"case report"

Melanoma case reports show variations in treatment by age and sex.

Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal congenital genetic disorder characterized by painful blistering of the skin and mucous membranes in response to minor trauma or pressure. JEB is classified roughly into 2 subtypes: JEB-Herlitz is caused by mutations on genes encoding laminin-332. The authors present a patient consulted with a suspicion of primary immunodeficiency due to skin sores that started at the age of 1 month and a history of 3 siblings who died with similar sores, who was diagnosed with JEB-Herlitz after detecting a homozygous LAMC2 gene mutation in WES analysis...

Blau syndrome is a rare familial autoinflammatory disorder characterized by the triad of granulomatous dermatitis, polyarthritis, and uveitis. Blau syndrome exhibits an autosomal dominant inheritance pattern and can be caused by a gain-of-function mutation in nucleotide-binding oligomerization domain 2 (NOD2), a member of the NOD-like receptor family of pattern recognition receptors. Mutations in NOD2 cause upregulation of inflammatory cytokines and resultant autoinflammation. Because of the rarity of this condition and early onset of symptoms, Blau syndrome may be misdiagnosed as juvenile idiopathic arthritis...

Patients with burn injury and inhalation injury are highly susceptible to infectious complications, including opportunistic pathogens, due to the loss of skin cover and mucosal damage of respiratory tract as well as the disruption of homeostasis. This case report, a 34-year-old man suffered critical burns, provides the first literature description of triple-impact immunoparalysis (critical burns, inhalation injury, and SARS-CoV-2 infection), leading to a lethal multifocal infection caused by several fungi including very rare environmental representatives Metschnikowia pulcherrima and Wickerhamomyces anomalus...

BACKGROUND: Mixed medullary and follicular cell-derived thyroid carcinoma (MMFCC) is characterized by the coexistence of follicular and C cell-derived tumour cell populations within the same lesion. Due to its rarity, its etiology and clinical course remain unclear, and treatment for advanced or recurrent cases has not been established. CASE PRESENTATION: We report a case of MMFCC treated with selpercatinib. The patient was a 69-year-old male presenting with tumors in the right thyroid lobe and in the upper mediastinum...

BACKGROUND: Malignant hyperthermia (MH) is a rare, life-threatening disorder of calcium homeostasis in skeletal muscle cells that is triggered by volatile anesthetics and succinylcholine, leading to a hypermetabolic reaction. The pathogenic ryanodine receptor 1 (RYR1) gene variant is critical. Patients susceptible to MH should avoid triggering agents, and total intravenous anesthesia (TIVA) is preferred. Remimazolam is safe in patients with suspected MH. CASE PRESENTATION: We present the first case of remimazolam treatment in a genetically confirmed patient with MH without MH development...

BACKGROUND: APC and MUTYH are both well-known colorectal polyposis causative genes. However, 30-50% of colorectal adenomatous polyposis cases are classified as colonic adenomatous polyposis of unknown etiology and lack identifiable pathogenic variants. Although guidelines recommend total proctocolectomy for colonic adenomatous polyposis of unknown etiology with over 100 adenomas, evidence is lacking. This study presents a unique case of localized colonic adenomatous polyposis of unknown etiology with multiple adenocarcinomas, treated with hemicolectomy and regional lymph node dissection...

Osteoid osteoma (OO) is a common, benign bone tumor. However, there are no case reports of OO associated with osteogenesis imperfecta (OI), or pathological fractures in OO. A 3-year-old girl with OI sustained a complete right tibial diaphyseal fracture. Bony fusion was completed after 4 months of conservative therapy; nevertheless, 18 months later spontaneous pain appeared at the fracture site, without any cause. Plain radiographs showed a newly apparent, rounded area of translucency 1 cm in diameter, just overlapping the previous fracture...

PURPOSE: The indications of Vibrant Soundbridge (VSB) have been expanded to include patients with conductive and mixed hearing loss due to congenital aural atresia (CAA). However, the current evidence supporting the auditory outcomes of VSB is based mainly on case reports and retrospective chart reviews. Therefore, the present systematic review aims to summarize and critically appraise the current evidence regarding the safety and effectiveness of VSB in children and adult patients with CAA...

BACKGROUND: Spontaneous clearance of chronic hepatitis C virus (HCV) is rare in adults. A T-lymphocyte response is thought to be involved in HCV-RNA clearance. Splenectomy reportedly has a beneficial effect on T cell immune function in patients with cirrhosis. To the best of our knowledge, the present report is the first to describe spontaneous clearance of serum HCV-RNA within 1 year after splenectomy in a patient with cirrhosis. CASE PRESENTATION: A 55-year-old man with HCV cirrhosis was transferred to our institution with advanced pancytopenia, splenomegaly, and gastric varices...

BACKGROUND: Gastric teratoma is an extremely rare tumor, representing <1% of all pediatric teratomas, and commonly manifests as a palpable abdominal mass. Upper gastrointestinal tract bleeding in newborns and infants is rare and is mostly caused by a benign lesion. CASE REPORT: We present a 3-month-old boy who presented with recurrent attacks of hematemesis, vomiting, and melena which on work up revealed a gastric teratoma. DISCUSSION/CONCLUSION: Owing to the unique characteristics and the extreme rarity of this entity, accurate preoperative diagnosis has remained elusive...

Pyoderma gangrenosum is an inflammatory skin disease that presents with rapidly progressive ulcers with violaceous, undermined borders. Despite most commonly affecting the lower extremities, pyoderma gangrenosum can rarely present in the genital, anal, and perineal regions. We describe two cases and report a review of published cases.

Nocardia is a rare cause of ocular infections and most commonly occurs secondary to trauma. Systemic Nocardiosis may have ocular involvement in rare cases. We report a case of disseminated nocardiosis with orbital apex involvement and endophthalmitis in an immunocompromised patient. The patient presented with respiratory sepsis, and later developed complete ptosis and ophthalmoplegia in the left eye. This was on the background of treatment with high-dose prednisolone. Magnetic resonance imaging showed enhancement of the entire clivus, extending into the left orbital apex and cavernous sinus...

Myiasis, an infestation caused by dipteran larvae, commonly known as maggots, is one of the most common parasitic skin disorders in the tropical regions. Authors report a case of cutaneous myiasis caused by Dermatobia hominis (Diptera: Oestridae) in a Polish traveller returning from a self-organized trip to South America. Species biology, prophylaxis, and medical implications of this tropical parasitosis are discussed.

Delayed union of fractures is one of the most frequent complications in orthopedic practice, especially in polytrauma patients. With the development of new methods of regenerative medicine, including the use of adipose derived stromal cells as a component of the stromal-vascular fraction (SVF), new possibilities for conservative treatment of this problem have emerged. This article presents a clinical case of conservative treatment of delayed union of a radial bone fracture using local SVF injections. In the fracture space, SVF with PRP creates a pool of cells that could differentiate towards surrounding tissue, releases various inducers of tissue growth and, via an indirect chemotactic effect on receptors, mobilizes the body's own resources and creates conditions for angiogenesis and trophism in the injured segment...

Electrical burn injuries can be catastrophic, threatening severe disability or mortality. We present a patient who suffered from electrical shock, requiring bilateral above knee amputations, right trans-radial amputation, renal replacement therapy, and veno-arterial extracorporeal life support (VA ECLS) therapy. While there exist reports of cases that have demonstrated the potential use of ECLS in burn patients with cardiogenic shock or acute respiratory distress syndrome (ARDS), this is a unique case of VA ECLS use for an electrical injury patient who developed mixed distributive-obstructive shock secondary to pulmonary embolism and sepsis...

No abstract text is available yet for this article.

Phlebosclerotic colitis (PC) is a rare type of chronic ischemic colitis. Its etiology is still unknown, and PC is also known as idiopathic mesenteric phlebosclerosis colitis. Currently, many studies have reported that long-term use of Chinese herbal medicine and drinking history are related to its pathogenesis. In the early stage of the lesion, due to insufficient understanding of PC, it is difficult to distinguish it from inflammatory bowel disease and other nonneoplastic intestinal diseases. We reported a case of severe diffuse total colon calcification with multiple misdiagnosis, summarizing and analyzing the clinical pathological characteristics to increase clinical and pathological physicians' understanding of the disease and reduce misdiagnosis...

Biliary endoprostheses are widely used in the treatment of biliary lithiasis, malignant and benign strictures, and occasionally in long-lasting biliary fistulas. They can be placed endoscopically during endoscopic retrograde cholangiopancreatography and radiologically (percutaneous) when the endoscopic route is not feasible. Complications associated with the endoscopic placement of biliary endoprostheses are well described in the literature, with migration being the most common. Intestinal obstruction is a rare complication associated with the migration of these devices...

ISSUES: To date, there has been no synthesis of research addressing the scale and nuances of the opioid epidemic in racial/ethnic minority populations in the United States that considers the independent and joint impacts of dynamics such as structural disadvantage, provider bias, health literacy, cultural norms and various other risk factors. APPROACH: Using the "risk environment" framework, we conducted a scoping review on PubMed, Embase and Google Scholar of peer-reviewed literature and governmental reports published between January 2000 and February 2024 on the nature and scale of opioid use, opioid prescribing patterns, and fatal overdoses among racial/ethnic minorities in the United States, while also examining macro, meso and individual-level risk factors...