Respiratory manifestation of yellow nail syndrome: a case report and literature review.
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ABSTRACT:
SUBMITTER: Xu S
PROVIDER: S-EPMC8670787 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. YNS is diagnosed based on a triad associating yellow nail discoloration, pulmonary manifestations (chronic cough, bronchiectasia, pleural effusion) and lower limb lymphedema. Chronic sinusitis is frequently associated with the triad. YNS etiology remains unknown but a role of lymphatic impairment is usually evoked. YNS is more frequently isolated but may be associated in rare cases with autoimmune diseases, other clinical manifestations implicating lymphatic functions or cancer and, hence, is also considered a paraneoplastic syndrome. YNS management is symptomatic and not codified. YNS can resolve spontaneously. Oral vitamin E alone or even better when associated with triazole antifungals may achieve partial or total disappearance of nail discoloration. Pleural effusion can be treated surgically, with decortication/pleurectomy or pleurodesis. Antibiotic prophylaxis is prescribed for bronchiectasia with chronic sputum production. Lymphedema treatment is based on low-stretch bandages and the wearing of elastic compression garments combined with skin care, exercises and, as needed, manual lymph drainage.
| S-EPMC5327582 | biostudies-literature
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:Good syndrome (GS) is a rare acquired immunodeficiency disease characterized by the presence of thymoma with combined B and T cell immunodeficiency in adults. Recurrent bacterial infections, particularly sinopulmonary infections caused by encapsulated bacteria, remain the most common infective presentation of GS; however, relapsing viral infections have also been reported, likely due to impaired T cell-mediated immunity. Relapsing COVID-19 infection, however, has not been previously reported as a manifestation of GS. We present two cases of relapsing COVID-19 infection in patients with GS; in one case, relapsing COVID-19 was the first manifestation of newly diagnosed GS.
| S-EPMC9809144 | biostudies-literature
Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
| PRJEB72347 | ENA
Project description:BackgroundKawasaki disease shock syndrome is a relatively new and rare complication of Kawasaki disease first described in 2009.Case presentationThis report describes a two-year-old Arab descent female presenting with a history of high-grade fever of 2 days duration with non-specific signs of viral illness and erythematous rash. The patients' condition deteriorated rapidly requiring admission to intensive care unit. In the intensive care unit, she developed a right upper quadrant mass that was diagnosed as hydrops of the gallbladder by ultrasonography. After one dose of intravenous immunoglobulin, the patient started to recover and was transferred out of intensive care after 2 days.ConclusionAmong the complications of Kawasaki disease, shock syndrome is rare and usually will have deleterious results if not diagnosed and managed promptly.
| S-EPMC6706932 | biostudies-literature
Project description:Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. Methods: The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. The search time limit, using "3p deletion syndrome" and "BRPF1" as keywords, was from the creation of the database up to June 2020. Related data were reviewed. Results: The proband was a male child with general developmental and intellectual disabilities, special facial features and congenital heart disease. The child was the parents' first pregnancy and first born. Gene microarray analysis showed a 10.095 Mb deletion in the 3p26.3-p25.3 region, resulting in a heterozygous mutation of the BRPF1 gene; thus, the patient was diagnosed with 3p deletion syndrome. At the time of diagnosis, the child was 1 year of age and was responding to comprehensive rehabilitation training. A total of 29 well-documented cases were found in the literature, of which 19 cases had an onset within 1 year of birth, and mainly manifested with mental and motor development disabilities and abnormal facial features, with different gene deletions, depending on the size and location of the 3p deletion. Conclusion: The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome. The clinical phenotype of this syndrome is complex as it can include intellectual and motor development backwardness, low muscle tone, certain abnormal facial features (low hairline, bilateral ptosis, widely spaced eyes, a forward nose, left ear auricle deformity, a high-arched palate, a small jaw), and the deformation of systems such as the gastrointestinal tract and the urinary tract malformation or symptoms of epilepsy. As clinical manifestations can be relatively mild, the syndrome is easy to miss or misdiagnose. Clinical workers need to be aware of this disease when they find that children have special features, such as stunted growth, low muscle tone or ptosis, and it needs to be diagnosed through genetic testing. Most children are able to develop certain social skills after rehabilitation treatment.
| S-EPMC7902511 | biostudies-literature
Project description:Hypothenar hammer syndrome is a rare but serious cause of digital ischemia and morbidity. Presented here is a case of a manual laborer who had symptoms of digital ischemia after acute hyperextension injury to the ring finger. Magnetic resonance imaging revealed thrombosed ulnar artery aneurysm. Etiology, presentation, and current treatments are reviewed.
| S-EPMC6517613 | biostudies-literature
Project description:BackgroundBerry syndrome, a rare combination of cardiac anomalies, consists of aortopulmonary window (APW); aortic origin of the right pulmonary artery; interrupted aortic arch (IAA) or hypoplastic aortic arch or coarctation of the aorta; and an intact ventricular septum. There is lack of review articles that elucidate the clinical features, diagnosis, treatment, and outcomes of Berry syndrome. This publication systematically reviews the 89 cases published since 1982 on Berry syndrome.Case presentationA 38-year-old woman presented with a loud murmur and cyanosis. Transthoracic echocardiography demonstrated a severely dilated aorta and main pulmonary artery with a large intervening defect. Distal to the APW, the ascending aorta gave rise to the right pulmonary artery. Additionally, a type A IAA, an intact ventricular septum, and a large patent ductus arteriosus were revealed. Computed tomography angiography with 3-dimensional reconstruction confirmed above findings. This is the first report of a patient of this age with Berry syndrome who did not undergo surgery.ConclusionsBerry syndrome is a rare but well-identified and surgically correctable anomaly. Patients with Berry syndrome should be followed up for longer periods to better characterize long-term outcomes.
| S-EPMC7788879 | biostudies-literature
Project description:Lemierre's syndrome has been shown to be increasing in incidence in the past 20 years with one popular suggesting that said rise occurred from less aggressive antibacterial coverage. We report a case of Lemierre's syndrome and also reviewed the 15 most recent case reports. A previously healthy 25 year old male who initially developed sore throat and flu-like symptoms, was prescribed antibacterials as an outpatient but was hospitalized for worsening symptoms. He was later diagnosed with Lemierre's syndrome and improved clinically with IV antimicrobials alone. From our concise literature review, we determined that a decrease in antibiotic prescriptions may not fully explain why the incidence of Lemierre's has been increasing. Thus, future research should be focused in evaluating possible worsening susceptibilities to antibiotics and improvements on detection. We also advise physicians to be aware of the signs and symptoms of this rare but potentially fatal condition as well as the available detection methods and treatment.
| S-EPMC5552024 | biostudies-other
Project description:Described in 1962, the opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare, neurologically debilitating disorder with distinct characteristics that may begin in childhood or adult life. Although many cases remain without etiological diagnosis, others are related to neoplasms and infectious diseases. We report a 41-year-old previously healthy male with an 8-day history of headache, vertigo, nausea, vomiting, and nystagmus. After a normal brain computed tomography and lymphocytic pleocytosis in cerebral spinal fluid (CSF), intravenous acyclovir therapy was initiated in the emergency room. On the third day of hospitalization, the diagnosis of OMAS was made based on the presence of chaotic and irregular eye movements, dysarthric speech, gait instability, generalized tremor, and myoclonic jerks. In the face of his neurological worsening, ampicillin followed by nonspecific immunotherapy (methylprednisolone and intravenous immunoglobulin) was prescribed, with mild clinical improvement. After a thorough laboratory workup, the definite diagnosis of neuroborreliosis was established and ceftriaxone (4 g/daily/3 wks) and doxycycline (200 mg/day/2 mo) was administered. Toward the end of the ceftriaxone regimen, the neurologic signs substantially improved. We believe this to be the first case description of OMAS as clinical presentation of Brazilian Lyme disease-like syndrome (Baggio-Yoshinari syndrome).
| S-EPMC5470562 | biostudies-other