[Juvenile dermatomyositis: A series of 22 cases]. / Dermatomyosite de l'enfant. Série descriptive de 22 cas.

PURPOSE: To report on the characteristics of juvenile dermatomyositis (JDM). PATIENTS AND METHODS: This was a retrospective, descriptive, cross-sectional, non-interventional, multicenter study conducted in Alsace between 2000 and 2015. The patients, aged 0 to 16years, had JDM according to both the Bohan and Peter and the EULAR/ACR criteria. RESULTS: A total of 17 girls and 5 boys were included with a median age at disease onset of 7,8years (Q1-Q3: 4.4-12.9). Median duration of JDM and median patient follow-up were 2.8years and 6.2years, respectively. The most common skin symptoms were papules or Gottron's sign (86 %), nail lesions (82 %), erythema of the face (77 %) and eyelids (59 %), photosensitivity (59 %), and calcinosis (27 %). One patient presented papules with a depressed and porcelain-white center ("Degos-like" lesions). One patient had algodystrophy. Two patients were clinically amyopathic. One girl had intestinal vasculitis. Respiratory function tests were abnormal in 27 % of cases. Median treatment duration was 42 months (Q1-Q3: 19-63). Three patients had a monocyclic form, 12 had a polycyclic form, and 7 had chronic disease. CONCLUSION: The frequency of cutaneous and musculoskeletal signs is comparable to that of other large cohorts of JDM. "Degos-like" lesions and algodystrophy have not yet been described in JDM. This study highlights the type and extent of the dermatological manifestations that frequently constitute the presenting complaint in this disease.

Orbital myositis in a patient with Crohn's disease: A case report of two episodes.

PURPOSE: To describe a case report of a 34 years-old patient with Crohn's Disease and two episodes of Ocular Myositis. METHODS: The research methodology employed in this study consisted of a retrospective review of the patient's complete medical history. RESULTS: Crohn's Disease is a chronic inflammatory bowel disorder known to be associated with a wide range of extraintestinal manifestations. Ocular abnormalities, such as episcleritis and uveitis, are commonly observed. However, orbital myositis is an extremely rare ocular extraintestinal manifestations characterized by acute ocular pain that worsens with eye movements and is often accompanied by diplopia. In this case report, we present the case of a 34-year-old woman with a confirmed diagnosis of Crohn's Disease, who experienced two episodes of acute orbital pain exacerbated by ocular movements and diplopia. The diagnosis was established through clinical evaluation and radiologic imaging, with confirmation after a good response to systemic corticosteroids. She responded favorably to systemic corticosteroid therapy on both episodes, and no additional treatment was required. As of now, she remains stable without any ocular sequelae. CONCLUSION: It is important to note that orbital myositis is an uncommon ocular manifestation associated with Crohn's Disease, and prompt recognition and management are crucial to achieve successful outcomes.

Myonecrosis as a rare side effect of stereotactic body radiotherapy for bone metastases: Report of two cases and a comprehensive literature review.

Stereotactic body radiotherapy is a highly effective form of radiation therapy for palliation of bone metastases, but it can also lead to rare but severe side effects, such as myonecrosis. According to the literature, the incidence of myonecrosis after stereotactic body radiotherapy is low and mostly dose dependent. It is crucial to consider the potential impact of immunotherapy and other systemic therapies in the assessment. The course of radiation myonecrosis can vary, and corticosteroids or vascular endothelial growth factor inhibitors may potentially play a role in its treatment. Herein, we report two patients presenting with myonecrosis after stereotactic body radiotherapy for bone metastasis.

[Usefulness of autoantibodies for the diagnosis of autoimmune myopathies]. / Apport des auto-anticorps au cours des myopathies auto-immunes.

INTRODUCTION: Idiopathic myopathies are a group of acquired muscular diseases considered as autoimmune disorders. Characteristic histopathologic features allow the classification into myositis (polymyositis, dermatomyositis, and inclusion body myositis) and immune-mediated necrotizing myopathies. But overlapping histological features may be observed between different idiopathic myopathies and even between acquired and genetic muscular diseases. In the group of idiopathic myopathies important discrepancies can be observed concerning extra-muscular involvement and prognosis. STATE OF ART: The discovery of myositis-specific antibodies and myositis-associated antibodies has led to a serologic approach complementary to histological classification, because striking associations of myositis-specific antibodies with clinical features and survival were observed. Here we reviewed the myositis-specific antibodies including autoantibodies directed against the aminoacyl tRNA-synthetase enzymes, the Mi-2 protein and the signal recognition particle, and the main myositis-associated autoantibodies, that can be tested in clinical practice. PERSPECTIVES: We will also focus on newly described dermatomyositis-associated antibodies (directed against: transcription intermediary factor 1 family proteins, small ubiquitin-like modifier activating enzyme, and melanoma differentiation-associated gene 5), and immune-mediated necrotizing myopathy-associated antibodies (directed against HMGcoA-reductase). CONCLUSION: Myositis-specific antibodies and myositis-associated antibodies are useful for the diagnosis of forms of autoimmune myopathies with distinct clinical features. They may help to define patients into clinical syndromes with specific outcomes and thus influence treatment strategies.

[Profiles of autoimmune myositis with or without pulmonary involvement: A retrospective single-center study of 40 patients]. / Profils des myosites auto-immunes avec ou sans atteinte pulmonaire : une étude monocentrique rétrospective de 40 patients.

INTRODUCTION: Idiopathic inflammatory myopathies (IMM) are rare diseases with clinico-biological heterogeneity. Pulmonary involvement is frequent and associated with some distinctive manifestations. The aim of this study was to describe the clinico-biological profile of patients with autoimmune myositis with and without pulmonary involvement. METHODS: This retrospective descriptive study included patients with idiopathic inflammatory myopathies and a positive antibody test performed at Grenoble Alpes University Hospital between 2010 and 2020. RESULTS: Forty patients were included, the majority were women. The anti-Jo1 autoantibody was the most frequently found (37.5%). The prevalence of pulmonary involvement was 70%. Mechanics' hands and Raynaud's syndrome were the extra-respiratory signs significantly more present in the group with lung involvement (P <0.05), in contrast to creatine kinase levels which were lower in this group (P <0.05). Glucocorticoids and rituximab were significantly more often used in the group with lung involvement (P <0.05). The 5-year survival rate was 76.2% in patients with lung involvement and 100% in patients without lung involvement (P=0.50). CONCLUSION: We report a high prevalence of lung involvement probably explained by the presence of many patients with anti-synthetase syndrome. Our study highlights a lower severity of muscle involvement in myositis patients with lung disease, which deserves to be confirmed in a larger study.

Pheochromocytoma presenting as an authentic small vessel vasculitis and complicated with pulmonary embolism: An original presentation.

Diagnosis of pheochromocytoma can be simple when classic manifestations are present. It can also be challenging and complicated in some cases because of its wide array of faces and presentations. We present a case of a 30-year-old female patient who came with acute respiratory distress, chest pain, hemoptysis, asthenia, anorexia, weight loss of 20kg, and paresthesia in her lower limbs. Clinical examination found high blood pressure, accelerated heart and respiratory rates, signs of acute right heart failure with jugular venous distention and ankle edema, reticularis livedo in the four limbs, ulcers in both knees and in the 3rd metacarpo-phalangeal articulations and necrotic lesions in both calcaneal tendons and in the right toes. Further investigations concluded on myocarditis associated with alveolar hemorrhage, pericardic and pleuritic effusions and a segmental pulmonary embolism of the right inferior lobe. Neuro-muscular biopsy was suggestive of myositis. Cutaneous biopsy found nonspecific chronic dermatitis. ANCA antibodies were tested twice and were negative. Cryoglobulinemia was also negative. Thoraco-abdomino-pelvic scan was performed showing a large right adrenal mass suggestive of pheochromocytoma. Diagnosis of right adrenal pheochromocytoma was confirmed by MIBG-I123 hyperfixation findings and urinary normetanephrin levels. The patient was treated surgically. Postoperative outcomes were remarkably favorable with a complete regression of the cutaneous lesions and normalization of the blood pressure. Paresthesia significantly decreased. Control echocardiography at 3 months showed an improved heart function with a persistent apical and septal akinesis.

[Myositis: From classification to diagnosis]. / Myosites : de la classification au diagnostic.

Idiopathic inflammatory myopathies, or IIM, are a group of acquired diseases that affect the muscle to a certain extent, and may also affect other organs. They include dermatomyositis, which can affect the muscle eventualy, with a typical skin rash; inclusion body myositis, with a purely muscular expression resulting in a slow progressive deficit; and the former group of "polymyositis", a misnomer that actually includes other categories of IIM, such as immune-mediated necrotizing myopathies, with a severe muscle involvement often presents from the onset of the disease; antisynthetase syndrome, which combines muscle damage, joint involvement and a potentially life-threatening lung disease; and overlapping myositis, which combines muscle damage with other organs involvement connected to another autoimmune disease. The diagnosis of IIM is based on rigorous clinical examination and interrogation, electromyographic data and immunological testing for myositis specific antibodies. This antibody dosage must be extended or repeated if necessary to classify correctly the muscle disease under investigation, as the available tests may not perform well enough. Muscle biopsy, although very informative, is not anymore systematically recommended when the clinic and the antibodies are typical. However, some forms of IIM are sometimes difficult to classify; in these cases, muscle biopsy plays a crucial role in the precise etiological diagnosis.

[Infectious myositis]. / Myosites infectieuses.

Infectious myositis is a rare condition that can be caused by bacteria, viruses, parasites or fungi. Muscle pain or weakness are symptoms shared by all type of myositis. Diagnosis is made on clinical presentation: fever and poor general state is found in bacterial myositis, diffuse muscle pain with flu-like symptoms in viral causes, eosinophilia and a tropical travel history can be related to parasitic etiology, and immunocompromising condition suggests fungal infection. Rhabdomyolysis, leukocytosis and elevated C-reactive protein are common. Imaging (computed tomography or magnetic resonance imaging) can be useful to detect which muscle is affected. The causative organism can be identified on blood cultures, skeletal muscle biopsy, serology or any other pathogen specific test. Treatment depends on the causative organism. Open surgical or imaging-guided drainage is usually necessary in bacterial myositis.

[Rhabdomyolysis in patients treated by corticosteroids for acute asthma in intensive care unit]. / La corticothérapie, une cause de rhabdomyolyse chez les asthmatiques en réanimation.

INTRODUCTION: Acute muscle involvement is an infrequent complication of corticosteroids, characterized by muscle weakness and a rhabdomyolysis, rapidly regressive after withdrawal of corticosteroids. CASE REPORT: We report the case of a woman admitted in intensive care unit for acute severe asthma, treated with high doses of methylprednisolone. Serum CPK level raised with a peak at 28,160 UI/L (n<250 UI/L) at day 15, suggesting acute rhabdomyolysis with renal failure. CPK rapidly normalized when corticosteroids were discontinued. Other causes of rhabdomyolysis were ruled out. CONCLUSION: This necrosing myopathy under high doses of corticosteroids has been described in patients with severe acute asthma. The mechanism of the muscle damage results from a combination of corticosteroids toxicity, respiratory acidosis and mechanic ventilation.

[Focal myositis: An unknown disease]. / Myosite focale : une maladie méconnue.

Focal myositis are inflammatory muscle diseases of unknown origin. At the opposite from the other idiopathic inflammatory myopathies, they are restricted to a single muscle or to a muscle group. They are not associated with extramuscular manifestations, and they have a good prognosis without any treatment. They are characterized by a localized swelling affecting mostly lower limbs. The pseudo-tumor can be painful, but is not associated with a muscle weakness. Creatine kinase level is normal. Muscle MRI shows an inflammation restricted to a muscle or a muscle group. Muscle biopsy and pathological analysis remain necessary for the diagnosis, showing inflammatory infiltrates composed by macrophages and lymphocytes without any specific distribution within the muscle. Focal overexpression of HLA-1 by the muscle fibers is frequently observed. The muscle biopsy permits to rule out differential diagnosis such a malignancy (sarcoma). Spontaneous remission occurs within weeks or months after the first symptoms, relapse is unusual.

[Unexpected adverse events of immunotherapies in non-small cell lung cancer: About 2 cases]. / Effets secondaires inhabituels des immunothérapies dans le cancer bronchique non à petites cellules : à propos de deux cas.

Programmed death receptor 1 (PD1) checkpoint inhibitors are known for immune mediated toxicities such as colitis, endocrinopathies and pneumonitis. However, other rare adverse effects are reported in the literature. Nivolumab is an anti-PD1 immunotherapy used in the second line of non-small cell lung cancer (NSCLC). We report two cases of rare toxicities occurring under nivolumab in patients without a history of dysimmunity. A 79-year-old patient with a large-cell carcinoma showed a muscle weakness after the second course, revealing myositis with a CPK grade IV elevation as well as symptoms of myasthenia. The diagnosis of myositis was confirmed by a muscle biopsy. An 82-year-old patient followed for bronchial adenocarcinoma with EGFR mutation, presented with nivolumab shoulder and hip pain with extreme fatigue. After further investigations, the diagnosis of systemic erythematosus lupus was retained. Investigations led to the diagnosis of systemic lupus erythematosus. For both patients treatment was interrupted and systemic corticosteroid therapy was initiated permitting resolution of symptoms. The occurrence of symptoms of dysimmunity should attract the attention of the clinician, leading to discontinuation of anti-PD1 therapy and corticosteroid therapy. Retreatment after symptoms resolution must be collegially discussed if no alternative therapeutic is available.

[Pulmonary manifestations of antisynthetase syndrome]. / Les manifestations pulmonaires du syndrome des antisynthétases.

Antisynthetase syndrome is an inflammatory myopathy frequently associated with pulmonary manifestations, especially interstitial lung diseases, and uncommonly pulmonary hypertension. In the context of a suggestive clinical and radiological picture, positive anti-RNA synthetase antibodies confirm the diagnosis. Anti-Jo1, anti-PL7, and anti-PL12 antibodies are the more commonly encountered. The presence of a number of extra-thoracic manifestations in association with pulmonary disease may suggest the diagnosis. These include: myalgia or muscular deficit, Raynaud's phenomenon, polyarthritis, fever, mechanics hands. Serum creatine kinase levels are usually increased. Electromyogram, muscular magnetic resonance imaging or muscle pathology are not mandatory to make the diagnosis. There is a high variability in symptoms and severity, between patients but also during the course of the disease in the same patient. The presence of an interstitial lung disease is a major prognostic factor and an indication for more intensive treatment, principally with systemic corticosteroids with or without immunosuppressive drugs. Improving respiratory physicians' knowledge of this disease, which is often revealed by its pulmonary manifestations, should help diagnosis, therapeutic management, and possibly prognosis.

[Autoantibody profile in myositis]. / Auto-anticorps au cours des myosites.

Patients suffering from muscular symptoms or with an increase of creatine kinase levels may present a myopathy. In such situations, clinicians have to confirm the existence of a myopathy and determine if it is an acquired or a genetic muscular disease. In the presence of an acquired myopathy after having ruled out an infectious, a toxic agent or an endocrine cause, physicians must identify which type of idiopathic myopathy the patient is presenting: either a myositis including polymyositis, dermatomyositis, and inclusion body myositis, or an immune-mediated necrotizing myopathy. Histopathology examination of a muscle biopsy is determinant but detection of autoantibody is now also crucial. The myositis-specific antibodies and myositis-associated antibodies lead to a serologic approach complementary to the histological classification, because strong associations of myositis-specific antibodies with clinical features and survival have been documented. The presence of anti-synthetase antibodies is associated with an original histopathologic pattern between polymyositis and dermatomyositis, and defines a syndrome where interstitial lung disease drives the prognosis. Anti-MDA-5 antibody are specifically associated with dermatomyositis, and define a skin-lung syndrome with a frequent severe disease course. Anti-TIF1-γ is also associated with dermatomyositis but its presence is frequently predictive of a cancer association whereas anti-MI2 is associated with the classical dermatomyositis. Two specific antibodies, anti-SRP and anti-HMGCR, are observed in patients with immune-mediated necrotizing myopathies and may be very useful to distinguish acquired myopathies from dystrophic muscular diseases in case of a slow onset and to allow the initiation of effective therapy.

[Inclusion-body myositis]. / La myosite à inclusions.

Sporadic inclusion-body myositis (sIBM) presents in average at the sixth decade of life and affects three men for one woman. It is a non-lethal, slowly progressive but disabling disease. Except the striated muscles, no other organs (such as the interstitial lung) are involved. The phenotype of this myopathy is particular since it involves the axial muscles (camptocormia, swallowing dysfunction) and limb girdle (notably the quadriceps) but also the distal muscles (in particular the fingers' and wrists' flexors) in a bilateral but non-symmetrical manner. The clinical presentation is then very suggestive of the diagnosis, which remains to be proven by a muscle biopsy. Histological features defining the diagnosis associate endomysial inflammatory infiltrates with frequent invaded fibres (the myositis) and amyloid deposits generally accompanying rimmed vacuoles (the inclusions). There is still today a debate to know if this disease is at its beginning a degenerative or an auto-immune condition. Nonetheless, usual immunosuppressive drugs (corticosteroids, azathioprine, methotrexate) or polyvalent immunoglobulines remain ineffective and even may worsen the handicap. Some controlled randomized trials will soon be launched for this condition, but for now, the best therapeutic approach to slow down the rapidity of progression of the disease is to maintain muscle exercise with the help of the physiotherapists.

[Clinical phenotypes and prognosis of antisynthetase syndrome]. / Phénotypes cliniques et pronostic du syndrome des antisynthétases.

Antisynthetase syndrome (ASS) was first described in 1989 as an inflammatory myopathy associated with the presence of specific auto-antibodies, namely the anti-tRNA-synthetase antibodies (ASA). To date, the ASA family comprises eight different auto-antibodies, among which anti-hystidyl-tRNA-synthetase (anti-Jo1) is the most prevalent. In addition to myositis, a constellation of clinical features has also been described in ASS, including interstitial lung disease, Raynaud's phenomenon, polyarthritis, fever and mechanic's hands. Large variations in the distribution and the severity of each of these symptoms are reported from one patient to another, and also over the course of the disease. The heterogeneity of this autoimmune connective tissue disease has led to difficulties in the early identification of patients with a poor outcome (those who will require the most intensive treatments). Additionally, very few prospective trials have so far compared the efficacy of the different immunosuppressive drugs available, and evidence is lacking to help adapting therapeutic strategies to all of the different ASS clinical situations. We will review the different characteristics of ASS (namely biological, clinical, functional, and morphological ASS parameters) that have recently been shown to correlate with patients' outcome, our aim being to discuss the usefulness of patient stratification for elaborating targeted therapeutic trials for ASS in the future.

[Thrombocytopenia purpura, myositis and cytolitic hepatitis: a rare association linked with atorvastatin]. / Purpura thrombopenique, myosite et hepatite cytolytique : une association rare d'incidents lies a l'atorvastatine.

Statins are generally well tolerated molecules. However, some cases have seen potentially lifethreatening consequences. We report a case of a 70-year-old woman with high blood pressure who was treating hypercholesterolemia by atorvastatin. Two weeks after beginning this new treatment, the patient developed muscular weakness in all four limbs with myalgias; and a purpura in the upper limbs and abdomen. A biological study revealed the presence of severe thrombocytopenia, myolysis and cytolytic hepatitis. Stopping the atorvastatin intake resulted in an improved situation within twenty days. This suggests that the medical anomalies found in the patient were drug-induced. The literature confirms the rarity of this association. The severity of some side effects of statins should remain in the minds of medicine prescribers.

Les statines sont des molécules généralement bien tolérées. Des accidents pouvant mettre en jeu le pronostic vital peuvent survenir avec leur utilisation. Nous rapportons l'observation d'une patiente de 70 ans hypertendue, chez qui l'on a découvert une hypercholestérolémie traitée par atorvastatine. Deux semaines après ce nouveau traitement sont apparus une faiblesse musculaire des quatre membres avec des myalgies; et un purpura aux membres supérieurs et à l'abdomen. La biologie révélait une thrombopénie sévère, une myolyse et une hépatite cytolytique. L'arrêt de l'atorvastatine a permis une évolution favorable en vingt jours. Cela suggère l'origine médicamenteuse des anomalies constatées. Les données de la littérature confirment la rareté de cette association. La gravité de certains effets secondaires des statines doivent rester à l'esprit des médecins prescripteurs.

[Clinical features and management of acute myositis in idiopathic orbital inflammation]. / Présentation clinique et prise en charge des myosites aiguës dans les inflammations orbitaires non spécifiques.

Acute myositis is the second most common component of non-specific orbital inflammation. We will describe its clinical features and natural history. This is a retrospective study of 10 cases. The diagnosis of acute myositis was based on clinical and imaging criteria. Our study includes five men and five women. The average age was 35.8 years (17-59 years). Clinical symptoms were: pain increased on eye movement (10/10), diplopia (4/10), proptosis (6/10), visual loss (3/10), lid edema (6/10), conjunctival hyperemia (7/10), anterior scleritis (2/10), episcleritis (2/10), chemosis (4/10), upper lid retraction (1/10), limitation of eye movement (3/10), fundus abnormalities (2/10). Imaging showed thickening of one or more extraocular muscles (10/10). Recovery was complete with anti-inflammatory therapy in six patients. Three patients experienced recurrence, and one patient had a clinical rebound upon tapering the treatment. Acute myositis can be defined by pain on eye movement, signs of inflammation, and extraocular muscle thickening on imaging. If the clinical presentation is typical, histopathological analysis can be deferred but remains necessary in cases of poor response to treatment, chronic duration or suspicion of tumor infiltration. The diagnosis of acute myositis may be suspected in the presence of consistent, well-defined clinical signs. Contiguous inflammation is often associated. Treatment is based on steroids or non-steroidal treatment anti-inflammatory therapy, administered alone or consecutively. Recurrences are frequent but do not alter the final prognosis.

Presentación atípica de una metástasis ósea del pulmón / Présentation atypique d'une métastase osseuse de poumon / Unusual occurrence of osseous metastasis of the lung

Se presenta un paciente masculino de 49 años con antecedentes de Neoplasia de pulmón el cual acude por dolor y aumento de volumen en el miembro inferior izquierdo. Los estudios imaginológicos (radiografías, tomografía computarizada, gammagrafía) sugerían una miositis osificante del tercio medio de la diáfisis femoral izquierda, debido al compromiso de partes blandas, ya que es poco frecuente visualizarlo como una metástasis, pero el diagnóstico histopatológico fue el de una lesión metastásica(AU)

Here is the case of a 49 years-old male patient with a history of lung neoplasia that went to the doctor's because of pain and inflammation of his left leg. Imaging studies including X-rays, CT and scintigraphy indicated ossifying myositis in the medial third of the left femoral diaphysis due to compromised soft tissues, but the histopathological diagnosis showed a metastatic injure(AU)

Un patient âgé de 49 ans, avec des antécédents de néoplasie de poumon, est vu en consultation due à une douleur et à un grossissement du membre inférieur gauche. L'imagerie (radiographie, tomographie axiale informatisée, scintigraphie) a suggéré une myosite ossifiante au niveau du tiers moyen de la diaphyse fémorale gauche due à une lésion des parties molles. Puisque la métastase est difficile à distinguer, un test histologique a confirmé la lésion métastatique(AU)