6,136 results match your criteria exceedingly rare


A Diagnostic Quagmire: PFIC5 Presenting as a Rare Cause of Neonatal Cholestasis.

ACG Case Rep J 2021 Apr 14;8(4):e00558. Epub 2021 Apr 14.

Division of Pediatric Gastroenterology, Davis Department of Pediatrics, University of California-Davis, Sacramento, CA.

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive disorders defined by defects in bile excretion and transport. We describe a 6-week-old boy from Micronesia presenting with failure to thrive and jaundice. His diagnostic workup was remarkable for direct hyperbilirubinemia, hepatitis, and hepatic ultrasound with possible portosystemic shunting. Read More

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Blastomyces Induced Otomastoiditis With Local Soft Tissue Invasion: A Case Report.

Ear Nose Throat J 2021 Apr 18:1455613211006001. Epub 2021 Apr 18.

Carle Illinois College of Medicine, Champaign, IL, USA.

The aim of this report is to document a very rare case of mastoiditis with extension into the retromastoid soft tissue and surrounding muscle. is a dimorphic fungus of endemic areas which classically infiltrates the lungs; however, dissemination presenting as otomastoiditis is exceedingly rare. The patient was an immunocompetent 27-year-old male with no significant preexisting health conditions. Read More

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A rare case of spontaneous otogenic pneumocephalus with pictorial illustration of temporal evolution.

J Clin Neurosci 2021 May 20;87:132-136. Epub 2021 Mar 20.

Department of Diagnostic Imaging, National University Hospital, National University Health System, Singapore. Electronic address:

Pneumocephalus is commonly seen on imaging in the setting of craniofacial trauma, skull base tumours, intracranial infection and after neurological intervention. Spontaneous pneumocephalus in the absence of these conditions is exceedingly rare, with only approximately 30 cases reported in the literature to date. Spontaneous otogenic pneumocephalus (SOP) is believed to occur as a result of anomalous communication between the intracranial space and a hyper-pneumatised temporal bone, with either positive extra-to-intracranial pressure or negative intracranial pressure gradient. Read More

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Coronavirus-19-Associated Retinopathy.

Ocul Immunol Inflamm 2021 Apr 15:1-2. Epub 2021 Apr 15.

Department of Pathology, University of Michigan, Ann Arbor, MI, USA.

: To describe the first case of Coronavirus disease-2019 (COVID-19) vision loss from an acute outer retinopathy. A retrospective case report from a tertiary referral center using multimodal retinal imaging and clinical examination findings A 40-year-old female developed significant vision loss in her right eye shortly after developing fever and myalgias. She was found to be COVID positive, while her systemic laboratory evaluation was otherwise unremarkable. Read More

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Contributions of Real-World Evidence and Real-World Data to Decision-Making in the Management of Soft Tissue Sarcomas.

Oncology 2021 Apr 14;99 Suppl 1:3-7. Epub 2021 Apr 14.

Cancer Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.

Real-world data are defined as data relating to any aspect of a patient's health status collected in the context of routine health surveillance and medical care delivery. Sources range from insurance billing claims through to electronic surveillance data (e.g. Read More

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Primer malignant giant cell tumour of kidney: a case report.

Ann R Coll Surg Engl 2021 Apr 14. Epub 2021 Apr 14.

Sitki Kocman University, Mugla, Turkey.

Osteoclast-like giant cell tumours of the kidney are extremely rare and usually accompanied by a conventional urothelial neoplasm such as papillary, transitional renal cell, or sarcomatoid carcinoma. Although they have morphological features similar to those of the giant cell tumours in the skeletal system, their counterparts in the urinary system show highly malignant features. Our case is the third primer malignant giant cell tumour of the kidney in the literature. Read More

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Histiocytic and follicular dendritic cell sarcoma: Diagnostically challenging rare entities.

Indian J Pathol Microbiol 2021 Apr-Jun;64(2):316-322

Department of Oncopathology, The Gujarat Cancer and Research Institute, New Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat, India.

Background: Follicular dendritic cell sarcomas (FDCSs) and histiocytic sarcomas (HSs) are exceedingly rare tumors. Most of the data on those entities are based on case reports or small case series. The natural history and response to different treatment modalities have not been well established. Read More

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Provision of Immediate Postpartum Long-Acting Reversible Contraceptives Before and After Wisconsin Medicaid's Payment Change.

Womens Health Issues 2021 Apr 10. Epub 2021 Apr 10.

Department of Population Health Sciences, University of Wisconsin-Madison, University of Wisconsin-Madison, Madison, Wisconsin.

Objectives: We aimed to estimate the association between Medicaid unbundling of payment for long-acting reversible contraceptives (LARC) from the global delivery fee and immediate postpartum (IPP) LARC provision, in a state outside a select group of early-adopters. We also examine the potential moderating roles of hospital academic affiliation and Catholic status on the association between unbundling and IPP LARC provision.

Methods: We used a pre-post design to examine the association between unbundling and IPP LARC provision. Read More

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Closed Reduction Percutaneous Pinning Management of a Cuboid Fracture-Dislocation in a 70-Year-Old Man: A Case Report.

JBJS Case Connect 2021 04 13;11(2). Epub 2021 Apr 13.

Department of Orthopaedic Surgery, Brigham and Women's Hospital, Boston, Massachusetts.

Case: A 70-year-old man sustained a traumatic injury to his right foot after falling from a 3-foot height. Imaging demonstrated a cuboid fracture with inferomedial dislocation and associated nondisplaced midfoot fractures. Treatment consisted of closed reduction and percutaneous pinning (CRPP) using Kirschner wire fixation. Read More

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Acral Dedifferentiated Chondrosarcoma: Report of a Case Arising in the Proximal Phalanx of the Fourth Finger.

Int J Surg Pathol 2021 Apr 13:10668969211010221. Epub 2021 Apr 13.

9310Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.

Dedifferentiated chondrosarcoma is a well-recognized entity, but its occurrence in the distal extremities is exceedingly rare. We present the case of a 49-year-old woman who experienced local recurrence of an "enchondroma" of the proximal phalanx of the fourth finger of the left hand, which had been initially treated with intralesional curettage at another hospital 4 years before, and 1 year before for a local recurrence. The imaging findings indicated an aggressive behavior, and an incisional biopsy showed a highly cellular proliferation of spindle and pleomorphic elements without evidence of matrix production intermixed with few fragments of a well-differentiated cartilaginous neoplasm with bland cellular atypia, focal nuclear hyperchromatism, and binucleation. Read More

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A rare case of ectopic ACTH syndrome caused by primary renal neuroendocrine tumor.

Endocrinol Diabetes Metab Case Rep 2021 Apr 12;2021. Epub 2021 Apr 12.

Division of Endocrinology and Metabolism, Department of Medicine.

Summary: Ectopic adrenocorticotropic hormone (ACTH) secretion is responsible for 5-15% of Cushing's syndrome (CS). Neuroendocrine tumor (NET) is a common cause of ectopic ACTH syndrome (EAS). However, primary renal NET is exceedingly rare. Read More

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Acute colonic pseudo-obstruction and rapid septic progression after transabdominal preperitoneal hernia repair: a case report.

BMC Surg 2021 Apr 12;21(1):191. Epub 2021 Apr 12.

Division of Surgery, Kenpoku Medical Center, Takahagi Kyodo Hospital, 1006-9, Agehocho, Kamitezuna, Takahagi, Ibaraki, Japan.

Background: Acute colonic pseudo-obstruction (ACPO) is a rare condition observed in patients with some underlying medical or surgical conditions. To the best of our knowledge, this is the first case report of a patient with ACPO development and rapid septic progression after laparoscopic inguinal hernia repair.

Case Presentation: A 78-year-old man who underwent transabdominal preperitoneal hernia repair (TAPP) for right inguinal hernia presented with difficulty in defecation and abdominal distension. Read More

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Severe erosive lesion of the glenoid in gouty shoulder arthritis: a case report and review of the literature.

BMC Musculoskelet Disord 2021 Apr 12;22(1):343. Epub 2021 Apr 12.

Department of Orthopedics, Inner Mongolia People's Hospital, No. 20 Zhao Wu Da Street, Inner Mongolia Autonomous Region, 010017, Hohhot, China.

Background: Gout is a metabolic disease characterized by recurrent episodes of acute arthritis. Gout has been reported in many locations but is rarely localized in the shoulder joint. We describe a rare case of gouty arthritis involving bilateral shoulder joints and leading to severe destructive changes in the right shoulder glenoid. Read More

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Estrogen-secreting adrenocortical tumor in a postmenopausal woman: a challenging diagnosis.

Endocrinol Diabetes Metab Case Rep 2021 Mar 15;2021. Epub 2021 Mar 15.

Department of Internal MedicineHematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil.

Summary: Adrenocortical carcinoma (ACC) is a malignant disorder with rapid evolution and severe prognosis in adults and most produce cortisol and androgen. Estrogen-secreting adrenocortical carcinomas are extremely rare, especially in women, tend to be larger and have worse prognosis compared with other types of ACCs. We report the case of a 58-year-old woman who presented with bilateral breast enlargement and postmenopausal genital bleeding. Read More

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Hypereosinophilia in Solid Tumors-Case Report and Clinical Review.

Front Oncol 2021 24;11:639395. Epub 2021 Mar 24.

Department of Endocrinology and Internal Medicine, Medical University of Gdańsk, Gdańsk, Poland.

Background: Renal cell cancer may cause various paraneoplastic syndromes; however, paraneoplastic hypereosinophilia occurs exceedingly rare. Thus far, only two cases of clear cell renal cell carcinoma (CCRCC) associated with hypereosinophilia have been reported. In this paper, we present a case of paraneoplastic hypereosinophilia associated with renal cell carcinoma and a review of the reported cases of hypereosinophilia in solid tumors. Read More

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Intraoperative Kirschner Wire Breakage in a Pediatric Supracondylar Humerus Fracture.

Cureus 2021 Mar 10;13(3):e13794. Epub 2021 Mar 10.

Blooming Buds Centre for Pediatric Orthopaedics, Deenanath Mangeshkar Hospital and Research Centre, Pune, IND.

A displaced supracondylar humerus in a child is usually treated with closed reduction and percutaneous Kirschner (K)-wire fixation. The procedure is straightforward and usually yields excellent outcomes. In general, intraoperative complications are uncommon and intraoperative complications related to K-wires are exceedingly rare. Read More

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Disk Battery as a Vaginal Foreign Body in a Five-Year-Old Preadolescent Child.

Cureus 2021 Mar 6;13(3):e13727. Epub 2021 Mar 6.

College of Graduate Health Sciences, The University of Tennessee Health Science Center, Memphis, USA.

The self-introduction of batteries into the vagina is exceedingly infrequent among preadolescents, with only six cases have been recorded in the English-language PubMed-indexed literature. Herein, we present the case of a five-year-old female child who presented with an 18-month history of recurrent ill-smelling vaginal discharge. Pelvic radiograph displayed a radio-opaque object, most likely representing a disk battery inside her vagina. Read More

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Papillary and Medullary Thyroid Carcinomas Presenting as Collision Tumors: A Case Series of 21 Cases at a Tertiary Care Cancer Center.

Head Neck Pathol 2021 Apr 11. Epub 2021 Apr 11.

Homi Bhabha National Institute, Mumbai, 400012, India.

Collision tumor is the occurrence of two histologically and morphologically distinct tumors within the same organ with no histological admixture. Collision tumors of the thyroid are extremely rare constituting < 1% of all thyroid tumors. Clinical profiles and pathological features of Medullary thyroid carcinoma (MTC) and Papillary thyroid carcinoma (PTC) presenting as Collision tumors of thyroid, diagnosed between 2009 and 2019, at a tertiary care cancer center were retrospectively analyzed. Read More

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Innumerable hemorrhagic brain metastases from a neuroendocrine tumor grade-1 with prolonged natural history.

Int J Surg Case Rep 2021 Apr 1;82:105855. Epub 2021 Apr 1.

King Faisal Specialist Hospital and Research Centre, Department of Neurosciences, Division of Neurosurgery, Riyadh, Saudi Arabia. Electronic address:

Background: Neuroendocrine tumors (NET) are rare tumors with a low incidence of brain metastasis, especially in grade 1 NET. The most common source of brain metastasis is the lung. We present an unusual case of NET grade 1 with multiple hemorrhagic brain metastases. Read More

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A Novel Treatment for Metastatic Serous Cystadenocarcinoma Using a Microwave Ablation: Case Report and Review of the Literature.

Pancreas 2021 Mar;50(3):434-440

From the Division of Surgical Oncology, Department of Surgery.

Abstract: The incidence of pancreatic cystic neoplasms has grown because of increased detection. Among these lesions, serous cystadenoma was traditionally thought to be universally benign and indolent. However, there is an exceedingly rare malignant variant of serous cystadenoma known as serous cystadenocarcinoma (SCAC) that can exhibit local invasion into adjacent structures, hepatic implants, and metastatic spread to the abdominal viscera. Read More

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Isolated left bundle branch block in the young: case reports and review of literature.

Pacing Clin Electrophysiol 2021 Apr 9. Epub 2021 Apr 9.

Center for Arrhythmia Care, Heart and Vascular Center, Pritzker School of Medicine of the University of Chicago, Chicago, Illinois, USA.

Isolated left bundle branch block (LBBB) aberrancy is exceedingly rare in the young and its clinical and genetic determinants remain poorly characterized. Furthermore, there is conflicting data on its natural history in the pediatric age group patients. We report the rare phenotype of isolated typical LBBB aberrancy in two healthy children, one of whom carried a likely pathogenic mutation in the coding exon 1 of NKX2-5 (p. Read More

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Born in the Purple: An Exceptional Case of Cutis Marmorata Telangiectatica Congenita.

Acta Dermatovenerol Croat 2020 Dec;28(4):247-248

Department of Dermatology, University General Hospital of Patras, Rion, Greece, Greece;

A full-term, 2-day-old female neonate with a congenital non-tender reticular patch that did not disappear with local warming was referred to our department for consultation. The family history as well as the antenatal course and delivery were unremarkable. On examination, we evidenced a fixed, marbled, bluish to deep purple lesion with a fishnet appearance extending over the right side of her body, face, and scalp. Read More

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December 2020

Multiple Primary Melanomas in a Young Patient.

Acta Dermatovenerol Croat 2020 Dec;28(7):238-239

Georgia Kyriakou, MD, MsC, cPhD., Department of Dermatology, University General Hospital of Patras, University General Hospital of Patras, Rion 265 04, Greece;

A 45-year-old HIV-negative Caucasian man with no reported past medical history was referred to our Department with a large (7 cm in diameter) oozing nodule on the occipital region of the scalp with spontaneous periodical bloody or purulent discharge. The lesion had appeared over a period of six months, had an irregular color, non-specific dermoscopic features, and resembled squamous cell carcinoma. The physical examination revealed three more atypical melanocytic lesions (on the abdomen, back, and buccal mucosa), and multiple swollen occipital, postauricular, as well as superficial and deep cervical lymph nodes. Read More

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December 2020

Endobronchial Hamartoma Presenting as Recurrent Pneumonia and Chronic Cough.

Cureus 2021 Mar 5;13(3):e13717. Epub 2021 Mar 5.

Pulmonary and Critical Care, Jersey Shore University Medical Center, Neptune, USA.

Pneumonia is an infection of the lungs that can result from various etiologies, including bronchial obstruction. It is estimated that 5.4% of community-acquired pneumonia occurs as a result of an endobronchial obstruction, classifying them as post-obstructive pneumonia. Read More

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A Rare Presentation of Asymptomatic Spontaneous Pneumomediastinum.

Cureus 2021 Mar 4;13(3):e13695. Epub 2021 Mar 4.

Internal Medicine, Osceola Regional Medical Center, Kissimmee, USA.

Spontaneous pneumomediastinum is a rare condition characterized by interstitial air within the mediastinum without any obvious causative factors. It is most commonly found in young men, and the clinical presentation is typically associated with chest or neck pain and dyspnea. Objective findings can include subcutaneous emphysema of the neck and chest. Read More

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Case Report: Abdominal Lymph Node Metastases of Parathyroid Carcinoma: Diagnostic Workup, Molecular Diagnosis, and Clinical Management.

Front Endocrinol (Lausanne) 2021 23;12:643328. Epub 2021 Mar 23.

Department of Internal Medicine I, Division of Endocrinology and Diabetes, University Hospital, University of Würzburg, Würzburg, Germany.

Parathyroid carcinoma (PC) is an orphan malignancy accounting for only ~1% of all cases with primary hyperparathyroidism. The localization of recurrent PC is of critical importance and can be exceedingly difficult to diagnose and sometimes futile when common sites of recurrence in the neck and chest cannot be confirmed. Here, we present the diagnostic workup, molecular analysis and multimodal therapy of a 46-year old woman with the extraordinary manifestation of abdominal lymph node metastases 12 years after primary diagnosis of PC. Read More

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Imaging features of myopericytoma arising from the parotid gland: Report of 2 cases and literature review.

Medicine (Baltimore) 2021 Apr;100(14):e25471

Department of Radiology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Jiefang Road 88#, Hangzhou 310009.

Rationale: Myopericytoma of the parotid gland is a rare condition of which preoperative definitive diagnosis is relatively challenging. The purpose of this case report is to highlight the radiologic features of myopericytoma of parotid gland.

Patient Concerns: A 62-year-old man presented with a history of a walnut-size mass in left parotid gland when yawned for half-month, and a 48-year-old woman complaint about a grape-size, painless mass behind the right ear for a month. Read More

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Hangings: Lessons Learned from the Coroner's Office.

J Surg Res 2021 Apr 5;264:158-162. Epub 2021 Apr 5.

Division of Acute Care Surgery, LAC+USC Medical Center, University of Southern California, Los Angeles, California.

Background: Hangings are an infrequent wounding mechanism among patients arriving alive to hospital but are frequently encountered by the Coroner's Office. It is unclear if classically described hanging injuries, such as the Hangman's fracture, are common among contemporary hangings patients who typically do not suspend from height. This study was undertaken to define patient and injury characteristics after hangings causing death. Read More

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A rare case of spontaneous haemothorax in patient with haemophilia A.

BMJ Case Rep 2021 Apr 7;14(4). Epub 2021 Apr 7.

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

Haemorrhage in patients with haemophilia is common after minor trauma but may occur spontaneously. Despite the diversity of bleeding sites, spontaneous haemothorax, on a non-traumatic basis, is an exceedingly rare event and only a few cases had been reported. We present a case of a 43-year-old man with a history of haemophilia A who had pleuritic chest pain for 1 day without significant history of trauma. Read More

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Mysterious visitor in the bladder: Ureteral fibroepithelial polyp.

Arch Esp Urol 2021 Apr;74(3):359-362

Department of Urology. Mugla Sıtkı Kocman University. School of Medicine. Mugla. Turkey.

Objectives: We present a unique case with a ureteral fibroepithelial tumor originating from the ureter, which could be confused with a bladder tumor on ultrasound examination due to its movement in and out of the bladder. METHODS: In cystoscopy, a papillary tumor lesion emerging from the right ureteral orifice was seen. After scanning the other quadrants, however, the tumor was not observed at the right ureteral orifice. Read More

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