license-type="open-access"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/3.0/">http://creativecommons.org/licenses/by/3.0/</ext-link>) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p>Juvenile clinically amyopathic dermatomyositis (juvenile CADM) is a rare rheumatologic disease in children defined as the presence of the hallmark cutaneous features of dermatomyositis in absence of muscle involvement<bold>. </bold>In this article, we report an Iranian 14.5-year-old girl presented to Rheumatology Clinic of Mofid Children's Hospital, Tehran, Iran in Jan 2016 with cutaneous complaints diagnosed with juvenile CADM. Finally, we provide a literature review of previous studies on juvenile CADM.</p></abstract><kwd-group><title>Key Words</title><kwd>Juvenile dermatomyositis</kwd><kwd>Juvenile clinically amyopathic dermatomyositis</kwd><kwd>Children</kwd><kwd>pediatrics</kwd><kwd>Dermatomyositis sine myositis</kwd></kwd-group></article-meta></front><body><sec sec-type="intro"><title>Introduction</title><p>Juvenile clinically amyopathic dermatomyositis (juvenile CADM) or dermatomyositis sine myositis is a rare rheumatic disease in children which the child initially presents with the classic rash of dermatomyositis in the absence of clinically muscle involvement (<xref rid="B1" ref-type="bibr">1</xref>, <xref rid="B2" ref-type="bibr">2</xref>). </p><p>Herein we present a teenage girl with juvenile CADM from Tehran, Iran.</p></sec><sec sec-type="cases"><title>Case Report</title><p>A 14.5-year-old girl was referred to the Rheumatology Clinic, Mofid Children's Hospital, Tehran, Iran in Jan 2016 with a history of weight loss, photosensitivity and violaceous rashes on her upper eyelids about 6 months ago. She had no complaints of fever, weakness, malaise, myalgia or arthralgia. The informed consent was obtained from the parents of the girl.</p><p>She was first treated by a dermatologist with a course of topical betamethasone, intramuscular glucocorticoids, and chlorpheniramine, but there was no significant improvement. On physical examination, there were bilateral heliotrope rashes on her upper eyelids extended to the ears. Malar rashes on her cheeks were noted, connecting together on the nose. Erythematous papular lesions were seen on her anterior and posterior chest (V sign), anterior and posterior neck (shawl sign) and also on her abdomen and flanks. She showed violaceous papules on her interphalangeal joints (Gottron’s papules) and extensor aspect of her forearms. Nail folds changes with periungual erythema were prominent. On her palate erythema and petechia were revealed. Proximal and distal muscle strength of limbs were normal and no muscle tenderness was noted.</p><p>The laboratory tests showed a complete blood count with a microchrome microcytic anemia compatible with minor beta thalassemia. Blood Urea Nitrogen (BUN), creatinine (Cr), creatine phosphokinase (CPK), aldolase, lactate dehydrogenase (LDH), aspartate transaminase (AST), alanine transaminase (ALT), C3, C4, CH50, protein C and S were all within normal range. Fluorescent antinuclear antibodies(FANA), anti-cyclic citrullinated peptide (CCP), perinuclear- antineutrophil cytoplasmic antibodies (P-ANCA), cytoplasmic-antineutrophil cytoplasmic antibodies (C-ANCA), anti-double strand-DNA (ds-DNA), anti topoisomerase1 (SCL-70), anti jo1, anticentromere and anti-ribonucleoprotein (RNP) were negative.</p><p>Capillaroscopy of nail fold showed angiogenesis, avascular area, irregularly enlarged loops, isolated micro-bleeding, megcapillary, and tortuosity. Electromyography (EMG) and nerve conduction velocity (NCV) were normal. In abdominopelvic sonography, liver echogenicity was mildly increased suggesting of grade I fatty liver. MRI of the thigh was normal (<xref ref-type="fig" rid="F1">Figure 1</xref>). Skin biopsy of the trunk lesions reported as lichenoid tissue reaction with superficial perivascular dermatitis and dermal mucin deposition compatible with collagen vascular disease (<xref ref-type="fig" rid="F2">Figure 2</xref>). Muscle biopsy was taken from biceps muscle and neither inflammation nor perifasicular atrophy pattern was seen (<xref ref-type="fig" rid="F3">Figure3</xref>). Cardiopulmonary investigation showed no abnormality on chest X-ray and echocardiography.</p><p>Treatment was started on Feb 2016 with ophthalmic ointment of hydrocortisone, hydroxychloroquine sulfate 6.5 mg/kg/d and prednisolone 1 mg/kg/d.</p><fig id="F1" position="float"><label>Figure 1</label><caption><p> Muscle MRI showed no abnormal signal</p></caption><graphic xlink:href="ijcn-13-113-g001"></graphic></fig><fig id="F2" position="float"><label>Figure 2</label><caption><p>Skin biopsy showed mild lichenoid reaction and perivascular chronic inflammatory cell infiltration of dermal layer and some epidermotropism and no spongiosis</p></caption><graphic xlink:href="ijcn-13-113-g002"></graphic></fig><fig id="F3" position="float"><label>Figure 3</label><caption><p>Muscle biopsy showed slight fiber variation and no necrosis/regeneration and perifascicular atrophy</p></caption><graphic xlink:href="ijcn-13-113-g003"></graphic></fig><p>After 10 wk, all cutaneous findings were resolved; therefore, the dosage of prednisolone was gradually tapered to 0.25 mg/kg/d over 6 months. During 36 month’s follow-up (Feb 2019), the patient had no manifestations of muscular, cutaneous and cardiopulmonary involvement.</p></sec><sec sec-type="discussion"><title>Discussion</title><p>Clinically amyopathic dermatomyositis (CADM) is defined as biopsy-confirmed hallmarked cutaneous manifestations of dermatomyositis without muscle weakness and with normal serum muscle enzymes. If more diagnostic muscle tests are performed, the results will be normal (<xref rid="B1" ref-type="bibr">1</xref>, <xref rid="B2" ref-type="bibr">2</xref>).</p><p>About 5%-20% of dermatomyositis patients are estimated to represent CADM (<xref rid="B3" ref-type="bibr">3</xref>-<xref rid="B5" ref-type="bibr">5</xref>). Childhood presentation of CADM is rare and there are not many studies on the epidemiology of juvenile CADM (<xref rid="B2" ref-type="bibr">2</xref>, <xref rid="B6" ref-type="bibr">6</xref>).</p><p>From the first cases described in 1963 (<xref rid="B7" ref-type="bibr">7</xref>), several cases of CADM have been reported describing the clinical feature, laboratory data, treatment courses, and disease complications. Some of these cases were patients younger than 18 yr of old classified as juvenile CADM. A systematic review for juvenile CADM was published and showed that in contrast with the adult-onset CADM, morbidity, and mortality in juvenile cases were related to calcinosis and severe vasculopathy, and no associated interstitial lung disease (ILD) was reported (<xref rid="B2" ref-type="bibr">2</xref>, <xref rid="B8" ref-type="bibr">8</xref>).</p><p>Although lung disease is rare among juvenile patients, there are some reports since 2007 about ILD in children with CADM (<xref rid="B9" ref-type="bibr">9</xref>-<xref rid="B17" ref-type="bibr">17</xref>). Four cases were reported of ILD among juvenile CADM, 2 with rapidly progressive ILD (RP-ILD) who died from diffuse alveolar damages and 2 with a chronic course (<xref rid="B17" ref-type="bibr">17</xref>). An 11-yr-old patient was reported with CADM and ILD (<xref rid="B11" ref-type="bibr">11</xref>). An 18-yr-old male and 16 yr old female reported with having RP-ILD (<xref rid="B12" ref-type="bibr">12</xref>). An 18-yr-old female had radiographic changes indicative of lung fibrosis (<xref rid="B13" ref-type="bibr">13</xref>). Eleven juvenile DM patients were described with ILD (5 with classic DM and 6 with CADM), 6 of them had RP-ILD and only 2 of them survived through the treatment (<xref rid="B9" ref-type="bibr">9</xref>). A 16-yr-old boy with hepatosplenomegaly and rapidly progressive interstitial pneumonia was reported; the patient died after 1 year (<xref rid="B14" ref-type="bibr">14</xref>). Juvenile CADM initiating with acquired inflammatory Blaschko-linear dermatosis in a 21-yr-old woman who had the skin lesions from 6-year-ago. The patient has signs of ILD in high resolution computerized tomography (HRCT) and pulmonary function test (PFT) (<xref rid="B15" ref-type="bibr">15</xref>). A case of hyper-ferritinemia syndrome evolving was reported in recurrent macrophage activation syndrome, as onset of amyopathic juvenile dermatomyositis. The patient was a 13-yr-old girl diagnosed for ILD due to cardiopulmonary insufficiency (<xref rid="B16" ref-type="bibr">16</xref>).</p><p>ILD, especially RP-ILD, occurs more in CADM patients than classic DM and has a poorer prognosis (<xref rid="B10" ref-type="bibr">10</xref>, <xref rid="B18" ref-type="bibr">18</xref>-<xref rid="B20" ref-type="bibr">20</xref>), several studies have been done to find the association between specific autoantibodies and the rate of ILD in CADM patients. Autoantibodies against 140-kDa cytoplasmic protein (Anti-CADM 140) was first described in adults with CADM in the Japanese population (<xref rid="B21" ref-type="bibr">21</xref>). The antigen of this antibody is an RNA helicase encoded by melanoma differentiation-associated gene 5 antibodies (MDA5) which is an important molecule in innate immunity (<xref rid="B22" ref-type="bibr">22</xref>, <xref rid="B23" ref-type="bibr">23</xref>). Later a strong association was seen between the RP-ILD and the presence of anti-CADM 140 (anti-MDA-5) in juvenile patients with both classic DM and CADM (<xref rid="B9" ref-type="bibr">9</xref>, <xref rid="B10" ref-type="bibr">10</xref>). Moreover, anti-MDA-5 antibodies are useful in predicting and evaluating response to treatment (<xref rid="B18" ref-type="bibr">18</xref>). Better response to treatment and survival was seen in patients who had a lower mean titer of anti-MDA antibody prior to the start of treatment (<xref rid="B24" ref-type="bibr">24</xref>).</p><p>Anti-MDA-5 is positive in juvenile chronic ILD cases as it is in rapidly progressive ones. Anti-MDA5 was positive in classic JDM with RP-ILD (<xref rid="B17" ref-type="bibr">17</xref>). In a study, including 2 juvenile patients, HLA– DRB1*0101/*0405 is associated with susceptibility to anti-MDA5 positive patients with CADM (<xref rid="B12" ref-type="bibr">12</xref>). Other autoantibodies also have been shown in CADM patients including Transcriptional Intermediary Factor 1-gamma (TIF1-gamma) and anti-aminoacyl-tRNA synthetase antibodies (anti-Jo-1, anti-EJ, anti-PL-7, anti-PL-12, and anti-KS) (<xref rid="B11" ref-type="bibr">11</xref>, <xref rid="B25" ref-type="bibr">25</xref>) but their presence in juvenile patients has not been identified.</p><p>There are no randomized control clinical trials on management of juvenile CADM. In a systematic review, topical corticosteroids were the most common treatment modality; however, many of the studies have not mentioned the management of the disease (All references in 2). In adult CADM cases, topical treatment (including sun protection, topical corticosteroids, topical calcineurin inhibitors) and systemic treatment (including oral corticosteroids, dapsone, antimalarials, IVIG, methoterexate, azatioprine, mycophenolate mofetil) have been administered in different studies (<xref rid="B26" ref-type="bibr">26</xref>).Using systemic corticosteroids in juvenile CADM has remained controversial. As an increased incidence of calcinosis was noted in patients with cutaneous findings preceding muscle symptoms (<xref rid="B27" ref-type="bibr">27</xref>). Early initial systemic management by corticosteroids may decrease the incidence of calcinosis in classic DM patients (<xref rid="B28" ref-type="bibr">28</xref>-<xref rid="B30" ref-type="bibr">30</xref>). On the other hand, there was no significant association between systemic treatment and the incidence of calcinosis in classic DM or juvenile CADM (<xref rid="B31" ref-type="bibr">31</xref>-<xref rid="B33" ref-type="bibr">33</xref>), plus the rate of calcinosis in juvenile CADM is very low in contrast to classic DM (<xref rid="B2" ref-type="bibr">2</xref>).</p><p>Hydroxychloroquine showed to have successful outcomes in resolving the cutaneous lesions of classic DM both in adults and juvenile patients (<xref rid="B34" ref-type="bibr">34</xref>, <xref rid="B35" ref-type="bibr">35</xref>). There are few case reports about the use of hydroxychloroquine in juvenile CADM patients (<xref rid="B16" ref-type="bibr">16</xref>, <xref rid="B36" ref-type="bibr">36</xref>-<xref rid="B40" ref-type="bibr">40</xref>).</p><p>Methotrexate in combination with corticosteroids showed satisfying results in juvenile CADM patients (<xref rid="B32" ref-type="bibr">32</xref>, <xref rid="B41" ref-type="bibr">41</xref>, <xref rid="B42" ref-type="bibr">42</xref>). The case of reference 6 treated with prednisolone and methotrexate, is on 2- year remission with 5-yr follow-up.</p><p>Recently, a treatment strategy for juvenile CADM patients was suggested but there are no recommendations in patients complicating with ILD (<xref rid="B43" ref-type="bibr">43</xref>).</p><p>Intensive therapy was administered in patients with ILD. Methylprednisolone pulse therapy, high dose oral prednisolone, cyclosporine A, cyclophosphamide, mizoribine and methotrexate reported in different studies (Sato Kobayashi abe poddighe cao) (<xref rid="B9" ref-type="bibr">9</xref>, <xref rid="B10" ref-type="bibr">10</xref>, <xref rid="B13" ref-type="bibr">13</xref>, <xref rid="B14" ref-type="bibr">14</xref>, <xref rid="B16" ref-type="bibr">16</xref>).</p><p><bold>In conclusion, </bold>Juvenile CADM is a rare condition among children. Although muscle weakness is absent in these patients and the rate of calcinosis is lower in contrast with classic JDM patients, they are at higher risk for ILD. Presence of anti MDA5 antibody has been shown to have a strong association with ILD in CADM patients and can be used as a prognostic factor as well as evaluating response to treatment. There is still a big controversy in managing juvenile CADM patients. The management of CADM is mostly based on treatment protocols used in classic DM patients and there are no specific clinical trials in juvenile CADM cases. However, in case of ILD intensive therapy seems to be the only option for reducing the mortality rate.</p></sec></body><back><ack><title>Acknowledgment</title><p> We would like to thank Laboratory and Pathology unit of Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran</p></ack><sec><title>Authors' contributions</title><p>VJP study concepts; study design; literature research; supervision and editing of manuscript writing. MY manuscript writing; literature research. KR conception of the work; literature research. YN histopathologic finding, report, and figures. 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