A rare complication of generalized edema in juvenile dermatomyositis: a report of one case

Juvenile dermatomyositis (JDM) is a rare autoimmune disease characterized by inflammation of the muscle, connective tissue, skin, gastrointestinal tract and small nerves. Periorbital and facial edema may also be associated. Although localized edema is a common feature of juvenile dermatomyositis, generalized edema has been reported rarely. In this article, we report a 14-year-old boy with juvenile dermatomyositis presenting with generalized edema. Of the diagnostic criteria of JDM, severe symmetric weakness of the proximal musculature, characteristic cutaneous changes, elevated serum muscle enzymes and myopathic electromyographic abnormalities were observed. Magnetic resonance imaging (MRI) of the lower extremities and pelvis showed marked diffuse edema in the subcutaneous tissue, muscles and myofascia. We suggest that MRI findings, which are not among the diagnostic criteria, may also be included in the diagnostic criteria of JDM. To the best of our knowledge, this is the 19th case of JDM reported for generalized edema in the English literature.     

Limb edema and anasarca associated with severe dermatomyositis: report of four cases

Dermatomyositis is an autoimmune disorder that causes proximal muscle weakness and skin changes which include generalized erythema, heliotrope rash and/or Gottron’s papules. Generalized or limb edema is an uncommon manifestation of dermatomyositis. Here, we report four cases who presented with generalized or limb edema, proximal muscle weakness, erythematous skin rash and/or dysphagia. Muscle biopsy revealed perifascicular fiber atrophy, a characteristic finding of dermatomyositis. The absence of other causes indicated that the generalized or limb edema was caused by dermatomyositis. None of our patients showed significant improvement with steroids alone, and more aggressive immunotherapy eventually resolved the edema. We concluded that generalized or limb edema may be a hallmark of a severe form of dermatomyositis and requires prompt and aggressive therapies.     

Idiopathic inflammatory myopathies in childhood: a brief review of 27 cases

The most common idiopathic inflammatory myopathies in children include juvenile dermatomyositis, juvenile polymyositis, and myositis associated with another autoimmune disease (overlap myositis). Idiopathic inflammatory myopathies manifest different characteristics affecting children. Only a few investigations of childhood idiopathic inflammatory myopathies were reported, involving 27 patients. In addition, clinical findings, serum muscular enzyme levels, results of electromyography studies, muscle biopsy features, and treatment responses were studied. Seventeen female and 10 male were classified as exhibiting juvenile dermatomyositis (n = 19), juvenile polymyositis (n = 6), or overlap myositis (n = 2). Overlap myositis was associated with systemic sclerosis and systemic erythematous lupus. The mean age at onset was 6.1 years for juvenile dermatomyositis, 4.9 years for juvenile polymyositis, and 8.5 years for overlap myositis. The most common signs included proximal weakness and myalgia. The serum creatine kinase level was increased in 48.2% of patients. An electromyography study revealed myopathic features in 85% of patients. Muscle biopsies led to observations of inflammatory infiltrates with preferential perivascular involvement in the juvenile dermatomyositis group, and endomysial involvement in the juvenile polymyositis group. Fiber atrophy was predominantly perifascicular in the juvenile dermatomyositis group. Treatment with prednisone improved the findings in 81.5% of children.     

Dermatomyositis in two siblings and a brief review of familial dermatomyositis

Juvenile dermatomyositis is an uncommon autoimmune disease with classic heliotrope discoloration of the eyelids, erythematous skin rash of joints, and proximal muscle weakness. It is most frequently sporadic and only rarely familial. We present juvenile dermatomyositis in a 5-year-old brother and a 3 1/2-year-old sister, both are very responsive to corticosteroids. Familial dermatomyositis can occur in different family members, and even dermatomyositis and polymyositis can coexist in the same family.     

青少年型皮肌炎的病理特点(附6例报告)

目的 探讨青少年型皮肌炎的皮肤和骨骼肌微血管病理改变规律。方法 6例患儿的发病年龄在7～14岁之间，主要表现为急性或亚急性起病的四肢肌肉无力，伴随面部和颈部皮肤水纹样皮疹。对所有患者的肌肉进行活检，其中2例患者进行皮肤活检，肌肉标本进行常规组织学和酶组织化学染色，皮肤和肌肉标本进行电镜检查。结果 6例患者均存在典型皮肌炎的肌肉病理改变特点，表现为以肌束衣为主的炎细胞浸润和束周分布的肌纤维空泡变性和再生现象。非特异性酯酶染色显示小血管和毛细血管内皮细胞深染。电镜检查发现皮肤毛细血管内皮细胞坏死消失后残留的基底膜结构和细胞降解产物，在部分成熟毛细血管内皮细胞的胞浆内可见管网包涵体，该包涵体不出现在小血管坏死和再生的内皮细胞以及平滑肌细胞内。相同改变规律的微血管病变也出现在骨骼肌内。结论 皮肤具有和骨骼肌相同的微血管病理改变规律。内皮细胞损伤是青少年型皮肌炎微血管病的主要病理改变。显然青少年型皮肌炎是血管内皮细胞病。束周肌纤维病变为继发于微血管内皮细胞病变的缺血性损伤。     

Juvenile dermatomyositis: clinical,laboratorial, histological,therapeutical and evolutive parameters of 35 patients

This study was based on a prospective and a retrospective analysis of 35 patients who met Bohan and Peter criteria for juvenile dermatomyositis diagnosis.The mean follow-up time was three years ten months. Calcinosis was present in five (14.28 %) patients, cutaneous ulcers in four (11.42%), and systemic involvement in nine (27.71%) patients. All patients presented alterations in the serum levels of muscle enzymes, and all of them were submitted to muscle biopsy as a diagnostic procedure. Nine (25.71%) patients received corticotherapy prior to and 26 (74.28%) after the muscle biopsy. Chloroquine, methotrexate, cyclosporine, cyclophosphamide and intravenous immunoglobulin were used in patients with poor response to corticotherapy. Continuation of cutaneous manifestations was observed in 4 (11.43%) patients, laboratorial activity in 1 (2.85%), cutaneous and laboratorial activities in 3 (8.57%). Ten (28.57%) patients were out of activity, and 17 (48.57%) in remission at study end-point, on March 2002. Two (5.71%) patients died.     

An unusual pathologic feature associated with dermatomyositis

We present a case of juvenile dermatomyositis with unusual histopathologic findings. The child presented with a course consistent with dermatomyositis, a diagnosis confirmed by finding reticulotubular aggregates in endothelial cells on electron microscopy. However, histopathology of his muscle biopsy revealed a striking pattern of glycogen accumulation, to an extent similar to that seen in glycogen storage diseases; this degree of accumulation could potentially confound histopathologic diagnosis.     

Dermatomyositis and Whipple's disease

A 14-year-old boy presented with a 3-year history of a skin rash typical of juvenile dermatomyositis, and a 2-month history of mild proximal weakness, myalgia, and weight loss. A quadriceps biopsy showed perifascicular fibre atrophy, focal necrosis and regeneration, immunohistochemical labelling for HLA-1 on the surface of the fibres, and focal C5-9 deposition in capillaries. Macrophages with diastase-resistant, PAS-positive cytoplasm were present. Ultrastructural studies showed electron dense and membranous debris. The patient's symptoms responded to intravenous immunoglobulin and oral prednisolone. Four months after discontinuing prednisolone, the patient developed cardiac failure, ventricular tachycardia, and a recurrence of his rash. The 16S ribosomal RNA specific for Tropheryma whippelii was identified by polymerase chain reaction (PCR) analysis in skeletal and cardiac muscle. The myalgia and skin rash responded to prednisolone and oral co-trimoxazole, and the tachycardia is controlled by oral verapamil. This patient appears to have a novel association of juvenile dermatomyositis and Whipple's disease.     

无皮炎的皮肌炎患者1例临床和病理分析

目的:探讨无皮炎表现的皮肌炎的临床病理和发生机制。方法:对一例无皮炎表现的肌炎患者进行肌肉组织病理和LCA免疫组化观察。结果:患者肌组织病理特点为肌纤维变性坏死,明显的束周萎缩和炎细胞浸润,浸润的细胞LCA表达阳性,诊断为皮肌炎。结论:皮肌炎患者可以无皮炎表现,可能为皮肌炎的另一亚型,需进一步随访研究。     

Magnetic resonance imaging of the muscles in patients with polymyositis and dermatomyositis

Magnetic resonance imaging (MRI) of the muscles was performed in patients with polymyositis and dermatomyositis. Lesions with high intensity on T2-weighted image, but normal intensity on T1-weighted image, were observed in 7 of 8 patients in the active stage of the disease. Following clinical improvement with corticosteroid therapy in 4 patients, the high intensity lesions reverted to normal. The high intensity lesions seen on T2-weighted image in the active stage may represent edema and inflammation of the muscle. MRI of the muscle may serve as a diagnostic tool and be useful for follow-up of the patients with polymyositis or dermatomyositis.     

Streptococcal myositis as a complication of juvenile dermatomyositis

The infection of muscle is an infrequent condition. We report on a patient with a juvenile form of dermatomyositis who developed infectious myositis caused by Streptococcus pyogenes. The inflammatory myopathy probably favoured the colonization of muscle during a bacteremia related to the skin lesions. The main forms of streptococcal myositis, which can currently be differentiated by means of imaging techniques, are discussed in addition to its treatment and prognosis.     

Clozapine-induced angioneurotic edema

Many prescribed drugs can cause cutaneous rashes and eruptions, which may present in various forms and severity. Most of these reactions are mild; however, the severe cases can lead to life-threatening complications. The most severe of these reactions may include angioedema, acute generalized exanthematous reactions, Stevens-Johnson syndrome and toxic epidermal necrolysis. We report two cases wherein the patients developed classical angioneurotic edema on clozapine therapy and improved rapidly when clozapine was stopped.     

Optic disc edema in neonatal onset multisystem inflammatory disease (NOMID).

PURPOSE: To inform ophthalmologists about neonatal onset multisystem inflammatory disease (NOMID), a rare condition with ophthalmologic manifestations. METHODS: We report a single case of NOMID with optic disc edema. RESULTS: A 28-month-old child with neonatal rash, arthropathy, central nervous system (CNS) involvement, and optic disc edema was diagnosed with NOMID. CONCLUSIONS: The finding of posterior uveitis or optic disc edema in a child with juvenile onset arthritis may allow the differentiation of NOMID from juvenile rheumatoid arthritis.     

Inflammatory myopathies: evaluation and management

The inflammatory myopathies, including dermatomyositis, inclusion body myositis, and polymyositis, are poorly understood autoimmune diseases affecting skeletal muscle. Dermatomyositis is a disease mainly of skin and muscle, but may affect lung and other tissues. Proximal or generalized weakness or skin rash are the typical presenting features. Inclusion body myositis has a specific clinical pattern of weakness that generally distinguishes it from other inflammatory myopathies, with prominent involvement of wrist and finger flexors, and quadriceps. Polymyositis generally presents with proximal or generalized weakness. Typical dermatomyositis muscle pathology is quite distinct, with perivascular inflammatory cells that include plasmacytoid dendritic cells, and abnormal capillaries and perimysial perifascicular myofibers. Both inclusion body myositis and polymyositis usually have infiltration into muscle of large numbers of inflammatory cells, typically surrounding and displacing, and sometimes invading, myofibers. Inclusion body myositis is refractory to corticosteroids and to several immunomodulating therapies that have been used. Dermatomyositis and polymyositis are treated with corticosteroids and a variety of agents. Osteoporosis and opportunistic infections pose a significant risk during treatment of patients. This review discusses the clinical manifestations, pathology, and treatment approaches for the inflammatory myopathies.     

Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series

The purpose of this study was to investigate the timing of generalized electroencephalographic abnormalities in patients with juvenile myoclonic epilepsy who were followed up long term before the onset of juvenile myoclonic epilepsy. We enrolled juvenile myoclonic epilepsy patients whose course of epilepsy had been observed for >5 years before the onset of juvenile myoclonic epilepsy, those who had undergone electroencephalogram recording more than twice before the onset of juvenile myoclonic epilepsy, and those who had terminated antiseizure medications for at least 2 years before the onset of juvenile myoclonic epilepsy. Patients who had transitioned from childhood absence epilepsy to juvenile myoclonic epilepsy were excluded. We retrospectively reviewed the medical records and neurophysiological data of the patients. Four patients met the inclusion criteria. One patient was diagnosed with febrile seizures during childhood, and the remaining three had transitioned to juvenile myoclonic epilepsy from other epileptic disorders, such as self-limited epilepsy with autonomic seizures, genetic epilepsy with febrile seizure plus, or nonspecific genetic generalized epilepsy. All patients exhibited generalized spike–wave discharges or photoparoxysmal responses for >2 years before the onset of juvenile myoclonic epilepsy. The four patients had transitioned to juvenile myoclonic epilepsy from other epileptological preconditions. Patients with juvenile myoclonic epilepsy may show generalized electroencephalographic abnormality many years prior to the onset of symptoms. Generalized spike–waves on the electroencephalogram during the course of any type of epilepsy or febrile seizure may be a risk factor for developing juvenile myoclonic epilepsy.     

Dermatomyositis

Dermatomyositis is a condition that combines an inflammatory myopathy with characteristic cutaneous disease. This disorder is closely related to polymyositis, which has all the muscular features of dermatomyositits without the presence of skin disease. Both dermatomyositits and polymyositis may occur in the presence of other collagen vascular diseases such as lupus erythematosus, scleroderma, Sj?gren's syndrome, rheumatoid arthritis, and various vasculitides. Dermatomyositis seems to be characterized by an increased frequency of internal malignancy and both dermatomyositis and polymyositis are associated with morbidity and mortality. Therefore, prompt and aggressive therapy is necessary.     

Dystrophin abnormalities in polymyositis and dermatomyositis

The expression of dystrophin in muscle biopsies from nine cases of polymyositis, ten cases of juvenile dermatomyositis and three adults with dermatomyositis was studied by Western blot analysis and immunocytochemistry. Five antibodies corresponding to different N- and C-terminal regions of the dystrophin gene were used. Sixteen of the 22 cases (73%) showed an abnormality in the expression of dystrophin on Western blot analysis, either with a reduced molecular weight protein or a reduced amount. Immunostaining was abnormal in 11 out of 19 cases (58%) and showed varying degrees of discontinuity or loss of sarcolemmal staining. Immunolabelling of these areas with antibodies to beta-spectrin was normal implying that the changes were not caused by a loss of the sarcolemma. These results show that secondary changes in the expression of dystrophin can occur in the absence of an abnormality in the corresponding gene and that dystrophin cannot be used in isolation as a diagnostic marker for muscular dystrophy.     

Occult infarct with acute hemorrhagic stroke in juvenile diabetic ketoacidosis

Diabetes ketoacidosis (DKA) is one of the common complications of type I insulin-dependent diabetes mellitus. Neurological deterioration during an episode of DKA is usually assumed to be caused by cerebral edema and cerebral vascular accidents. However, hemorrhagic stroke is a very rare complication of juvenile DKA. We describe a girl who had newly diagnosed insulin-dependent diabetes mellitus with juvenile DKA developed intracerebral hemorrhage.     

A patient who developed dermatomyositis during the 1st trimester of gestation and improved after abortion]

This patient was a 30-year-old woman who was in the 8th week of her first pregnancy with three embryos. She developed fever, myalgia and weakness of the proximal muscles, and erythema of the face, dorsal aspects of elbows, and knees. Routine blood examinations showed elevated serum CK. Immunologically, an anti-Jo-1 antibody was positive. Skin biopsy revealed mucinosis and edema in the superficial layer of the corium, and liquid alternation in the basal layer of the epidermis. From these findings, this patient was diagnosed as having dermatomyositis. She was placed on oral prednisolone (80 mg daily), but her clinical symptoms did not improve and all fetuses died by the 11th week of gestation. Then she underwent dilation and curettage and after this operation her disease rapidly subsided. It seemed that fetuses were causatively related to the development of dermatomyositis possibly by changing maternal immune condition. There were six reported cases with dermatomyositis/polymyositis who developed during the first trimester of gestation. Four of these 6 patients were treated with oral steroid; however, only one patient ended in normal delivery. More aggressive therapy, other than corticosteroid, may be required to improve fetal prognosis.     

Outcome of children with juvenile absence epilepsy

The incidence and natural history of childhood absence epilepsy are well documented, but those of juvenile absence epilepsy are poorly delineated. We conducted a retrospective chart study to evaluate the incidence and outcome of patients with juvenile absence epilepsy by retrieving the medical records of consecutive patients with juvenile absence epilepsy who were evaluated in three pediatric neurology outpatient clinics in Israel. Inclusion criteria included the onset of epilepsy after the age of 10 years and follow-up until at least 15 years of age. The patients with an electroencephalogram (EEG) suggestive of myoclonic epilepsy (polyspike and wave) were excluded from the study. Seventeen patients (10 female and 7 male) fulfilled the inclusion criteria for juvenile absence epilepsy. They presented with epilepsy at a mean age of 11.94 years (range 10-16.5 years). The mean duration of follow-up was 6.05 years (range 2-12 years). Five patients (29.4%) had a family history of epilepsy. All 17 patients had a normal neurodevelopmental status. Eight patients (47%) experienced generalized tonic-clonic seizures. At follow-up, eight patients (43.7%) were seizure free. Only three (37.5%) of the patients who experienced generalized tonic-clonic seizures were seizure free during follow-up compared with five (55.5%) patients without generalized tonic-clonic seizures. Our results indicate that the outcome of patients with juvenile absence epilepsy is less favorable than children with childhood absence epilepsy and that the presence of generalized tonic-clonic seizures is a predictor for poorer outcome.