Heliotrope Rash Research Articles

Paraneoplastic dermatomyositis with carcinoma cervix: a rare clinical association.

Dermatomyositis is an uncommon inflammatory myopathy associated with cutaneous manifestations. It may also occur as paraneoplastic syndrome associated with various malignancies, most common of which being lung, breast, stomach, rectum, kidney, or testicular cancer. A postmenopausal woman presented to us with generalized itching along with skin rash and proximal muscle weakness of 2 years' duration. Examination revealed heliotrope rash and mechanic hands and muscle power 2/5 in proximal muscle groups of both upper and lower limbs. A clinical diagnosis of dermatomyositis was made which was supported by raised lactate dehydrogenase levels and skin biopsy findings. Past history was significant for vaginal discharge and bleeding per vagina. Further work-up revealed carcinoma cervix and she was referred to oncology department for further management. Temporal relationship and improvement of muscle weakness with treatment of underlying neoplasm supported its paraneoplastic nature. So, final diagnosis of keratinizing squamous cell carcinoma of cervix with paraneoplastic dermatomyositis was made. A nationwide cohort study of 1,012 patients with dermatomyositis in Taiwan revealed only 3 patients with cervical cancer. So this case is being reported for its rare association with carcinoma cervix and to highlight the need of detailed evaluation for underlying malignancies in patients with dermatomyositis.

PReS-FINAL-1020: Dysregulation of the peripheral blood D cell compartment is associated with disease activity in juvenile dermatomyositis

Juvenile dermatomyositis (JDM) is an autoimmune disease characterized by proximal muscle weakness and cutaneous manifestations, typically heliotrope rash and Gottron's papules. Previous studies have identified an increase in circulating B cells in JDM patients, but their provenance and functional characteristics have not been examined. In this study we investigated whether a recently identified immature B cell subset (CD24hiCD38hi) with known regulatory function (Breg) was enriched in JDM and correlated with disease outcome measures.

Gastroparesis in a Dermatomyositis Patient Successfully Treated with Intravenous Immunoglobulin

Purpose: A 27-year-old African-American male with a past medical history of discoid lupus, hypertension, and DM presented with a 2-month history of a 20-lb weight loss and vomiting. Symptoms were associated with abdominal distension and early satiety. Physical exam showed cachexia, severe muscle atrophy, erythematous violaceous rash involving cheeks and forehead in malar region, gottron's papules, and multiple healing ulcers. Abdominal exam was unremarkable. Labs remarkable for CK 274 U/L, aldolase 8.1 U/L, ESR 47 mm/hr, CRP 1.7 mg/dl, ANA 1:160, and SSA 32.3 AU/ml. SSB, anti-Smith, Anti-RNP, dsDNA, Anti-B2 glycoprotein and anticardiolipin antibodies were all negative. EGD showed multiple erosions in the antrum and duodenitis in the bulb. Gastric biopsies were negative for H. pylori and vasculitis. Gastric emptying studying revealed significant delay in gastric emptying with 85% of the nuclear material retained at 4 hours. His DM was difficult to control with different immune modulators/suppressants including methotrexate (MTX), prednisone, hydroxychlorquine, mycophenolate and cyclosporine- either due to treatment failure or side effects intolerance. Azathioprine was not initiated due to low thiopurine methyltransferase RBC assay. He refused any surgical interventions and was started on monthly intravenous immunoglobulin (IVIG) and given metoclopramide for symptom relief (macrolides could not be used as his QTc was prolonged). He was also continued on prednisone and hydroxychlorquine. Six months later, he noted improvement in his rash and early satiety symptoms, along with a 22-lb weight gain. His hemoglobin, CK, CRP and aldolase have also normalized. Gastrointestinal involvement is well recognized in dermatomyositis (DM) with the esophagus being affected in up to one third of the cases. Dysphagia is the most common presenting symptom due to striated muscle involvement in the upper third of the esophagus. Gastrointestinal vasculitis with ulceration and intestinal perforation is also described. Gastric dysmotility is a rare but serious manifestation of DM. Horowitz et al have reported varying degrees of gastric emptying in eight out of thirteen patients with DM. Whether they were symptomatic or asymptomatic, the degree of delayed emptying correlated with the severity of peripheral muscle weakness. This may suggest smooth muscle involvement even in the absence of gastrointestinal vasculitis. Treatment of gastrointestinal manifestations should target controlling the primary disease by using immune suppressive medications typically by using azathioprine, methotrexate or hydroxychlorquine. Our patient achieved partial control of DM and gastroparesis with IVIG and had significant weight gain on follow-up.

Juvenile dermatomyositis at a tertiary care hospital: is there any change in the last decade?

Juvenile dermatomyositis (JDM) is a rare multisystem disorder of childhood primarily involving the skeletal muscles and skin. The case records of patients with JDM seen at our centre in the last 10 years were reviewed and data on clinical presentation, management, outcome and complications were retrieved. Eighteen patients (nine boys) were diagnosed as JDM with median age at presentation of 12.5 years, duration of illness of 9.25 months and follow-up duration of 24 months. At presentation, rash was seen in all patients, 17 had muscle weakness, fever in 11 and arthritis in six. Gottron's lesions and heliotrope rash were seen in 14 and 11 patients, respectively. Calcinosis was seen in five patients and lipoatrophy in two patients. Four patients had dysphagia, one each had dilated cardiomyopathy and respiratory failure. Electromyograph was abnormal in 15 patients and antinuclear antibodies were positive in nine patients. Prednisolone and methotrexate were used in 17 patients. Other disease-modifying anti-rheumatic drugs used were hydroxychloroquine, azathioprine, cyclophosphamide and cyclosporine. Sixteen patients achieved remission. Five patients had pyogenic infections and one patient died of this. In addition two patients had tuberculosis. Compared to our experience in the previous decade we saw more girls, used methotrexate upfront but the median duration of illness and prevalence of calcinosis (30%) was the same, suggesting that we need to improve awareness about JDM among paediatricians for early referral.

Juvenile Dermatomyositis: A Case Report

Juvenile dermatomyositis is a chronic inflammatory multisystem disease that affects primarily the skin and muscle. A 5 years old girl presented with heliotrope rash, gottron's papules, and muscular weakness for one and half month. Other systemic examination revealed no abnormalities. Investigation reveals- Erythrocyte Sedimentation rate was raised, muscle enzymes were several fold elevated, skin biopsy consistent with dermatomyositis, EMG consistent with polymyositis. So confirmed diagnosis was made as Juvenile dermatomyositis (JDM). The patient was managed by systemic steroid and showed good response to treatment. DOI: http://dx.doi.org/10.3329/jssmc.v5i1.16225 J Shaheed Suhrawardy Med Coll, 2013;5(1):63-66

The Myositis Autoantibody Phenotypes of the Juvenile Idiopathic Inflammatory Myopathies

The juvenile idiopathic inflammatory myopathies (JIIM) are systemic autoimmune diseases characterized by skeletal muscle weakness, characteristic rashes, and other systemic features. In follow-up to our study defining the major clinical subgroup phenotypes of JIIM, we compared demographics, clinical features, laboratory measures, and outcomes among myositis-specific autoantibody (MSA) subgroups, as well as with published data on adult idiopathic inflammatory myopathy patients enrolled in a separate natural history study. In the present study, of 430 patients enrolled in a nationwide registry study who had serum tested for myositis autoantibodies, 374 had either a single specific MSA (n = 253) or no identified MSA (n = 121) and were the subject of the present report. Following univariate analysis, we used random forest classification and exact logistic regression modeling to compare autoantibody subgroups. Anti-p155/140 autoantibodies were the most frequent subgroup, present in 32% of patients with juvenile dermatomyositis (JDM) or overlap myositis with JDM, followed by anti-MJ autoantibodies, which were seen in 20% of JIIM patients, primarily in JDM. Other MSAs, including anti-synthetase, anti-signal recognition particle (SRP), and anti-Mi-2, were present in only 10% of JIIM patients. Features that characterized the anti-p155/140 autoantibody subgroup included Gottron papules, malar rash, “shawl-sign” rash, photosensitivity, cuticular overgrowth, lowest creatine kinase (CK) levels, and a predominantly chronic illness course. The features that differed for patients with anti-MJ antibodies included muscle cramps, dysphonia, intermediate CK levels, a high frequency of hospitalization, and a monocyclic disease course. Patients with anti-synthetase antibodies had higher frequencies of interstitial lung disease, arthralgia, and “mechanic’s hands,” and had an older age at diagnosis. The anti-SRP group, which had exclusively juvenile polymyositis, was characterized by high frequencies of black race, severe onset, distal weakness, falling episodes, Raynaud phenomenon, cardiac involvement, high CK levels, chronic disease course, frequent hospitalization, and wheelchair use. Characteristic features of the anti-Mi-2 subgroup included Hispanic ethnicity, classic dermatomyositis and malar rashes, high CK levels, and very low mortality. Finally, the most common features of patients without any currently defined MSA or myositis-associated autoantibodies included linear extensor erythema, arthralgia, and a monocyclic disease course. Several demographic and clinical features were shared between juvenile and adult idiopathic inflammatory myopathy subgroups, but with several important differences. We conclude that juvenile myositis is a heterogeneous group of illnesses with distinct autoantibody phenotypes defined by varying clinical and demographic characteristics, laboratory features, and outcomes.

AB0793 Frequency and relationships between autoantibodies and clinical features in 70 patients with autoimmune myositis in bulgarian population

BackgroundAutoimmune myositis (AIM) is a syndrome characterized by involvement of the cellular and humoral immune systems in skeletal muscle pathology, response to immunotherapies and the presence of autoantibodies (Abs) in...

AB1167 Differences and similarities in clinical manifestations and survival between adult-onset and childhood-onset patients with idiopathic inflammatory myopathies

BackgroundIdiopathic Inflammatory Myopathies (IIM) comprise an heterogeneous group of systemic diseases, with an important morbidity and mortality, depending on different age of onset.ObjectivesTo study clinical manifestations, survival and causes of...

FRI0389 First report of anti-mda5 antibodies in a cohort of italian patients with dermatomyositis: clinical and serologic correlations

BackgroundPolymyositis/dermatomyositis (PM/DM) are autoimmune diseases characterized by skin and muscle inflammation, internal organs involvement and presence of myositis-specific antibodies (MSAs). In recent years, new MSAs have been identified in association...

Infectious Tenosynovitis in a Patient with Dermatopolymyositis and Vasculitis

Flexor tendon sheath infection calls for appropriate antimicrobial and surgical therapy to overcome complications such as deep abscesses, septic arthritis, and osteomyelitis. A 33-year-old woman with dermatopolymyositis and vasculitis for 1 year was diagnosed by typical rash (heliotrope rash, Gottron’s sign), symmetric proximal muscle weakness, elevated serum skeletal muscle enzymes, electromyographic abnormalities, and interstitial lung disease. She started intravenous (IV) methylprednisolone …

AB1189 Bosentan treatment of digital ulcers in paediatric patients with scleroderma

BackgroundScleroderma is a connective tissue disorder that is associated with changes in the skin and sometimes in internal organs. Digital ulcers in these patients can be difficult to treat and...

AB0508 Clinically amiopathic dermatomyositis: comparison with classical dermatomyositis and description of clinical outcome

BackgroundClinically amiopathic dermatomyositis (CADM) is characterized by the presence of dermatological features similar to DM without clinical signs of muscular involvement. CADM is further distinguishable in amiopathical DM (ADM) and...

AB0239 Autoantibody profile in a cohort of adult patients with inflammatory myophaties

BackgroundSpecific autoantibodies in patients with polymyositis/dermatomyositis (PM/DM) are associated with unique subsets, and they are useful in monitoring clinical course and predicting outcome.Objectivesto analyze the prevalence of myositis specific antibodies...

AB1145 Case report: Raynaud’s phenomenon with oral manifestation in a child presenting mixed connective tissue disease

BackgroundRaynaud’s phenomenon is a symptom complex characterized by episodes of pallor or cyanosis with tingling of the peripheral extremities, particularly the finger and toes that is caused by a vasospasm...

Dermatomyosite et pneumopathie interstitielle rapidement évolutive associées aux auto-anticorps anti-MDA-5 : une présentation clinique atypique

A new antibody known as anti-MDA-5 has recently been identified in association with a specific phenotype of dermatomyositis (DM), in which muscular involvement is minimal or absent, but where there is a particularly high risk of onset of aggressive interstitial lung disease. Below, we report a case associated with the presence of anti-MDA-5 antibodies complicated by aggressive interstitial lung disease ; the cutaneous phenotype of this patient is novel due to the constitution of diffuse ichthyosis and of profuse subcutaneous calcinosis. A 35-year-old man was hospitalised for a skin rash associated with arthralgia, dry cough, asthenia and weight-loss of 8 kg in 5 months. The dermatological examination revealed purple erythema of the upper eyelids and cheeks, diffuse acquired ichthyosis of the trunk and limbs, and striated erythema on the proximal and distal metacarpal and interphalangeal joints of the fingers. A diagnosis of DM was suspected in patients treated with prednisolone, 1.5 mg/kg/d. Immunological tests identified the presence of anti-MDA-5 antibodies. One month later, the cutaneous signs continued to progress and were marked by the development of painful ulcers on the back of the fingers, as well as dyspnoea accompanying the slightest effort. Chest images showed constituted pulmonary fibrosis lesions. At the same time, within several months, diffuse, pseudo-tumoural calcifications developed in the subcutaneous tissue of the trunk and limbs. The patient was treated successively with intravenous gammaglobulins, cyclophosphamide, mycophenolate mofetil, azathioprine and rituximab in combination with oral corticosteroids, but with no improvement in respiratory function or in the skin lesions. Because of the decline in the patient's respiratory status, a lung graft was envisaged but subsequently abandoned because of the patient's excessively precarious state of health. Anti-MDA-5 antibody appears to constitute a specific immunological marker for a special dermatological phenotype of adult DM, significantly associated with the presence of: 1) keratotic papules in the skin folds of the palms and fingers ; 2) cutaneous ulcers along the periungueal edges, Gottron's papules on the back of the hands and on the extensor surface of the elbows and knees ; 3) pain and ulceration in the oral mucosa, diffuse alopecia, and appearance of "mechanic's hands" and Gottron's sign on the elbows and knees. To our knowledge, the presence of extensive ichthyosis and profuse subcutaneous calcinosis has not been previously reported in this particular form of DM. The risk of aggressive interstitial lung disease is particularly high and worsens the prognosis, since 40% of patients with anti-MDA-5 die, usually within the first year. Herein, we describe a patient presenting amyopathic DM complicated by aggressive interstitial lung disease associated with the presence of anti-MDA-5 antibodies, but with a hitherto unreported cutaneous phenotype combining diffuse ichthyosis and profuse subcutaneous calcinosis.

Case report of anti‐transcription intermediary factor‐1‐γ/α antibody‐positive dermatomyositis associated with gastric cancer and immunoglobulin G4‐positive pulmonary inflammatory pseudotumor

Dermatomyositis is a rare connective tissue disease often associated with internal malignancy and interstitial pneumonitis. Serologically, various auto-antibodies (Ab) are associated with dermatomyositis. Anti-transcription intermediary factor-1-γ/α (TIF-1-γ/α) Ab was recently identified as an auto-Ab and was observed mostly in cancer-associated dermatomyositis. IgG4-related disease is a newly described entity characterized by increased serum IgG4 levels and IgG4-positive plasma cell infiltration with fibrosis in organs such as the pancreas and parotid gland. IgG4-related disease also includes inflammatory pseudotumors in various organs. We report herein a 59-year-old Japanese man who had dermatomyositis complicated with a gastric cancer and an IgG4-related pulmonary inflammatory pseudotumor. He manifested typical classical Gottron's papules on the fingers, V-sign erythema on the chest, flagellate erythema on the back, nail fold bleeding and facial erythema. Serum levels of anti-TIF-1-γ/α Ab were positive as assessed by immunoprecipitation assay. He also had bilateral swelling of the parotid gland, and an excised specimen of the lung showed inflammatory pseudotumor with IgG4-positive plasma cells. As far as we know, this case is the first to report the association of IgG4-related disease and TIF-1-γ/α-positive dermatomyositis. Further accumulation of such cases is required to elucidate the mechanism of this association.

Common and Distinct Clinical Features in Adult Patients with Anti-Aminoacyl-tRNA Synthetase Antibodies: Heterogeneity within the Syndrome

ObjectiveTo identify similarities and differences in the clinical features of adult Japanese patients with individual anti-aminoacyl-tRNA synthetase antibodies (anti-ARS Abs).MethodsThis was a retrospective analysis of 166 adult Japanese patients with anti-ARS Abs detected by immunoprecipitation assays. These patients had visited Kanazawa University Hospital or collaborating medical centers from 2003 to 2009.ResultsAnti-ARS Ab specificity included anti-Jo-1 (36%), anti-EJ (23%), anti-PL-7 (18%), anti-PL-12 (11%), anti-KS (8%), and anti-OJ (5%). These anti-ARS Abs were mutually exclusive, except for one serum Ab that had both anti-PL-7 and PL-12 reactivity. Myositis was closely associated with anti-Jo-1, anti-EJ, and anti-PL-7, while interstitial lung disease (ILD) was correlated with all 6 anti-ARS Abs. Dermatomyositis (DM)-specific skin manifestations (heliotrope rash and Gottron’s sign) were frequently observed in patients with anti-Jo-1, anti-EJ, anti-PL-7, and anti-PL-12. Therefore, most clinical diagnoses were polymyositis or DM for anti-Jo-1, anti-EJ, and anti-PL-7; clinically amyopathic DM or ILD for anti-PL-12; and ILD for anti-KS and anti-OJ. Patients with anti-Jo-1, anti-EJ, and anti-PL-7 developed myositis later if they had ILD alone at the time of disease onset, and most patients with anti-ARS Abs eventually developed ILD if they did not have ILD at disease onset.ConclusionPatients with anti-ARS Abs are relatively homogeneous. However, the distribution and timing of myositis, ILD, and rashes differ among patients with individual anti-ARS Abs. Thus, identification of individual anti-ARS Abs is beneficial to define this rather homogeneous subset and to predict clinical outcomes within the “anti-synthetase syndrome.”

Down-regulation of miR-223 contributes to the formation of Gottron's papules in dermatomyositis via the induction of PKCε

Dermatomyositis (DM) is characterized by skin manifestations accompanying and preceding muscle weakness. Gottron's papules, one of the skin manifestations, are of great diagnostic value because they are specific to DM. However, the pathogenesis of Gottron's papules remains unclear. We investigated the expression pattern of miRNAs in Gottron's papules of DM patients and evaluated the possibility that miRNAs play a role in its pathogenesis. miRNAs were extracted from skin tissues and sera of patients with DM, clinically amyopathic DM (CADM) and healthy controls. To identify pathogenic miRNAs, we performed miRNA PCR array analysis. The results were confirmed by in situ hybridization, immunohistochemistry, immunoblotting and transient transfection of siRNAs or miRNA inhibitors. PCR array analysis using tissue miRNAs demonstrated the miR-223 level was markedly decreased in Gottron's papules of DM and CADM in vivo, but not in psoriasis skin. The protein expression of PKCɛ, a predicted target of miR-223, was increased in DM/CADM skin. The transfection of a specific inhibitor of miR-223 in keratinocytes led to up-regulation of the PKCɛ protein, and resulted in increased cell proliferation. On the other hand, cell numbers were significantly decreased when cells were transfected with siRNA for PKCɛ. The serum miR-223 concentration was decreased in DM/PM patients, particularly in CADM patients, compared with healthy controls. A decreased miR-223 expression and the subsequently increased PKCɛ levels may therefore play a key role in the pathogenesis of Gottron's papules.

Chronic Nonbacterial Osteomyelitis in a Child with Previous Juvenile Dermatomyositis

To the Editor: Chronic nonbacterial osteomyelitis (CNO) is a sterile osteitis of unknown etiology. The diagnosis is based on characteristic clinical, laboratory, and imaging features1. Currently, CNO is considered an autoinflammatory disorder. However, the association of CNO with inflammatory bowel diseases2, psoriasis3, and vasculitis suggests that both innate and adaptive immunity may contribute to pathogenesis. A 3-year-old girl presented with proximal muscle weakness, Gottron papules, and periorbital heliotrope rash. Erythrocyte sedimentation rate (ESR) was 30 mm/h (normal 0–12 mm/h); creatine kinase, aspartate aminotransferase, and lactate dehydrogenase were normal. Antinuclear autoantibody (ANA) titers were 1:320; antibodies against Jo-1, ribonuclear proteins, Smith, Ro, La, Scl-70, and double-stranded DNA were not detected. Muscle biopsy result was consistent with dermatomyositis. She was started on oral corticosteroids 1.5 mg/kg/day and methotrexate 0.5 mg/kg weekly. After 9 months, muscle strength normalized and treatment was discontinued. Family history revealed that her brother and maternal grandmother had psoriasis and a paternal uncle was diagnosed with Crohn disease (Figure 1). Figure 1. The family history of a child with chronic recurrent nonbacterial osteomyelitis and previous … Address correspondence to Dr. R.M. Laxer, Division of Rheumatology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. E-mail: ronald.laxer{at}sickkids.ca

Clinical analysis of 50 children with juvenile dermatomyositis

Objective We performed a retrospective review of medical records to assess the clinical characteristics of 50 Japanese children with juvenile dermatomyositis (JDM).Methods Fourteen boys and 36 girls who visited Yokohama City University Hospital between 1983 and 2008 were enrolled. Gender, age at disease onset and diagnosis, presenting clinical features, laboratory data at onset, complications, treatment, and outcome were reviewed.Results Mean age at disease onset was 6.9 years. Clinical manifestations at the first visit were muscle pain and/or weakness (90 %), malar rash (90 %), Gottron’s papules (86 %), and heliotrope rash (80.0 %). Elevated serum levels of creatine kinase were found in 57.0 % of patients and aldolase in 95 %. T2-weighted magnetic resonance (MR) images with fat suppression demonstrated positive findings in 89.5 % of patients. Initial treatment was prednisolone (PSL) orally or pulsed methylprednisolone (mPSL) i.v. Pulsed mPSL therapy showed efficacy superior to PSL [flare in 8 of 19 (42 %) vs. 18 of 25 (72 %)]. Children refractory to initial treatment were given additional pulsed mPSL and/or cyclophosphamide (IVCY; n = 19) i.v.. Four patients with interstitial pneumonia responded well to IVCY.Conclusions Our findings support the notion that JDM might be considered as both a systemic inflammatory and noninflammatory vasculopathy best treated by IVCY, as shown in previous literature.