OpenMed/multicare-articles huggingface dataset:
Comparison of Diagnostic Cytomorphology of Natural Killer/T-Cell Lymphoma (Nasal Type) in Conventional Smears, Liquid-Based Preparations, and Histopathology
Authors: Chih-Yi Liu, Hui-Chih Tsai
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Natural killer (NK)/T-cell lymphoma is formally referred to as extranodal NK/T-cell lymphoma, nasal type (ENKTCL), in the 2008 and 2016 World Health Organization (WHO) classifications. NK/T-cell lymphoma, nasal type, is a rare but clinically important lymphoid neoplasm. It is the predominant type of extranodal lymphoma associated with the Epstein-Barr virus (EBV). NK/T-cell lymphoma is marked by a wide cytomorphological spectrum. The cytological findings may be so subtle that NK/T-cell lymphoma could possibly be easily overlooked. Here, we report a case of NK/T-cell lymphoma involving the sinonasal region with lymph node involvement. Fine needle aspiration of the neck lymph node and punch biopsy of the nasal mucosa were performed. The diagnosis of NK/T-cell lymphoma was confirmed based on pathological and immunohistochemical analyses, as well as in situ hybridization for EBV-encoded mRNA (EBER). The present case report underlines the importance of prompt clinicopathological assessment in suspected cases. The comparison of cytomorphologic features of NK/T-cell lymphoma in various specimens is presented.
Combined Treatment of a Gallbladder Volvulus with a Common Bile Duct Obstruction
Authors: M Laydi, K Charpentier, B Paquette, B Heyd
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Gallbladder volvulus is a rare disease and can lead to an acute cholecystitis. We report the case of an elderly woman with a gallbladder volvulus, diagnosed at CT scan and treated by surgery and endoscopic sphincterotomy.
Right-sided pyriform sinus fistula: a case report and review of the literature
Authors: Rachel B Cain, Peter Kasznica, William J Brundage
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

Objectives. Pyriform sinus fistulae arise from disturbances in the development of the fetal third and fourth branchial pouches and are predominantly found on the left side. We report the rare case of a right-sided pyriform sinus fistula presenting as a lateral neck abscess. Study Design. Case report. Methods. A 24-year-old woman presented with a two-week history of right-sided neck abscess. A fluoroscopic sinogram revealed a fistulous tract extending from the abscess to the apex of the right pyriform sinus. It was determined that the fistula was likely a third or fourth branchial remnant, a rare right-sided finding. Chemocauterization of the fistulous tract with 40% trichloroacetic acid was used to successfully treat the patient. Results. Approximately 93-97% of branchial pouch anomalies are left sided. Treatment options include surgical excision and cauterization. Conclusions. Branchial cleft cyst and pyriform sinus fistula must be considered in the diagnosis of cervical abscess in either side of the neck.
Case Report: Drug-Induced (Neuro) Sarcoidosis-Like Lesion Under IL4 Receptor Blockade With Dupilumab
Authors: Stergios Tsitos, Lisa Catherina Niederauer, Paula Albert I Gracenea, Johanna Mueller, Andreas Straube, Louisa Von Baumgarten
Journal: Front Neurol (2022)
Keywords: il-4 receptor alpha, drug-induced sarcoid-like reaction, dupilumab, immune-related side effect, neurosarcoidosis
MeSH terms: Case Reports

Dupilumab is a new monoclonal antibody inhibiting IL-4 and IL-13 signaling transduction through the blockage of the α-subunit of the IL-4 receptor. It is used to treat type 2 inflammatory disorders including atopic dermatitis, asthma, and chronic rhinosinusitis. Here we describe the case of a 79-year-old male presenting with visual hallucinations, disorientation, cognitive decline, and behavioral changes, evolving over 3 weeks. He had been under treatment with dupilumab for atopic dermatitis for the previous 4 months. Radiology and CSF analysis showed a granulomatous meningoencephalitis suspicious of sarcoidosis. Underlying infectious and antibody-mediated causes for meningoencephalitis were ruled out. Pausing Dupilumab and steroids (i.v. and oral) led to rapid clinical improvement. Inhibition of IL-4 and IL-13, key players in the differentiation and activation of Th2 cells, may shift the Th1/Th2- ratio toward an excessive Th1-mediated response, granuloma formation, and drug-induced (neuro)sarcoidosis reaction. Attention should be raised to this side effect.
Spontaneous spleen rupture in a teenager: an uncommon cause of acute abdomen
Authors: Verroiotou Maria, Al Mogrampi Saad, Ioannis Fardellas
Journal: Case Rep Med (2013)

Spontaneous spleen rupture is a rare complication of infectious diseases and it can become a potentially life-threatening condition if not diagnosed in time. A 17-year-old Greek female presented to the ER due to acute abdominal pain, mainly of the left upper quadrant. She had no recent report of trauma. The patient was pale, her blood pressure was 90/70 mmHg, and her pulse was 120 b/min. Clinical examination of the abdomen revealed muscle contraction and resistance. The patient was submitted to an ultrasound of the upper abdomen and to a CT scanning of the abdomen that revealed an extended intraperitoneal hemorrhage due to spleen rupture. Due to the patient's hemodynamic instability, she was taken to the operation room and splenectomy was performed. Following a series of laboratory examinations, the patient was diagnosed to be positive for current cytomegalovirus infection. The postoperative course was uneventful, and in a two year follow-up the patient is symptom-free. Spontaneous spleen rupture due to Cytomegalovirus infection is a rare clinical entity, described in few case reports in the world literature and should always be taken into consideration in differential diagnosis of acute abdomen, especially in adolescents with no recent report of trauma.
Factitious cheilitis: a case report
Authors: Erdinc Aydin, Ozgur Gokoglu, Gamze Ozcurumez, Hakan Aydin
Journal: J Med Case Rep (2008)

Introduction:
Factitious cheilitis is a chronic condition characterized by crusting and ulceration that is probably secondary to chewing and sucking of the lips. Atopy, actinic damage, exfoliative cheilitis, cheilitis granulomatosa or glandularis, contact dermatitis, photosensitivity reactions and neoplasia should be considered in the differential diagnosis of crusted and ulcerated lesions of the lip.
Case presentation:
We present a 56 year-old female with an ulcerated and crusted lesion on her lower lip. The biopsy showed granulation tissue and associated inflammation but no malignancy. Based on the tissue examination and through clinical evaluation the diagnosis of factitious cheilitis was rendered.
Conclusion:
Thorough clinical history, utilization of basic laboratory tests and histopathologic evaluation are required to exclude other diseases and a thoruough psychiatric evaluation and treatment is vital for successful management of these patients.
Transmission of Donor-Derived Trypanosoma cruzi and Subsequent Development of Chagas Disease in a Lung Transplant Recipient
Authors: A B Corey, D Sonetti, J D Maloney, S P Montgomery, B L Rademacher, L J Taylor, J A Smith, R Striker
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Donor infection status should be considered when accepting an organ for transplant. Here we present a case of Chagas disease developing after a lung transplant where the donor was known to be Trypanosoma cruzi antibody positive. The recipient developed acute Trypanosoma cruzi infection with reactivation after treatment. Chagas disease-positive donors are likely to be encountered in the United States; donor targeted screening is needed to guide decisions regarding organ transplant and posttransplant monitoring.
Lone Hepatocellular Carcinoma: An Isolated Chest Wall Malignancy
Authors: Joseph Allencherril, Sebastian Bruera, Ronan Allencherril, Richard J Hamill
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Herein we describe the case of an elderly diabetic gentleman presenting with a two-week history of dyspnea and nonproductive cough, found to have a large left anterolateral chest wall mass. Further characterization through computed tomography (CT) of the chest revealed a soft tissue mass in the left anterior lower hemithorax found to be hepatocellular carcinoma (HCC). The liver, spleen, and pancreas were unremarkable. Diagnostic labs were unremarkable. The patient had no history of hepatitis, alcohol abuse, or illicit substance use. Pathological examination and immunohistochemical staining of the chest mass biopsy were consistent with metastatic hepatocellular carcinoma (HCC). The patient opted to pursue no further medical intervention and expired two weeks later. To the authors' knowledge, this is one of very few descriptions of isolated hepatocellular carcinoma found in the absence of a primary liver lesion and classical risk factors for hepatocarcinogenesis. This case highlights that HCC may present independently of liver lesions seen on imaging in a patient without clear signs or symptoms of liver. HCC should be considered in cases of isolated tumors with unclear primaries as ectopic carcinogenesis and occult primary malignancy are possibilities.
Pediatric Peritoneal Epithelial Malignant Mesothelioma Case Report
Authors: Elizabeth Bellew, Samantha Lee, Hiren Patel, Carolyn Fein Levy, Rachelle Goldfisher, John Amodio
Journal: Case Rep Radiol (2021)
MeSH terms: Case Reports

We present a 14-year-old boy with peritoneal epithelial malignant mesothelioma (PEMM). While pathology is required to make this diagnosis, radiology plays a crucial role throughout the clinical course of this disease. The key imaging characteristics of peritoneal mesothelioma have been previously well-described in the adult population, but there are rare reports in the pediatric population. This pediatric report highlights the multidimensional use of imaging in this disease, from the initial evaluation to therapeutic supplementation and subsequent follow-up.
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies
Authors: Qiping Hu, Hongyan Chai, Wei Shu, Peining Li
Journal: Mol Cytogenet (2018)
Keywords: chromosome therapy, diagnostic guidelines, dynamic mosaicism, genomic imbalances, online registry, ring chromosome, ring chromosome instability, syndromic phenotypes
MeSH terms: Review

Background:
Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes.
Methods:
A web-based interactive 'Human Ring Chromosome Registry' using Microsoft Access based relational database was developed to present genetic and phenotypic findings of ring chromosome cases. Chinese ring chromosome cases reported in the literature was reviewed and compiled as a testing data set to validate this registry.
Results:
A total of 113 cases of ring chromosomes were retrieved in all chromosomes except for chromosomes 16, 17 and 19. The most frequently seen ring chromosomes by a decreasing order of relative frequencies were ring 13 (14%), X (12%), 22 (10%), 15 (9%), 14 (7%), and 18 (7%). Genomic imbalances were detected in 18 out of 19 cases analyzed by microarray or sequencing. Variable clinical manifestations of developmental delay, dysmorphic facial features, intellectual disability, microcephaly, and hypotonia were noted in most autosomal rings. Chromosomal specific syndromic phenotypes included Wolf-Hirschhorn syndrome in a ring chromosome 4, cri-du-chat syndrome in a ring chromosome 5, epilepsy in ring chromosomes 14 and 20, Turner syndrome in ring chromosome X, and infertility in ring chromosomes 13, 21, 22 and Y. Effective growth hormone supplemental treatment for growth retardation in a ring chromosome 18 was noted.
Conclusions:
Based on findings from these Chinese ring chromosome cases, guidelines for cytogenomic diagnosis and criteria for case registration were proposed. Further research to define underlying mechanisms of ring chromosome formation and dynamic mosaicism, to delineate the genotype-phenotype correlations, and to develop chromosome therapy for ring chromosomes were discussed.
Clear cell carcinoid tumor of the distal common bile duct
Authors: Takeshi Todoroki, Takaaki Sano, Shuji Yamada, Nobutsune Hirahara, Naotaka Toda, Katsuhiko Tsukada, Ryuji Motojima, Teiji Motojima
Journal: World J Surg Oncol (2007)
MeSH terms: Carcinoid Tumor / diagnosis, Carcinoid Tumor / surgery, Common Bile Duct Neoplasms / diagnosis, Common Bile Duct Neoplasms / surgery, Pancreaticoduodenectomy / methods, Case Reports, Review, Adenocarcinoma, Clear Cell / diagnosis, Adenocarcinoma, Clear Cell / pathology, Adenocarcinoma, Clear Cell / surgery, Aged, Biopsy, Needle, Carcinoid Tumor / pathology, Cholangiopancreatography, Endoscopic Retrograde, Cholangiopancreatography, Magnetic Resonance, Common Bile Duct Neoplasms / pathology, Follow-Up Studies, Humans, Immunohistochemistry, Laparotomy / methods, Male, Neoplasm Staging, Risk Assessment, Tomography, X-Ray Computed, Treatment Outcome, Ultrasonography, Doppler

Background:
Carcinoid tumors rarely arise in the extrahepatic bile duct and can be difficult to distinguish from carcinoma. There are no reports of clear cell carcinoid (CCC) tumors in the distal bile duct (DBD) to the best of our knowledge. Herein, we report a CCC tumor in the DBD and review the literature concerning extrahepatic bile duct carcinoid tumors.
Case presentation:
A 73-old man presented with fever and occult obstructive jaundice. Ultrasonography, computed tomography (CT) and magnetic resonance cholangiopancreaticography (MRCP) demonstrated a nodular tumor projection in the DBD without regional lymph node swelling. Under suspicion of carcinoma, we resected the head of the pancreas along with 2nd portion duodenectomy and a lymph node dissection. The surgical specimen showed a golden yellow polypoid tumor in the DBD (0.8 x 0.6 x 0.5 cm in size). The lesion was composed of clear polygonal cells arranged in nests and a trabecular pattern. The tumor invaded through the wall into the fibromuscular layer. Immunohistochemical stains showed that neoplastic cells were positive for neuron-specific enolase (NSE), chromogranin A, synaptophysin, and pancreatic polypeptide and negative for inhibin, keratin, CD56, serotonin, gastrin and somatostatin. The postoperative course was uneventful and he is living well without relapse 12 months after surgery.
Conclusion:
Given the preoperative difficulty in differentiating carcinoid from carcinoma, the pancreaticoduodenectomy is an appropriate treatment choice for carcinoid tumors located within the intra-pancreatic bile duct.
Recurrent aggressive angiomyxoma presented with perianal mass and typical imaging swirl sign
Authors: Ahmed Abduljabbar, Mohammad Wazzan
Journal: Int J Surg Case Rep (2020)
Keywords: aam, aggressive angiomyxoma, pelvic tumor, swirl sign
MeSH terms: Case Reports

Introduction:
Aggressive angiomyxoma is a rare pelvic neoplasm that arises commonly in middle aged women and usually has delayed presentation due to its typically silent and slow growing behavior.
Clinical presentation:
A 47-year-old woman presented at our hospital with recurrent attacks of pelvic pain and a perianal bulge. Her past medical history was relevant due to previous en bloc resection of a right ovarian angiomyxoma. Current cross sectional imaging, including computed tomography and magnetic resonance imaging, was performed and showed evidence of local recurrence. Various available treatment options were offered to the patient.
Discussion:
The imaging features of the aggressive angiomyxoma were peculiar and showed a swirl and lamellate appearance in T1 and T2 weighted images.
Conclusion:
A locally aggressive tumor with benign histopathology and swirl sign in imaging is highly suggestive of aggressive angiomyxoma.
Successful treatment with pemetrexed, Carboplatin, and bevacizumab for platinum-resistant adenocarcinoma of the lung
Authors: Sae Wada, Nobukazu Fujimoto, Kenichi Gemba, Michiko Asano, Yasuko Fuchimoto, Katsuichiro Ono, Shinji Ozaki, Takumi Kishimoto
Journal: Case Rep Oncol Med (2012)
MeSH terms: Case Reports

WE PRESENT TWO CASES OF RELAPSED ADENOCARCINOMA OF THE LUNG: a 50-year-old male and a 67-year-old male. Both patients had previously been treated with platinum-containing systemic chemotherapy. In both cases, significant clinical efficacy was demonstrated with combination chemotherapy consisting of pemetrexed, carboplatin, and bevacizumab as salvage treatment. Adverse events were mild. This regimen might be a viable therapeutic option even after heavy treatment such as platinum-containing chemotherapy, especially for patients with preserved organ function and good performance status.
Bilateral Mycobacterium chelonae Keratitis after Phacoemulsification Cataract Surgery
Authors: Jaime D Martinez, Guillermo Amescua, Jesus Lozano-Cárdenas, Leejee H Suh
Journal: Case Rep Ophthalmol Med (2017)
MeSH terms: Case Reports

The purpose of this manuscript is to report the case of an 81-year-old patient who presented with bilateral keratitis after phacoemulsification surgery. Cultures came back positive for Mycobacterium chelonae. Despite aggressive topical and systemic antimicrobial treatment, the patient developed a corneal perforation in both eyes, treated with corneal glue in the right eye and corneoscleral patch in the left eye. After two years of follow-up, patient was free of infection in the right eye with visual acuity of 20/200 and the left eye progressed to phthisis bulbi. We present an unusual case of bilateral Mycobacterium chelonae keratitis associated with phacoemulsification cataract surgery. This case represents the importance of making clinicians aware of this devastating infection and highlights the need for better management to improve outcomes.
Two Case Reports of Benign Testicular Mesothelioma and Review of the Literature
Authors: Cristobal Ramirez Sevilla, Carme Admella Salvador, Josep Feliu Canaleta, Juan Llopis Manzanera, Miguel Angel Barranco Sanz, Juan Antoni Romero Martin, Sergi Bernal Salguero
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Mesothelioma is usually diagnosed in people over the age of 50 with large history of asbestos-related exposure. It is frequently located in pleural cavity, peritoneum, and pericardium. At the testicles the mesothelioma had been reported first in 1957 like a malignant non-germ-cells tumor. The objective is to present two case reports of benign testicular mesothelioma and review of the literature.
Hyper-IgE and Carcinoma in CADINS Disease
Authors: Leonora Pietzsch, Julia Körholz, Felix Boschann, Mildred Sergon, Batsukh Dorjbal, Debra Yee, Vanessa Gilly, Eva Kämmerer, Diana Paul, Clemens Kastl, Martin W Laass, Reinhard Berner, Eva Maria Jacobsen, Joachim Roesler, Daniela Aust, Min A Lee-Kirsch, Andrew L Snow, Catharina Schuetz
Journal: Front Immunol (2022)
Keywords: cadins, card11 deficiency, hpv driven carcinoma, anal carcinoma, dupilumab, hyper-ige-syndrome, mycosis fungoides, severe eczema
MeSH terms: Carcinoma, Dermatitis, Atopic / drug therapy, Dermatitis, Atopic / genetics, Job Syndrome / diagnosis, Job Syndrome / genetics, Papillomavirus Infections, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Child, Humans, Immunoglobulin E, Immunoglobulin E

Background:
Atopic dermatitis (AD) affects up to 25% of children and 10% of adults in Western countries. When severe or recurrent infections and exceedingly elevated serum IgE levels occur in AD patients, an inborn error of immunity (IEI) may be suspected. The International Union of Immunological Societies classification lists variants in different genes responsible for so-called Hyper-IgE syndromes. Diagnosing an underlying IEI may influence treatment strategies.
Methods:
Clinical and diagnostic workup of family members are presented including a detailed immunological description and histology of the carcinoma. Functional testing of the novel variant in CARD11 underlying 'CARD11-associated atopy with dominant interference of NF-kB signaling' (CADINS) was performed.
Results:
We report on an 18-year-old patient with a long-standing history of infections, accompanied by hypogammaglobulinemia, intermittent agranulocytosis, atopy, eosinophilia and colitis. The working diagnosis of common variable immunodeficiency was revised when a novel heterozygous CARD11 variant [c.223C>T; p.(Arg75Trp)] was identified. Functional studies confirmed this variant to have a dominant negative (DN) effect, as previously described in patients with CADINS. Five other family members were affected by severe atopy associated with the above variant, but not hypogammaglobulinemia. Malignancies occurred in two generations: an HPV-positive squamous cell carcinoma and a cutaneous T-cell lymphoma. So far, one patient is under treatment with dupilumab, which has shown marked benefit in controlling severe eczema.
Conclusion:
The phenotypic spectrum associated with heterozygous CARD11 DN mutations is broad. Partial T-cell deficiency, diminished IFN-γ cytokine and increased IL-4 production, were identified as disease-causing mechanisms. Malignant disease associated with germline CARD11 DN variants has only been reported sporadically. HPV vaccination in teenage years, and cytology screening analogous with routine cervical swabs may be recommended. Treatment with dupilumab, a monoclonal antibody blocking interleukin-4- and interleukin-13 signaling, may be of benefit in controlling severe and extended AD for some patients as reported for STAT3 loss-of-function.
Missed presentation of Crohn's disease in a patient with a fistulating thigh abscess: a case report
Authors: Deborah Ferguson, Aravind Suppiah, Eleanor Richards, Jeremy Wilson, Deepak Pai, Asit Kar
Journal: Cases J (2010)

Background:
Musculoskeletal presentations of Crohn's disease are rare and they include psoas abscess, thigh abscesses and in extreme cases septic arthropathy.
Case presentation:
Herein, we present a 53 year old gentleman with bilateral thigh fistulae discovered to be a new diagnoses of extra-intestinal Crohn's disease
Conclusion:
It is important to consider Crohn's disease in patients that present with unusual or persistent fistulae and to consider this essential when there are atypical organisms present.
Necrotizing Fasciitis of the Breast: Case Report with Literature Review
Authors: Basem ALShareef, Nourah ALSaleh
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Necrotizing fasciitis is a life-threatening aggressive soft tissue infection which usually affects the extremities, abdominal wall, or perineum. Breasts are rarely affected, with most cases presenting after trauma or surgical intervention. It may be misdiagnosed as abscess or cellulitis, leading to treatment delays. Here, we report a case of necrotizing fasciitis affecting both breasts in a 60-year-old female. Treatment included core biopsy managed with intravenous antibiotic and surgical debridement followed by a simple mastectomy. Currently, the patient is disease-free with a completely healed wound.