Kimura’s disease (KD) is a rare condition, with only a few cases reported to date, mainly in Asian patients. We herein present the case of a 48-year-old man with KD who presented with recurrent masses in the right parotid gland and neck region over a 15-year period. The masses were not accompanied by pain, or significant functional or neurosensory dysfunction. The results of the laboratory tests revealed an increased eosinophil count and markedly elevated serum IgE levels. On magnetic resonance imaging examination, a widespread abnormal signal was detected in the area of the lesions; the contrast-enhanced scan revealed inhomogeneous enhancement, with partial involvement of the sternocleidomastoid muscle and the parotid gland. The patient underwent surgical resection of the right parotid and neck masses, and the postoperative pathological examination revealed eosinophilic hyperplastic lymphogranuloma, also referred to as KD. This presented case and review of the relevant literature aim to improve our understanding of KD in order to increase the accuracy of diagnosis, reduce the misdiagnosis rate and ensure proper treatment of this rare disease. The full article you can find here.
Haddad syndrome (HS) is a very rare disease considered a form of neurocristopathy. It is characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung’s disease (HD). We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment. Medical records of patients diagnosed with HS from 2005 to 2016 were retrospectively reviewed. Demographic data including gestational age, birth weight and height, and paired-like homeobox 2b (PHOX2B) gene mutation were collected.
HS may require lifelong medical care. This study could be helpful to understand the clinical features of HS including associated abnormalities and disease progression. By assisting to understand the clinical features, we could provide better care for HS patients by achieving an earlier diagnosis and appropriate treatment. To read the full report check here.
In the last decades both diabetes mellitus and Alzheimer’s disease are constantly increasing. Affected individuals, therefore, represent an enormous problem for society, governments and global organizations. These diseases are usually considered as independent conditions, but increasing evidence shows that there are links between these two disorders. Some pathogenetic factors are shared by Type 2 Diabetes and Alzheimer’s Disease: chronic inflammation, oxidative stress, mitochondrial dysfunction, adiponectin deficiency, different expression of plasma cholinesterase activity and vascular damage could represent a possible explanation for the coexistence of these two conditions in many patients. A better understand of this issue and an appropriate management of diabetes by means of physical activity, low fat diet, and drugs to achieve a good glycemic control, avoiding both hyperglycemia and hypoglycemia, can represent a way to prevent cognitive decline and Alzheimer’s disease. The full article you can find here.
Paget-Schroetter Syndrome (PSS) or effort thrombosis of the axillary-subclavian venous axis is a rare disease affecting healthy young adults which requires a high index of suspicion to diagnose. Management often requires not only anticoagulation but also thrombolysis with first rib resection to prevent recurrence and complications. We present a case of a 31-year-old male who presented to our emergency department with pain and swelling of his left upper limb. He was diagnosed with PSS and underwent; anticoagulation, catheter directed thrombolysis and planned for first rib resection. To read more about this case check here.
Despite extensive research regarding the etiology of Huntington’s disease, relatively little is known about the epidemiology of this rare disorder, particularly in the United States where there are no national-scale estimates of the disease. The objectives of the research are to provide national-scale estimates of Huntington’s disease in a U.S. population and to test whether disease rates are increasing, and whether frequency varies by race, ethnicity, or other factors.Using an insurance database of over 67 million enrollees, we retrospectively identified a cohort of 3,707 individuals diagnosed with Huntington’s disease between 2003 and 2016. We estimated annual incidence, annual diagnostic frequency, and tested for trends over time and differences in diagnostic frequency by sociodemographic characteristics.
Тhe research findings suggest that disease patterns may be more driven by social or environmental factors. To find out more about the research and its outcomes, read the full article here.
There are unexpectedly few studies of either on the oral manifestations of pemphigus or their long-term management, and diagnostic delay in Dentistry is frequent.
We have examined outcome of patients presenting with predominantly oral pemphigus vulgaris (PV). Ninety-eight subjects were followed-up for 85.12 months and treated with systemic steroids; 48 of them received adjunctive therapy with azathioprine, 16 with rituximab, 13 with mycophenolate mofetil, 3 with immunoglobulin, 1 with dapsone. Clinical remission was achieved in 80 patients (84.21%); 39 of them were off therapy and 41 on therapy. Fifteen patients were not in remission, having been under systemic therapy for 72.16 months. Sixty-nine patients developed detectable adverse effects. Two fatal outcomes were recorded. Each additional year of steroid therapy ensured 47% chance of developing 1 or 2 side effects, and 64% chance of developing more than 3.
In one of the largest available cohort with the longest follow-up ever reported, we observed that the management remains need-based and patient-specific, still relying on systemic corticosteroids. The full article you can find here.
Several conditions have clinical and laboratory features that can mimic those present in Systemic Lupus Erythematosus (SLE). Some of these “SLE mimickers” are very common, such as rosacea which can be mistaken for the butterfly rash, while others such as Kikuchi disease, type-1 interferonopathies, Castleman’s disease, prolidase deficiency, angioimmunoblastic T-cell lymphoma, Evans’ syndrome in the context of primary immune deficiencies and the autoimmune lymphoproliferative syndrome are exceptionally uncommon. A proper diagnosis of SLE must therefore be based upon a complete medical history as well as on the adequate constellation of clinical or laboratory findings. While there is no single test that determines whether a patient has lupus or not, the search for auto-antibodies towards nuclear antigens is a key step in the diagnosis strategy, keeping in mind that ANAs are not specific for SLE. In case of persistent doubt, patients should be referred to reference centers with experience in the management of the disease. The full article you can find here.
Budd-Chiari syndrome (BCS) is a rare but fatal disease caused by obstruction in the hepatic venous outflow tract.
The aim of this review article is to provide an update of the pathophysiology, aetiology, diagnosis, management and follow-up of BCS by analyzing recent literature and using Medline, PubMed and EMBASE databases.
Primary BCS is usually caused by thrombosis and is further classified into “classical BCS” type where obstruction occurs within the hepatic vein and “hepatic vena cava BCS” which involves thrombosis of the intra/suprahepatic portion of the inferior vena cava (IVC). BCS patients often have a combination of prothrombotic risk factors. Aetiology and presentation differ between Western and certain Asian countries. Myeloproliferative neoplasms are present in 35%-50% of European patients and are usually associated with the JAK2-V617F mutation. Clinical presentation is diverse and BCS should be excluded in any patient with acute or chronic liver disease. Non-invasive imaging (Doppler ultrasound, computed tomography, or magnetic resonance imaging) usually provides the diagnosis. Stepwise management strategy includes anticoagulation, treatment of identified prothrombotic risk factors, percutaneous revascularisation and transjugular intrahepatic portosystemic stent shunt to re-establish hepatic venous drainage, and liver transplantation in unresponsive patients. This strategy provides a 5-year survival rate of nearly 90%. Long-term outcome is influenced by any underlying haematological condition and development of hepatocellular carcinoma. The full article you can find here.
Empirical evidence on depression and anxiety in patients with rare diseases is scarce but can help improve comprehensive treatment. The objectives of this study were to investigate the frequency of depression and anxiety in this heterogeneous population and to examine aspects associated with increased psychopathology.
N = 300 patients with 79 different rare diseases participated in a cross-sectional online study. No diagnosis-related differences were found in depression while anxiety seems to be particularly frequent in patients with rare diseases of the circulatory system. Supporting patients in coping with their disease may help reduce psychopathology and therefore improve overall health. You can find the full article here.