Project description:Recently, concerns have been raised about an increased risk of cardiac sarcoidosis in patients with sarcoid uveitis. While cardiac sarcoidosis has a high mortality burden, there is still a lack of precise data on this association. The objective of this study is to describe the frequency and type of cardiac complications associated with sarcoidosis of a large cohort of patients with sarcoid uveitis. We analyzed the cardiac outcomes of a monocentric retrospective cohort of consecutive adults with a diagnosis of sarcoid uveitis between January 2004 and March 2020 in a tertiary French university hospital. A total of 294 patients with a final diagnosis of sarcoid uveitis were included. At final follow-up, seven (2.4%) patients of the cohort had cardiac sarcoidosis. Cardiac sarcoidosis was more frequent among patients with previously reported systemic sarcoidosis (p = 0.008). The prevalence of cardiac sarcoidosis among patients with sarcoid uveitis is low, but patients with previously diagnosed sarcoidosis or those who develop systemic sarcoidosis during follow-up appear to be at increased risk.
Project description:Neonatal lupus erythematosus (NLE) is a rare autoimmune disorder of newborns and infants, born to usually asymptomatic mothers with lupus erythematosus. Clinical manifestations include variable cutaneous findings, with possible cardiac or hepatic involvement. We present a case of a 3-month-old baby girl with NLE, born to an asymptomatic mother. Her atypical clinical presentation included hypopigmented atrophic scars on the temples. She improved with topical pimecrolimus cream, with almost complete resolution of the facial lesions and improvement in atrophy noted at the 4-month follow-up visit. Cutaneous findings of hypopigmentation and atrophic scarring are less commonly reported. To our knowledge, no similar cases have been published in the Middle East. We aim to share this interesting case, highlight the different clinical presentations of NLE and raise awareness among physicians about this variable phenotype of NLE for timely diagnosis of this uncommon entity.
Project description:Anti-glomerular basement membrane disease (anti-GBM) is a well-documented, small vessel vasculitis that is classically associated with glomerulonephritis and alveolitis [1]. However, regardless of clinical process, not every patient will present with a constellation of classically associated symptoms. Literature review demonstrates that early anti-GBM disease can present as glomerulonephritis without alveolitis [2,3]. In this case report, we describe the unique clinical course of a 26-year-old male who originally presented with hemoptysis and his subsequent clinical workup revealing anti-glomerular basement membrane disease without renal involvement.
Project description:BackgroundEven though tuberculosis is a common disease among children in developing countries, tuberculous dactylitis is an uncommon form of Skeletal tuberculosis specially with involvement of both the hands and feet.Case presentationA one-and-a-half-year-old previously healthy female Ethiopian toddler presented to our pediatric outpatient clinic with a history of two-month duration of painful multiple swellings over both her hands and feet. The swelling involved the proximal phalanx of the left index finger, dorsum of the right hand, and dorsum of both feet over the first metatarsal bone. Physical examination, radiologic findings, and histopathology suggested tuberculous dactylitis. The patient was treated with anti-tuberculosis drugs for one year and she showed clinical and radiologic improvement and recovery.ConclusionTubercular dactylitis should be considered in the differential diagnosis of children from endemic areas presenting with bone and joint pain or swelling. Our experience of a twelve-month course of antitubercular treatment, which is in line with WHO recommendations, for skeletal tuberculosis, showed excellent outcomes.
Project description:Solitary plasmacytoma (SP) is an early-stage plasma cell malignancy that is in between monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM) along the spectrum of plasma cell disorders. SPs can be divided into 2 groups according to location: solitary bone plasmacytoma (SBP) - these occur most commonly in the vertebrae and secondarily in long bones, and extramedullary plasmacytoma (EMP) - these encompass all nonosseus SPs. The etiology is still unknown, and they generally display a destructive course with preponderance of males. Both lesions present a risk of progression to multiple myelom. Its presence in jaws is extremely rare and when it is seen, angulus and ramus mandible are most common sites of occurrence. Histopathological examination and systemic investigation are mandatory for confirmation but support of immunohistochemistry positivity for CD138 was also done for establishing the final diagnosis.
Project description:Renal leiomyosarcomas (LMS) are extremely rare neoplasms with aggressive behaviour and poor survival prognosis. The most frequent somatic events in leiomyosarcomas are mutations in TP53, RB1, ATRX and PTEN genes, chromosomal instability and chromoanagenesis. By using chromosomal microarray analysis we identified monosomy of chromosomes 3 and 11, gain of Xp (ATRX) arm and three chromoanasynthesis regions (6q21-q27, 7p22.3-p12.1 and 12q13.11-q21.2), with MDM2 and CDK4 oncogenes copy number gains, whereas no CNVs or tumor specific SNVs in TP53, RB1 and PTEN genes were observed.
Project description:Key clinical messageAlthough intravascular lymphoma rarely presents with peripheral neuropathy, learning about this presentation can lead to timely diagnosis and improved prognosis in patients with intravascular lymphoma.AbstractA 64-year-old man presented with asymmetric paresthesia and subsequent weakness of his feet and a 10 kg weight loss over 40 days. Electrodiagnostic studies revealed distal axonal sensory-motor polyneuropathy with ongoing axonal loss. A peroneal nerve biopsy showed intravascular proliferation of CD-20 positive lymphocytes, which suggested intravascular large B-cell lymphoma.
Project description:Subcutaneous sarcoidosis is a very rare manifestation of sarcoidosis and its association with parenchymal lung involvement is rarer. We report the twentieth case in the literature published on PubMed. It is the case of a 61-year-old caucasian, non-smoker lady, who presented to a dermatology department with a 7-month history of asthenia, anorexia, weight loss, fever, exertion dyspnea, dry cough, arthralgia of the large joints and non-tender multiple subcutaneous tumefactions. Biopsy of the nodules established the diagnosis of subcutaneous sarcoidosis. Bronchioloalveolar lavage revealed alveolitis with lymphocyte predominance and the CD4/CD8 ratio was 8.5. Chest computed tomography scan revealed peribronchovascular thickening, micronodules of lymphatic distribution and mediastinal lymphadenopathies which were bilateral, asymmetric, and non-compressive. We therefore concluded the involvement of the lung and the mediastinal lymph nodes. The angiotensin-converting enzyme level was high. The patient was successfully treated with prednisone at the dose of 1mg/kg/day.
Project description:BackgroundSevere hypertension in young patients presents a significant diagnostic dilemma, and treatment can often be codified. Therefore, it is crucial to diagnose these cases for probable secondary hypertension. Common causes of secondary hypertension include large vessel vasculitis, renal artery stenosis, coarctation of the aorta, and endocrine disorders.Case summaryA 23-year-old Asian male, who was previously in good health, presented with symptoms of chest pain, shortness of breath on exertion grade II, and generalized weakness. On examination, his blood pressure was markedly elevated at 200/110 mmHg. Diagnostic investigations revealed significant vascular involvement, including bilateral renal artery stenosis accompanied by aneurysm formation, celiac trunk disease, and osteal stenosis of the superior mesenteric artery. The patient underwent successful interventional procedure, including renal angioplasty, stenting, and aneurysm coiling. This was followed by tailoring of medical management along with anti-inflammatory and disease-modifying drugs.DiscussionThe diagnosis of Takayasu arteritis (TAK) in this case is supported by the patients' age, presentation, and imaging according to the new TAK classification criteria by the American College of Rheumatology/European League Against Rheumatism (EULAR) and emphasizes the potential benefits of a pharmaco-invasive approach for optimal outcomes.
Project description:Sarcoidosis is an idiopathic, noncaseating granulomatous disorder with wide systemic involvement. It is encountered widely around the world and it affects both sexes, all the races in all age groups. Lungs, eyes, and skin are the organs most commonly affected. Constitutional features such as weight loss, fatigue, and myalgia are the most common symptoms. Bone involvement, which is very rare, was reported as present in 3 to 13% of effected cases, and it is most commonly seen in hands and feet, compared with long bone involvement, which is extremely rare. We hereby present a case with a diagnosis of sarcoidosis and multiple bone involvement emphasizing the importance of differential diagnosis.