Breast cancer is considered one of the most common cancers worldwide. The most common sites for breast cancer to metastasize are the lymph nodes, bones, lungs, brain, and liver. Involvement of the gastrointestinal tract is uncommon, and metastasis to the appendix is rare. We report a case involving a 43-year-old woman with no previous history of malignancy who presented with acute appendicitis and underwent laparoscopic appendectomy, with the final histopathological assessment revealing metastatic breast cancer.

BACKGROUND: Atypical presentations have been increasingly recognized as a significant contributing factor to diagnostic errors in internal medicine. However, research to address associations between atypical presentations and diagnostic errors has not been evaluated due to the lack of widely applicable definitions and criteria for what is considered an atypical presentation.
OBJECTIVE: The aim of the study is to describe how atypical presentations are defined and measured in studies of diagnostic errors in internal medicine and use this new information to develop new criteria to identify atypical presentations at high risk for diagnostic errors.
METHODS: This study will follow an established framework for conducting scoping reviews. Inclusion criteria are developed according to the participants, concept, and context framework. This review will consider studies that fulfill all of the following criteria: include adult patients (participants); explore the association between atypical presentations and diagnostic errors using any definition, criteria, or measurement to identify atypical presentations and diagnostic errors (concept); and focus on internal medicine (context). Regarding the type of sources, this scoping review will consider quantitative, qualitative, and mixed methods study designs; systematic reviews; and opinion papers for inclusion. Case reports, case series, and conference abstracts will be excluded. The data will be extracted through MEDLINE, Web of Science, CINAHL, Embase, Cochrane Library, and Google Scholar searches. No limits will be applied to language, and papers indexed from database inception to December 31, 2023, will be included. Two independent reviewers (YH and RK) will conduct study selection and data extraction. The data extracted will include specific details about the patient characteristics (eg, age, sex, and disease), the definitions and measuring methods for atypical presentations and diagnostic errors, clinical settings (eg, department and outpatient or inpatient), type of evidence source, and the association between atypical presentations and diagnostic errors relevant to the review question. The extracted data will be presented in tabular format with descriptive statistics, allowing us to identify the key components or types of atypical presentations and develop new criteria to identify atypical presentations for future studies of diagnostic errors. Developing the new criteria will follow guidance for a basic qualitative content analysis with an inductive approach.
RESULTS: As of January 2024, a literature search through multiple databases is ongoing. We will complete this study by December 2024.
CONCLUSIONS: This scoping review aims to provide rigorous evidence to develop new criteria to identify atypical presentations at high risk for diagnostic errors in internal medicine. Such criteria could facilitate the development of a comprehensive conceptual model to understand the associations between atypical presentations and diagnostic errors in internal medicine.
BACKGROUND: Open Science Framework; www.osf.io/27d5m.
UNASSIGNED: DERR1-10.2196/56933.

BACKGROUND: Central centrifugal cicatricial alopecia (CCCA) nomenclature describes a typical clinical presentation of cicatricial hair loss that begins on the vertex scalp with progressive, symmetric, and centrifugal evolution. However, atypical presentations have been noted clinically by the authors and reported in the literature.
OBJECTIVE: We sought to characterize the distribution of hair loss in published cases of adult patients with CCCA.
METHODS: A 3-step search process was used to evaluate research articles in Cumulative Index to Nursing & Allied Health, EMBASE, Google Scholar, MEDLINE, Scopus, and Web of Science databases. Studies with scalp photography or description of hair loss distribution were included. Three researchers evaluated eligible studies for clinical subtypes. Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Review was used to report results.
RESULTS: Ninety-nine studies consisting of 281 cases of CCCA were included. Hair loss distributions included variants of the classic presentation along with distinct subtypes such as patchy, occipital, parietal, frontal, temporal, and trichorrhexis.
CONCLUSIONS: Studies had significant homogeneity, as the classic distribution of CCCA was commonly reported. Additionally, clinically diagnosed cases may have concurrent diagnoses, and numerous studies did not report trichoscopy findings.
CONCLUSIONS: CCCA terminology may not always be reflective of clinical presentation. Understanding atypical presentations is essential to inform appropriate and targeted treatment.

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disorder, characterized by the accumulation of abnormal prion proteins in the brain. While CJD has some typical clinical features, its presentation can be quite heterogeneous, particularly in the early stages of the disease, posing challenges in diagnosis. Atypical manifestations of CJD can mimic various neurodegenerative disorders, including atypical parkinsonisms. In this case report, we present an 81-year-old man who exhibited an atypical clinical presentation of sporadic CJD, initially resembling progressive supranuclear palsy (PSP). The patient presented with symmetric parkinsonism, postural instability, and ocular motor dysfunction, accompanied by rapid clinical deterioration. Alongside the case report, we also provide a review of the literature on atypical presentations of CJD as PSP, highlighting the importance of recognizing these manifestations in clinical practice.

Kawasaki disease (KD) is an acute medium-vessel vasculitis, mainly affecting infants older than six months and children under five years. It predisposes to the development of coronary artery aneurysms and constitutes the leading cause of acquired heart disease in children. Its diagnosis is based on clinical criteria, namely, fever lasting for ≥ five days together with at least four of the five principal clinical features of the disease. Occasionally, children with KD present with fever, but they fulfill only some of the five principal criteria, and this is described as incomplete KD. Furthermore, \"atypical\" KD is a term that is usually used for cases that appear with rather unusual clinical manifestations, which complicate clinical judgment and may delay diagnosis and treatment. In this case series, we present four cases of KD with rather unusual clinical features: a five-year-old boy with lobar pneumonia, a six-year-old girl with orange-brown chromonychia appearing on the 10th day of the disease, a 2.5-month-old infant with prolonged fever and urinary tract infection, and an 18-month-old infant with refractory KD and high suspicion of multisystem inflammatory syndrome in children (MIS-C). A literature review on the unusual manifestations of atypical KD was performed to identify clinical findings that must alert the clinician to consider this clinical entity.

Celiac disease (CD) is a chronic autoimmune disorder characterized by an immune-mediated response to gluten, resulting in small intestinal mucosal damage. While gastrointestinal (GI) symptoms are commonly associated with CD, atypical presentations can pose diagnostic challenges, particularly when hematological abnormalities are the primary manifestation. We report a case of a 52-year-old female patient who presented with paraesthesia, numbness in her hands and feet, marked thinness, extreme thrombocytosis, severe anemia, and mild electrolyte imbalance. Physical examination was unremarkable, except for the notable thinness. GI symptoms were absent, and there was no family history of gastroenterological diseases. Diagnostic evaluations, including serological tests and duodenal biopsy, confirmed the diagnosis of CD with grade 4 Marsh 3C classification. This case emphasizes the significance of considering CD as a potential cause for atypical hematological manifestations, such as extreme thrombocytosis secondary to severe anemia. Prompt recognition and appropriate management, including adherence to a gluten-free diet, can lead to symptom improvement and resolution of hematological abnormalities. It is crucial for healthcare professionals to recognize and be familiar with these atypical presentations to promote early diagnosis and enhance patient outcomes.

Urinary tract infection (UTI) is common in older adults, mainly due to several age-related risk factors. Symptoms of UTI are atypical in the elderly population, like hypotension, tachycardia, urinary incontinence, poor appetite, drowsiness, frequent falls, and delirium. UTI manifests more commonly and specifically for this age group as delirium or confusion in the absence of a fever. This systematic review aims to highlight the relationship between UTI and delirium in the elderly population by understanding the pathologies individually and collectively. A systematic review is conducted by searching PubMed with regular keywords and major Medical Subject Heading (MeSH) keywords, Science Direct, and Google Scholar. The inclusion criteria consisted of studies based on male and female human populations above the age of 65 in the English language, available in full text published between 2017 and 2022. However, the exclusion criteria were animal studies, clinical trials, literature published before 2017, and papers published in any other language except English. A total of 106 articles were identified, and nine final studies were selected after a quality assessment, following which a valid relationship between delirium and UTI was identified in this systematic review.

A fistula that connects the bowel to other organs, such as the urinary bladder or small intestine, is a relatively frequent complication, often associated with inflammatory diseases such as diverticulitis, Crohn\'s disease, colorectal cancer, or lymphoma. Splenocolic fistula is an extremely rare condition described in the literature. It can occur in cases of splenic tumors, including splenic diffuse large B cell lymphoma. We report the case of an 82-year-old man who presented with melaena, worsening asthenia, hypotension, and abdominal pain in the left flank and the ipsilateral lumbar region. Ultrasound and computed tomography documented splenomegaly, thickening of the splenic flexure of the colon, and the presence of a fistulous passage between the colon and the splenic hilum. The diagnosis of lymphoma was made following laparotomy and caudal splenopancreatectomy. Due to the aggressive clinical behavior of this type of lymphoma, splenectomy is the main treatment in patients with splenomegaly, abdominal pain, and tumor expansion.

Introduction Despite tuberculosis being rampant in the Indian subcontinent, most cases of osteoarticular (OA) tuberculosis (TB) are missed until significant bony destruction has occurred. Initial presentation of extra-pulmonary TB mimics many other disease entities while many diseases mimic TB. This may lead to an incorrect diagnosis and sometimes creates a dilemma in reaching the correct diagnosis. The aim of this study was to evaluate a series of pediatric cases of osteoarticular TB, which posed a diagnostic challenge to us. Material and methods Retrospective analysis of case records of pediatric OA-TB patients who had presented to two tertiary level centers of urban India between February 2016 and December 2020 was done. There were a total of 69 patients.  Observations There were 37 males and 32 females. The age range was from two to 17 years. Forty-four patients showed evidence of disease within the spine (dorsal region followed by lumbar, followed by the cervical spine), 16 showed disease of the extremities, six had disease of the girdle bones, and three showed disease of the short bones of hands or foot. In our series, patients presented to us between 15 days to six months from the onset of symptoms. From our series, six cases with atypical clinical pictures have been selected for presentation purposes. In all six cases, the initial presentation was not that of OA-TB. However, with a high degree of suspicion, differential diagnosis of TB was kept in mind, and the diagnosis was confirmed microbiologically. Conclusion A high degree of suspicion is required to avoid missing the diagnosis of osteoarticular TB. Non-invasive advanced radiological investigations such as MRI and microbiological analysis of biopsy specimens aid in arriving at the correct diagnosis.

Neisseria meningitidis is an encapsulated Gram-negative diplococcus that asymptomatically colonises the upper respiratory tract in up to 25% of the population (mainly adolescents and young adults). Invasive meningococcal disease (IMD) caused by Neisseria meningitidis imposes a substantial public health burden,. The case fatality rate (CFR) of IMD remains high. IMD epidemiology varies markedly by region and over time, and there appears to be a shift in the epidemiology towards older adults. The objective of our review was to assess the published data on the epidemiology of IMD in older adults (those aged ≥ 55 years)in North America and Europe. Such information would assist decision-makers at national and international levels in developing future public health programmes for managing IMD.
A comprehensive literature review was undertaken on 11 August 2020 across three databases: EMBASE, Medline and BIOSIS. Papers were included if they met the following criteria: full paper written in the English language; included patients aged ≥ 56 years; were published between 1/1/2009 11/9/2020 and included patients with either suspected or confirmed IMD or infection with N. meningitidis in North America or Europe. Case studies/reports/series were eligible for inclusion if they included persons in the age range of interest. Animal studies and letters to editors were excluded. In addition, the websites of international and national organisations and societies were also checked for relevant information.
There were 5,364 citations identified in total, of which 76 publications were included in this review. We identified that older adults with IMD were mainly affected by serogroups W and Y, which are generally not the predominant strains in circulation in most countries. Older adults had the highest CFRs, probably linked to underlying comorbidities and more atypical presentations hindering appropriate timely management. In addition, there was some evidence of a shift in the incidence of IMD from younger to older adults.
The use of meningococcal vaccines that include coverage against serogroups W and Y in immunization programs for older adults needs to be evaluated to inform health authorities\' decisions of the relative benefits of vaccination and the utility of expanding national immunization programmes to this age group.