Connective Tissue Disease Presenting Research Articles

Abstract Number ‐ 85: Distal Anterior Choroidal Artery Fusiform Aneurysm Successfully Treated with Flow Diversion

Introduction Anterior choroidal artery (AChA) aneurysms account for 3–5% of intracranial aneurysms, and are often saccular, arising at or near the origin of the AChA, with distal lesions being exceedingly rare. Contrary to saccular aneurysms, fusiform aneurysms are associated with a higher risk of rebleeding and mortality due to their formidable anatomy requiring advanced techniques including bypass, stent‐assisted coiling, and, more recently, flow diversion. While flow diverters are becoming more popular, they are currently only approved forinternal carotid artery segment aneurysms. However, many institutions areexpanding their use to more distal and smaller caliber vessels. Herein we present a novel pathology of a dissecting distal AChA fusiform pseudoaneurysm with a small vessel caliber treated successfully with flow diversion. Methods Case presentation and surgical technique. Results We describe a 40‐year‐old woman with monoclonal gammopathy of unknown significance (MGUS), lichen sclerosis, and an unspecified connective tissue disease presenting with diffuse subarachnoid hemorrhage (SAH) (World Federation of Neurosurgical Societies 1; Hunt & Hess scale 2; Modified Fisher Scale 3). A digital subtraction cerebral angiogram revealed a dissecting (5×3 mm) left AChA pseudoaneurysm, 4mm distal to the origin (Figure 1). Flow Redirection Endoluminal Device (FRED Jr, Microvention, CA) (2.5mm 8/13 working/total length) was deployed within the vessel proximal to the aneurysm, preceded by an infusion of 5mg of verapamil to facilitate stent placement (Figure 2). Post procedure, she remained neurologically intact and was discharged on dual antiplatelet therapy (aspirin/ticagrelor). Repeat cerebral angiogram at six months showed patent flow diversion device and no pseudoaneurysm remnant (Figure 3) with a nonfocal physical examination. Conclusions Flow diversion may be a successful, and safe, therapeutic intervention for challenging distal intracranial aneurysms with smaller caliber vessels.

P239 Are patients with acute pericardial syndromes adequately screened for connective tissue diseases? Results from a single-centre study and comparison to European Society of Cardiology Guidelines

Abstract Background/Aims Pericardial syndromes (PS) comprising pericarditis, pericardial effusions, cardiac tamponade, and constrictive pericarditis, can be presenting features of connective tissue disease (CTD) including lupus (SLE) and rheumatoid arthritis (RA). PS comprise 0.1% of all hospital admissions and 5% of acute non-cardiac chest pain. PS occur as single episodes but recur in 30% of patients within 18 months after the first episode. The 2015 European Society of Cardiology (ESC) pericardial disease guidelines recommend assessment of NSAID response with follow-up and tests in those who are NSAID non-responders or who have recurrent PS. We audited the management of patients presenting with PS in a tertiary referral centre, using the 2015 ESC guideline standards to determine if investigations to uncover autoimmune diseases as a cause of PS were performed. Methods We obtained data on all patients coded with PS presenting to St George’s Hospital Emergency Department between Jan 1st, 2019, and October 31st, 2020. We also searched data including patients’ length of stay, test results including blood tests, imaging (X-ray, ultrasound, CT and MRI), initial management, outpatient follow-up, recurrence numbers and identifiable cause. Data were compared to the 2015 ESC guidelines. Results We identified 132 PS cases, of which 37 (28%) had recurrent pericardial disease. Of these, 15 (41%) were screened for connective tissue disease with antinuclear antibody (ANA) testing. Of those tested, nine (60%) had a positive ANA (titre 1/80 or greater), with three (33%) positive for extractable nuclear antigens (anti-Ro, anti-Sm and anti-RNP). Only 14 patients (38%) with recurrent disease had rheumatoid factor (RhF) tested, with four of these (29%) positive, while one of eight (12.5%) patients tested was anti-CCP antibody positive. Only 13 of 37 recurrent cases (35%) had both ANA and RhF tested. Furthermore, 37 of all PS cases (28%) were not followed up after initial presentation, while only five (14%) of recurrent cases received any follow up. By contrast, presumed infection tested serologically was found in only 7.8% of all cases tested, most commonly Mycoplasma or raised ASOT. Conclusion A high proportion of recurrent PS patients screened in our study had a positive ANA, ENA or RhF suggesting screening can identify new potential CTD, including SLE or RA. These patients require different treatment strategies to infectious PS. We demonstrated screening was inconsistent despite the absence of obvious infective causes in most cases and limited to 41% of patients with recurrent disease, which present the highest risk of association with CTD. ESC guidelines recommend all patients be followed up after 1 week, yet few high-risk patients received any outpatient review, from any speciality. There is a pressing need to ensure potential cases of CTD presenting as PS are not missed as doing so may prolong symptoms and worsen outcome. Disclosure D. Srikantharajah: None. V. Joseph: None. A. Kaul: None.

Mixed Connective Tissue Disease Presenting as Longitudinal Extensive Transverse Myelitis and Vasculitic Neuropathy

Mixed connective tissue disease (MCTD) is described as an entity with mixed features of systemic lupus erythematosus, systemic sclerosis, polymyositis/ dermatomyositis, and rheumatoid arthritis together with the presence of high-titre anti-U1 small nuclear and anti-ribonucleoprotein (anti-RNP) antibodies. Here, we present a case of an 18-year-old female patient who presented with quadriparesis, sensory loss in all four limbs, and trophic ulcers. Laboratory investigations were strongly positive for ANA, KU, SM/RNP, SM, SSA, and RIBOSOME P protein. MRI brain showed diffuse T2 hyperintensity in the spinal cord extending from cervicomedullary junction to conus with a subtle expansion of cord. A diagnosis of longitudinal extensive transverse myelitis and vasculitic neuropathy in the case of MCTD was made.

3241 An Unusual Case of Mixed Connective Tissue Disease Presenting as Abdominal Pain

INTRODUCTION: Mixed Connective Tissue Disease (MCTD) is a rare systemic autoimmune condition with clinical features similar to systemic lupus erythematous, dermatomyositis, sarcoidosis and rheumatoid arthritis. The diagnosis of MCTD consists of high antibody titers to U1 small nuclear ribonucleoprotein (RNP) in peripheral blood and the presence of clinical manifestations. The most common manifestations are Raynaud phenomenon, joint and muscle pain. Gastrointestinal manifestations of MCTD are less common and are usually gastroesophageal reflux disease or dysphagia. This case describes MCTD presenting as epigastric abdominal pain in a healthy woman. CASE DESCRIPTION/METHODS: The patient is a 50-year-old female with no past medical history who was referred to gastroenterology for evaluation of two months of epigastric pain that failed to improve after a thirty-day course of esomeprazole. The pain was described as “squeezing and strangling” in character. A subsequent EGD was unremarkable. The patient was noted to have a mild elevation in her ALT (38) and underwent an ultrasound that demonstrated hepatomegaly and hepatic steatosis. A serological chronic liver disease work-up was negative with the exception of ANA, which was 1:80 in a homogenous pattern. The rest of the patient's laboratory work-up was unremarkable. ANA nine months later was again positive. Anti-RNP antibody was also positive. In the setting of persistent unexplained pain, a repeat ultrasound was performed and was normal. A HIDA scan was done, which demonstrated a borderline ejection fraction of 27%. Biliary dyskinesia was not felt to be cause of the patient's pain given its character and timing. The patient was advised to see a rheumatologist regarding her positive anti-RNP antibody but failed to do so. She presented to a new PCP with continued epigastric pain and new onset arthralgia and edema. The patient was started on methylprednisolone rapid taper which resolved all of the patient's symptoms. The patient was advised to start hydroxychloroquine but she declined due to resolution of her symptoms. DISCUSSION: MCTD is a rare systemic autoimmune condition with clinical manifestations affecting multiple organ systems. Gastrointestinal involvement of MCTD is less common. In this case a previously healthy woman presented with epigastric pain and was found to have MCTD as a cause of her symptoms. This case is an unusual presentation of MCTD and is clinically important as early treatment of MCTD decreases the risk of progression to other organ systems.

Distal Renal Tubular Acidosis Associated with Mixed Connective Tissue Disease and Hypothyroidism

Renal tubular acidosis (RTA) is caused by defect in renal tubular acid transport. Sjogren’s syndrome, rheumatoid arthritis, systemic lupus erythematosus and autoimmune hepatitis are the most common autoimmune causes of distal RTA. We are reporting a case of distal renal tubular acidosis associated with mixed connective tissue disease and hypothyroidism presenting as recurrent hypokalemic paralysis.TAJ 2017; 30(2): 76-78

AMBIGUOUS PRESENTATION OF A COMMON DISEASE ASSOCIATED WITH INTERSTITIAL LUNG DISEASE

SESSION TITLE: Pulmonary Manifestations of Systemic Diesase SESSION TYPE: Fellow Case Report Posters PRESENTED ON: 10/09/2018 01:15 PM - 02:15 PM INTRODUCTION: Ambiguous presentation of connective tissue disease may delay decision making in diagnosis and treatment of interstitial lung disease. CASE PRESENTATION: 60-year-old African-American woman presents with dry non-resolving cough following upper respiratory tract infection. She has no environment exposure and 15 pack-year smoking. Medical history is remarkable for hypertension, knee and shoulder osteoarthritis. She had tightening of skin around mouth, Raynaud’s phenomenon, diffuse non-specific large and small joint occasional polyarthralgias and stiffness, but no swelling or deformities (other than osteoarthritic changes). Key negative points of history include absence of fever, night sweats, orthopnea and PND. Vital signs are normal, SpO2 93%, RR 20 and BMI 39. She is alert, oriented, clubbing of digits noted and “Velcro” crackles auscultated at lung bases, normal heart sounds heard and no pedal edema noted. Chest X-ray shows interstitial thickening and atelectasis; HRCT reveals “possible UIP” pattern (no honey combing). Lung function tests showed normal ratio with FVC 47% TLC60% DLCO 50%, air trapping. Dyspnea precluded a 6’ walk study. Laboratory studies: Anti-RNP and speckled ANA were positive; ANCA negative; RF and CCP negative. Hand X-rays were non-diagnostic for rheumatoid arthritis. Four months later, lung biopsy reveals areas of fibrosing NSIP, UIP, pleural inflammation and extensive onion skin proliferation within medium size pulmonary vasculature. DISCUSSION: Following the biopsy, she required 2 liters to maintain 91% saturation. An echocardiogram showed pulmonary hypertension PASP 90 mm Hg and increased LVEDP with diastolic dysfunction. Right heart catheterization showed mean PAP 50 mmHg with high PVR 800 dynes-sec/cm5 and wedge, 14 mmHg. Over 4 months, treatment with ambrisentan, tadalafil, and diuresis failed to improve PA pressures and she was hospitalized with cor pulmonale. At this point, 14 months from the initial evaluation, mycophenolate and steroids are given based on a diagnosis of mixed connective tissue disease (ILD). Milrinone is added to her inpatient regimen and her 6’ walk improves to 0 to 140 ft. 20 months from the initial evaluation, hand X-rays reveal classical changes of rheumatoid arthritis and rituximab infusion given and mycophenolate continues. Echocardiographic PA pressures improve significantly. Improvements in pulmonary function testing and 6’ walk are shown (Graph). CONCLUSIONS: Non-specific systemic symptoms with “possible” UIP on HRCT, may incline physicians to obtain lung biopsy, however a lack of clinical factors may lead to misinterpretation of the findings. In the biopsy, pleural inflammation was a significant factor suggesting the presence of a systemic inflammatory connective tissue disease. This case demonstrates nonspecific disease presentation which was definable by tissue biopsy which dictated earlier therapeutic intervention. Reference #1: Kim EJ, Collard HR, King TE. Rheumatoid Arthritis-Associated Interstitial Lung Disease: The Relevance of Histopathologic and Radiographic Pattern. Chest. 2009;136(5):1397-1405. Reference #2: Egerer K, Feist E, Burmester G-R. The Serological Diagnosis of Rheumatoid Arthritis: Antibodies to Citrullinated Antigens. Deutsches Ärzteblatt International. 2009;106(10):159-163. Reference #3: Jee AS, Adelstein S, Bleasel J, et al. Role of Autoantibodies in the Diagnosis of Connective-Tissue Disease ILD (CTD-ILD) and Interstitial Pneumonia with Autoimmune Features (IPAF). Huang P, ed. Journal of Clinical Medicine. 2017;6(5):51. DISCLOSURES: No relevant relationships by Kunal Patel, source=Web Response No relevant relationships by Edward Sivak, source=Web Response No relevant relationships by Prashanth Thalanayar Muthukrishnan, source=Web Response no disclosure on file for Joseph Tomashefski

A Case of Mixed Connective Tissue Disease Presenting with Recurrent Infections

A Case of Mixed Connective Tissue Disease Presenting with Recurrent Infections

Myocardial fibrosis detected by magnetic resonance in systemic sclerosis patients – Relationship with biochemical and echocardiography parameters

ObjectivesSystemic scleroderma (SSc) is a rare connective tissue disease presenting with fibrosis affecting skin and internal organs. Cardiovascular magnetic resonance (CMR) with quantification of extracellular volume (ECV) and T1 mapping might help to detect heart involvement. We aimed to evaluate whether myocardial involvement correlates with functional and laboratory parameters. MethodsThirty-three asymptomatic SSc patients (29 women, aged 56.6±12.2years) and 20 controls (10 women, 53.7±13.1years) were examined using CMR, echocardiography, functional pulmonary test and laboratory assessment. ResultsSSc patients had higher ECV (27.5±2.8 vs. 22.8±1.9%, P<0.0001) and native T1 values (1258.9±51.2 vs. 1192.2±32.6, P<0.0001) compared to controls. Plasma level of growth differentiation factor 15 (GDF-15) and galectin-3 correlated with ECV (r=0.35; P=0.0076 and r=0.38; P=0.0081) and native T1 (r=0.31; P=0.023 and r=0.35; P=0.012). GDF-15 was also negatively correlated with diffusing capacity of the lung for carbon monoxide (r=−0.58; P=0.0004) and positively correlated with modified Rodnan skin score (r=0.59; P=0.0003). Conventional echocardiography parameters were similar in SSc patients and controls. However, the global longitudinal peak systolic strain (GLPS) was lower in SSc patients compared to controls (18.6±1.6 vs. 21.1±1.2%; P<0.0001). GLPS also negatively correlated with native T1 (r=−0.35; P=0.0097), ECV (r=−0.33; P=0.014), GDF 15 (r=−0.31; P=0.022), and galectin-3 (r=−0.37; P=0.0076). ConclusionsAsymptomatic heart involvement is common in SSc patients and includes focal and diffuse myocardial fibrosis. GDF-15 and galectin-3 were positively correlated with myocardial fibrosis parameters. Future outcome studies must show whether measurement of GDF-15 and galectin-3 in SSC patients might be may be useful in clinical practice.

Case of Mixed Connective Tissue Disease Presenting with Scleroderma Renal Crisis

Case of Mixed Connective Tissue Disease Presenting with Scleroderma Renal Crisis

Mixed connective tissue disease presenting as atrial fibrillation, fever, lymphadenopathy, and pericardial effusion

Introduction: Mixed connective tissue disease (MctD) is a poorly understood rheumatologic condition that presents with clinical symptoms related to the underlying presence of distinct overlapping autoimmune conditions. Patients can be identified by the presence of a shared antibody to the U1 small nuclear ribonucleoprotein autoantigen. While the condition is considered incurable, prognosis is relatively good with most patients responding well to glucocorticoids. We report a case in which a patient presented with multiple nonspecific symptoms but was found to have multiple organ involvement that ultimately was tied to MctD. case report: We report a 48-year-old male admitted with multiple nonspecific symptoms who was found to have atrial fibrillation, pericardial effusion, pleural effusions, diffuse lymphadenopathy and among other lab abnormalities, pancytopenia and various positive rheumatologic seromarkers. Extensive diagnostic workup led to a diagnosis of mixed connective tissue disease. treatment with weight-based steroids led to a significant improvement of his symptoms. conclusion: Mixed connective tissue disease (MctD) is an

A Case Report of Mixed Connective Tissue Disease Presenting With Fever and Pruritus

A Case Report of Mixed Connective Tissue Disease Presenting With Fever and Pruritus

Eosinophilic gastrointestinal disorders associated with autoimmune connective tissue disease

ObjectivesTo determine the clinical and pathological characteristics of eosinophilic gastrointestinal disease (EGID) associated with autoimmune connective tissue disease (CTD). MethodsSystematic literature review. ResultsTwenty cases of CTD associated with EGID were identified. Systemic lupus erythematosus was the main EGID-associated CTD (35%), followed by rheumatoid arthritis (20%), systemic sclerosis or inflammatory myopathies (15%, each), and Sjögren's syndrome, scleromyositis or other overlapping connective tissue disease (5%, each). No patient had a history of atopy. In contrast with classical EGID among which eosinophilic esophagitis is the most frequent type, eosinophilic gastritis and/or enteritis represented 95% of cases. Gastrointestinal symptoms were often unspecific. Peripheral eosinophilia was found in 67% of cases. Upper and lower gastrointestinal endoscopy showed abnormal findings in only 40% and 30% of cases, respectively. EGID was confirmed by evidence of digestive eosinophilic infiltration, mainly in mucosal or submucosal layer. In all but one patient, the CTD was diagnosed prior to the occurrence of the EGID. In total, 95% of EGID had a favorable outcome, with corticosteroids being used in almost all cases. ConclusionClinicians should consider EGID as a possible diagnosis and perform gastrointestinal tract biopsies in patients with CTD presenting with gastrointestinal symptoms and unexplained eosinophilia. Conversely, more rarely extra-digestive features during follow-up in patients with EGID may lead to a diagnosis of an associated CTD. More research is needed to better understand the underlying pathophysiological processes leading to eosinophilic gastrointestinal infiltration in patients with CTD.

Brachial Neuritis With Phrenic Nerve Involvement in a Patient With a Possible Connective Tissue Disease.

Background. Brachial neuritis (BN) is a rare inflammatory condition of peripheral nerves, usually involving the cervicobrachial plexus. These patients present with sudden onset of shoulder and arm pain that evolves into muscle weakness and atrophy.. Case Report. A 33-year-old woman presented with a 1-month history of diffuse pain in her thorax. She had no trauma or inciting incident prior to the onset of this pain and was initially treated for muscle spasms. The patient was seen in the emergency room multiple times and was treated with several courses of antibiotics for pneumonia on the basis of clinical symptoms and abnormal x-rays. The pleuritic chest pain persisted for at least 4 months, and the patient was eventually admitted for worsening pain and dyspnea. On physical examination, crackles were heard at both lung bases, and chest inspection revealed increased expansion in the upper thorax but poor expansion of the lower thorax and mild paradoxical respiration. “Sniff” test revealed no motion of the left hemidiaphragm and reduced motion on the right hemidiaphragm. Her computed tomography scan revealed bilateral atelectasis, more severe at the left base. She reported no symptoms involving her joints or skin or abdomen. Her presentation and clinical course are best explained by BN with a bilateral diaphragmatic weakness. However, she had a positive ANA, RF, anti-RNP antibody, and anti SS-A. Conclusion. Patients with BN can present with diffuse thoracic pain, pleuritic chest pain, and diaphragmatic weakness. Our patient may represent a case of connective tissue disease presenting with brachial plexus neuritis.

Undifferentiated connective tissue disease presenting with vascular pattern of renal amyloidosis with carpel tunnel syndrome: A case report

The undifferentiated connective tissue disease (UCTD) is the clinical entity where the patients share the clinical symptoms of different connective tissue diseases but do not satisfy the classification criteria of the American College of Rheumatology for a particular connective tissue disease. A 62-year-old female was presented with multiple joint pain, Raynauds phenomenon, alopecia, swelling of legs, hardening of skin of the fingers of hands, and carpel tunnel syndrome. Antinuclear antibody test was moderately positive. Antibodies to double-stranded DNA and for antiphospholipid (lupus anticoagulant and anticardiolipin), anticentromere, anti-Scl-70, Anti-Jo1, U1-RNP Anti-Ro/SSA, Anti-La/SSB, were negative. RA factor was also negative. Twenty-four hour urine showed nephrotic range proteinuria and renal biopsy showed vascular pattern of renal amyloidosis with changes of interstitial fibrosis. The patient was diagnosed as having UCTD with vascular pattern of renal amyloidosis with carpel tunnel syndrome with nephrotic syndrome (NSAIDS induced minimal change nephropathy) with chronic kidney disease stage 3. Undifferentiated connective tissue disease may lead to renal involvement in the form of vascular pattern of renal amyloidosis. Raynauds phenomenon and carpel tunnel syndrome both can, coexist and may herald inflammatory arthritis or an UCTD., international journal of case reports and images, IJCRI, journal, electronic journal, e-journal, online, free full-text, free access, open access, online submission, ijcasereportsandimages, review articles, case series, case reports, case in images, clinical images, letter to editors

Mixed connective tissue disease presenting as trigeminal neuropathy

Mixed connective tissue disease presenting as trigeminal neuropathy

Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl

Mixed connective tissue disease (MCTD) is a systemic inflammatory disease affecting connective tissue with the underlying autoimmunological mechanism. The core of MCTD is an appearance of symptoms of several other inflammatory diseases of connective tissue – systemic lupus erythematosus, systemic scleroderma, poly- or dermatomyositis, rheumatoid arthritis at the same time, accompanied by a high level of anti-ribonucleoprotein antibodies (anti-U1RNP). The disease was described more than 40 years ago by Sharp et al. During recent years, many efforts to better understand clinical and serological features of MCTD have been made. Diagnosis of MCTD can be difficult. Obligatory international diagnostic criteria are required to be fulfilled. Several versions of such criteria have been proposed, but the most widely used one was described by Kasukawa. There is no consensus about treatment – a choice of drugs depends on symptoms. We present a case of a 10-year-old girl with sclerodactyly and trophic damages of fingers accompanied by symptoms of Raynaud's phenomenon. After an almost 2-year course of the disease, a diagnosis of MCTD has been established.

A Case of Pediatric-onset Mixed Connective Tissue Disease Presenting Raynaud's Phenomenon Affecting Tongue, Hands, and Feet

Soon Myung Jung 1 , Jin Taek Yoo 1 , Young Hwan Kim 1 , Yu Na Seo 2 , Na Young Lee 3 , Seong Geun Lee 4 , Seong Hu Park, Young Eun Park, Seung Hoon Baek, Geun Tae Kim, Sung-Il Kim, Joung Wook Lee Departments of Internal Medicine, Radiology and Pediatrics, Busan St. Mary’s Medical Center, Department of Internal Medicine, Pusan National University School of Medicine, Kosin University College of Medicine, Busan, Korea

Undifferentiated connective tissue disease presenting with prevalent interstitial lung disease: Case report and review of literature

Undifferentiated connective tissue diseases (UCTDs) are clinical entities characterised by signs and symptoms suggestive of a systemic autoimmune disease, which do not fulfil the diagnostic criteria for a defined connective tissue disease. Lung involvement can complicate the course and management of the disease, often determining a worse outcome. Respiratory dysfunction as the first clinical manifestation has seldom been reported.We describe a case of a female patient who developed significant respiratory dysfunction as the principal clinical sign. Video-assisted thoracoscopy was performed and a histological pattern of nonspecific interstitial pneumonia (NSIP) was found. A pathological diagnosis suggested careful follow-up with extensive immunological screening which then detected Raynaud's phenomenon and positivity of antinuclear antibodies. After a multidisciplinary discussion (pneumologist, radiologist, pathologist and rheumatologist) a final diagnosis of NSIP associated with UCTD was made. The diagnosis of UCTD should be considered when NSIP is diagnosed even in cases with evident first clinical manifestations of severe respiratory dysfunction. A multidisciplinary approach in the field of interstitial lung disease with NSIP, also including rheumatologic expertise, is fundamental to achieve a prompt and correct diagnosis.

Connective Tissue Disease Presenting With Signs and Symptoms of Pulmonary Hypertension in Children

Our case series describes three children who were initially diagnosed as having severe pulmonary arterial hypertension (PAH) and subsequently found to be positive for specific autoantibodies suggestive of an underlying autoimmune process. The signs and symptoms of PAH are subtle and may be part of the initial presentation of childhood connective tissue disease (CTD). Evaluation for connective tissue disease in the newly diagnosed pulmonary hypertension (PH) patient is important because early diagnosis of PH as well as CTD is crucial in the successful management of these complex patients. Ongoing monitoring for CTD in patients with severe PAH is warranted.

Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration

Mixed connective tissue disease (MCTD) is a rheumatological disease which has to be distinguished from other entities causing inflammatory myopathy. The usual clinical presentation of inflammatory myopathy associated with connective tissue disease is not different from isolated polymyositis or dermatomyositis, i.e., subacute onset of proximal weakness affecting both upper and lower girdle with high serum CK level. Here we report a patient with MCTD/myositis overlap syndrome displaying an uncommon clinical presentation and a distribution of muscle weakness involving facial, neck and arm muscles with sparing of lower limbs. We also describe the scarcity of muscle regeneration signs on the muscle biopsy with complete absence of alkaline phosphatase positivity in the endomysial and permysial connective tissue as a novel finding of this condition.