OpenMed/multicare-articles huggingface dataset:
Acquired reactive perforating collagenosis triggered by trauma with eosinophilia: a case report and literature review
Authors: Jie Liu, Peng Zhao, Xinzhong Zhang, Jie Gao, Haozhi Han, Junxia Qin
Journal: Front Med (Lausanne) (2024)
Keywords: arpc, case report, eosinophilia, skin rash, traumatic trigger
MeSH terms: Case Reports

Acquired reactive perforating collagenosis (ARPC) is a rare dermatological disorder condition defined by the perforation of altered collagen fibers through the epidermis. The presence of underlying conditions such as diabetes or renal disease is helpful in the ARPC diagnosis. Although skin rashes related to ARPC have been reported, the exact causative factors and mechanisms remain unclear. Here, we present a unique case of ARPC triggered by trauma in a 67-year-old male without concurrent systemic alterations. The diagnosis of ARPC with eosinophilia was made following comprehensive diagnostic testing, including clinical presentation, histological results, and blood tests, ruling out other possible diseases. Intriguingly, the histopathological examination revealed collagen penetration into the epidermis at different tissue sections. In addition, we reviewed existing literature on ARPC, which documented the causation. To help confirm the diagnosis, clinicians have to pay attention to traumatic triggers for ARPC and its rare manifestation with eosinophilia.
Disseminated Superficial Porokeratosis: A Case Report
Authors: Aysha Taha, Ghadah Khormi, Laila Alali, Afnan Maashi, Ahlam Alharbi
Journal: Cureus (2024)
Keywords: calcineurin inhibitors, keratotic lesions, mevalonate pathway, porokeratosis, topical corticosteroids
MeSH terms: Case Reports

Disseminated superficial porokeratosis is a rare dermatological disorder characterized by annular keratotic lesions, presenting diagnostic challenges due to its variable clinical manifestations. The pathogenesis involves genetic predisposition and environmental factors, with mutations in the mevalonate pathway implicated. Despite its benign nature, this condition significantly impacts patients' quality of life, necessitating accurate diagnosis and effective therapeutic strategies. We present the case of a 45-year-old female with a three-year history of annular plaques on sun-exposed areas progressing to involve multiple body regions. The characteristic histopathological finding of coronoid lamellae confirmed the diagnosis of disseminated superficial porokeratosis. Treatment involved a multimodal approach, including topical corticosteroids, calcineurin inhibitors, and systemic retinoids, resulting in satisfactory clinical outcomes. Long-term follow-up emphasized the need for ongoing disease monitoring and patient education regarding sun protection. The presented case underscores the importance of recognizing characteristic histopathological features for accurate diagnosis and highlights the significance of long-term follow-up, disease monitoring, and patient education to optimize outcomes and enhance overall quality of life.
Clinical Experience with Dimethyl Fumarate and Natalizumab in Pregnant Women with Multiple Sclerosis: A Four-Patient Case Series
Authors: Satoshi Saito, Ryotaro Ikeguchi, Kazuo Kitagawa, Yuko Shimizu
Journal: Case Rep Neurol Med (2024)
MeSH terms: Case Reports

Interferon β and glatiramer acetate are the disease-modifying drugs (DMDs) considered relatively safe for use in pregnant women with multiple sclerosis (MS); however, the safety profile of dimethyl fumarate (DMF) and natalizumab (NTZ) in this population remains inconclusive. Here, we present four cases of pregnant women with MS who were treated with DMF and NTZ (n = 2 patients, each) during their pregnancy and discuss our observations with the use of these drugs and the clinical courses of the patients. We retrospectively examined relapse of MS during pregnancy and after delivery; duration of exposure to DMDs; maternal, fetal, and neonatal adverse events; breastfeeding; and timing of resumption of DMDs. The two patients treated with DMF discontinued treatment 5 or 6 weeks after the discovery of pregnancy. DMF was resumed 1 week postpartum, and mixed breastfeeding was initiated. Brain magnetic resonance imaging in one patient 9 months after delivery revealed a new lesion; however, it was not classified as a clinical relapse. In two patients treated with NTZ, the dosing interval was extended to 6 weeks after the discovery of pregnancy. One patient discontinued NTZ at 30 weeks and the other at 25 weeks of gestation, as a slight restriction in fetal growth was observed owing to hyperemesis gravidarum. Both patients opted for formula feeding, and no relapse was observed within 1 year postpartum. Additionally, no abnormalities were observed in any of the patients during the perinatal period, and their development was normal. Investigation of drug safety in pregnant and parturient women primarily relies on registries, postmarketing surveillance, and case reports due to ethical limitations on conducting randomized controlled trials. Our findings demonstrated that DMF and NTZ were not contraindicated during pregnancy or the perinatal period in women with MS; nevertheless, vigilant monitoring is essential to ensure the safety of these drugs.
Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1
Authors: Lu Wang, Haiquan Xu, Jianbo Shu, Dandan Yan, Dong Li, Chunquan Cai
Journal: Front Pediatr (2024)
Keywords: gabrb1, case report, children, de novo variant, epilepsy
MeSH terms: Case Reports

Background:
The gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetics of DEE45 may be helpful in complementing genotype-phenotype studies.
Case presentation:
We collected peripheral blood samples from the affected children and parents and extracted genomic DNA. Whole exome sequencing (WES) was utilized to identify the underlying disease-causing variant. WES showed that the prior carried a heterozygous variant c.686C > T p.(Ala229Val) in exon 7 of the GABRB1 (NM_000812.4), and no variant was detected in either parental sample. The child has DEE45.
Conclusion:
The variant c.686C > T of the GABRB1 is a possible cause of DEE45. Gene variant analysis of the relevant family lines using WES provides effective genetic counseling for developing and regressing such patients in the clinic. However, further studies are needed to verify the pathogenic mechanism.
Primary subacute talus osteomyelitis caused by Pasteurella canis: literature review and case report
Authors: Sohaib Shah, Douglas Donnachie, Noman Niazi, Russell Conyers, Jo Dartnell, Marcos Katchburian, Oluwarantimi Ayodele
Journal: Access Microbiol (2024)
Keywords: pasteurella canis, osteomyelitis of talus
MeSH terms: Case Reports

In this review, we would like to demonstrate the case of a 6-year-old girl who presented with progressive ankle pain and eventual inability to weight bear. She was shown to have primary acute osteomyelitis of the talus caused by Pasteurella canis, a commensal organism usually found in the oropharynx of dogs, despite the absence of any history of a dog bite or other zoonotic risk factors. We characterise the symptoms, signs, radiographic appearances and result of both the medical and surgical management, including a review of the literature. This review aims to increase awareness of this rare pathology and help guide other clinicians in accurately diagnosing and managing the condition.
Case Report: Durable complete response of metastatic hepatocellular carcinoma with asymptomatic hyperamylasemia to combined immunotherapy of anti-cytotoxic T lymphocyte-associated antigen 4 plus anti-programmed cell death-1 antibodies
Authors: Han Gao, Rui-Zhi Chang, Xiao-Ping Chen, Wan-Guang Zhang, Bixiang Zhang, Xin Luo, Ze-Yang Ding
Journal: Front Immunol (2023)
Keywords: ctla-4 inhibitor, pd-1 inhibitor, asymptomatic hyperamylasemia, combined immunotherapy, hepatocellular carcinoma
MeSH terms: Carcinoma, Hepatocellular, Hyperamylasemia, Liver Neoplasms, Case Reports, Research Support, Non-U.S. Gov't, Abatacept, Aged, Antibodies, Monoclonal, Cell Death, Humans, Immunotherapy / methods, T-Lymphocytes, Antibodies, Monoclonal, Abatacept

Background:
Combined immunotherapy has shown promising results in the treatment of advanced HCC, whereas the priority population that would respond to the combined immunotherapy is still elusive. In addition, HCC with asymptomatic hyperamylasemia was not reported previously.
Case presentation:
An aged patient was diagnosed as HCC with BCLC stage C (bone metastasis). Notably, this patient showed asymptomatic hyperamylasemia. The patient was then enrolled in a trial evaluating combined immunotherapy of anti-PD-1 antibody sintilimab (IBI308) plus anti-CTLA-4 antibody (IBI310) in advanced HCC. After being treated with combined immunotherapy, this patient rapidly achieved complete response (CR) according to mRECIST criteria or immune partial response (iPR) according to iRECIST criteria and maintain the CR state for more than 12 months. Interestingly, serum levels of amylase and lipase in this patient were reduced after treatment.
Conclusion:
We reported, for the first time, a case of metastatic HCC with asymptomatic hyperamylasemia, and suggested that HCC patients with asymptomatic hyperamylasemia may benefit from combined immunotherapy of anti-CTLA-4 and PD-1 antibodies.
Renal pelvis metastasis following surgery for breast angiosarcoma: a case report and literature review
Authors: Fuyu Guo, Shiwei Sun, Xiangnan Niu, Yue Wang, Wei Yao, Peng Yue, Xiaoqian Deng, Jiwen Shang, Yangang Zhang
Journal: Front Oncol (2024)
Keywords: breast angiosarcoma, diagnosis, renal pelvis cancer, robot-assisted laparoscopic surgery, treatment, tumor metastasis
MeSH terms: Case Reports

Renal metastasis of breast angiosarcoma is rare. This article reports the medical records of a patient diagnosed with breast angiosarcoma who underwent radical mastectomy and was found to have multiple lung metastases 3 years after surgery and renal pelvic metastasis 4 years after surgery. The patient underwent robot-assisted laparoscopic radical nephroureterectomy and sleeve resection of the intramural segment of the ureter, and postoperative pathology and immunohistochemical staining confirmed the diagnosis of renal pelvic metastasis of breast angiosarcoma. The patient received anlotinib for lung metastases following surgery and was followed up for 4 months after surgery. Currently, the patient has symptoms of coughing and hemoptysis but no other discomfort. The diagnosis and treatment of this rare malignant tumor remain challenging.
Case Report: Resolution of remitting seronegative symmetrical synovitis with pitting edema during nivolumab therapy for gastric cancer
Authors: Hirofumi Ohmura, Moe Kondo, Masato Uenomachi, Hiroshi Ariyama, Mamoru Ito, Kenji Tsuchihashi, Masahiro Ayano, Hiroaki Niiro, Koichi Akashi, Eishi Baba
Journal: Front Oncol (2023)
Keywords: rs3pe, gastric cancer, irae, nivolumab, pathology
MeSH terms: Case Reports

The anti-programmed cell death-1 (PD-1) antibody nivolumab has been shown to significantly prolong the survival of patients with unresectable advanced or recurrent gastric cancer (AGC). However, immune-related adverse events (irAEs), which show different profiles from those of cytotoxic agents or conventional molecular-targeted drugs including tyrosine kinase inhibitors, have been reported. Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare autoimmune disorder with acute-onset, rheumatoid factor-negative, symmetric synovitis associated with limb edema observed in elderly persons. A case of RS3PE syndrome that developed after administration of nivolumab for advanced gastric cancer is reported. This is the first report of a case of RS3PE syndrome as an irAE caused by nivolumab in a patient with gastric cancer.
Applying the principles for digital development to improve maternal and child health in the Peri-urban areas of Karachi, Pakistan
Authors: Hareem Ahmer, Kinza Farooqui, Karim Jivani, Rehan Adamjee, Zahra Hoodbhoy
Journal: PLOS Digit Health (2024)

Low- middle-income countries, including Pakistan, are facing significant obstacles in their efforts to achieve the global targets for maternal, newborn, and child health (MNCH) defined by the Sustainable Development Goals. Barriers at the individual, health system, and contextual levels undermine healthcare access for pregnant women and children, disproportionately affecting those in low-resource settings. To address these challenges in the high-mortality, peri-urban areas of Karachi, VITAL Pakistan Trust and Aga Khan University launched a digital health intervention (DHI) to stimulate demand for health services and streamline care management for health workers at the primary care level. In this case study, we present a narrative review of the design, development, and deployment of the DHI, an Android-based application, in accordance with the Principles for Digital Development. We draw on the initial experience with implementation to reflect on how each of the nine Principles was considered during different phases of the project lifecycle, focusing on the lessons learned and challenges encountered during this process. By engaging with end-users and understanding the community, we were able to map existing relationships and workflows onto a digital platform to address major challenges hindering service delivery. Leveraging insights from field observations and user feedback, we collaborated with experts in healthcare and technology to develop the DHI, which has now scaled to 44 peri-urban settlements in Karachi. Our experience underscores the value of substantiated frameworks like the Principles. However, on-ground challenges reveal important caveats requiring further assessment. These include building community trust in new digital systems and ensuring the ethical use of health data, particularly in low digital and data literacy contexts. Based on this understanding, we share recommendations for conditions central to the effective integration and uptake of technology in healthcare, specifically within the context of digital health for MNCH.
Injected Drug Addiction-Associated Swollen Hands: A Case Report of Methylamphetamine-Related Unilateral Drug Addiction-Related Puffy Hand Syndrome
Authors: Philip R Cohen
Journal: Cureus (2024)
Keywords: addiction, bilateral, drug, edema, hand, methylamphetamine, puffy, swelling, syndrome, unilateral
MeSH terms: Case Reports

Puffy hand syndrome occurs in addicts who have injected drugs either intravenously, intradermally, or subcutaneously. It usually presents as bilateral reversible pitting edema of the hands; less frequently, it occurs unilaterally. The forearms and arms may also be affected. The onset of puffy hand syndrome can occur while the patient is still injecting drugs; however, it can initially appear several years after injection of the drug has been discontinued. Infection with hepatitis C is a common comorbidity. A 47-year-old man is described who had a 20-year history of injecting methylamphetamine only into his non-dominant left arm, forearm, and hand and experienced his second episode of unilateral puffy hand syndrome four years after discontinuing injecting the drug and three years after his initial episode; he also had hepatitis C infection. He presented with erythema and pitting edema of his left hand and forearm. Cellulitis was initially suspected, and he was admitted to the hospital for intravenous antibiotics; all cultures were negative for pathogens. The erythema and swelling resolved after five days of therapy. Puffy hand syndrome has been associated with various drugs; it has also been observed to occur in women during pregnancy and occasionally associated with acrocyanosis. The diagnosis is often not originally entertained by the clinician; the condition is often initially treated empirically as an infection. Serologic evaluation is typically negative for rheumatologic diseases, such as systemic lupus erythematosus and scleroderma, and cultures of the skin and blood are usually negative for pathogens. Radiologic assessment (such as roentgenograms, ultrasound to rule out venous thrombosis, computed tomography, magnetic resonance imaging, venogram, and lymphangiogram) may be performed, to exclude other conditions. Skin biopsy of the affected edematous hand occasionally demonstrates granulomatous inflammation and foreign bodies (suggestive of starch or injection additives) in the dermis. The edema for some of the patients with puffy hand syndrome was successfully treated with daily bandaging with compression stockings. The pathogenesis of puffy hand syndrome is considered to be multifactorial: damage to the veins, injury to the lymphatic system, and direct toxicity of the injectable drugs to the vascular structures.
Delayed Presentation of Pityriasis Rubra Pilaris in a Patient on Treatment With Ponatinib
Authors: Marissa M Yaldo, Hailey Olds, Meredith Hengy, Meena Moossavi
Journal: Cureus (2024)
Keywords: adverse drug reactions, chronic myeloid leukemia, delayed presentation, pityriasis rubra pilaris, ponatinib
MeSH terms: Case Reports

Pityriasis rubra pilaris (PRP) is a rare dermatologic condition whose etiology is largely unknown. However, some medications, including ponatinib, have been implicated. Our case features an 80-year-old patient who developed PRP after two-and-a-half years of ponatinib use. We present this case due to the rare presentation of ponatinib-induced PRP as well as its significantly delayed presentation.
Isatuximab for Delayed Red Cell Engraftment after Allogeneic Hematopoietic Cell Transplantation
Authors: Mary Nauffal, Stephen Eng, Andrew Lin, Alexander Chan, Kathryn Mazzerella, Sergio Giralt, Miguel-Angel Perales, Boglarka Gyurkocza
Journal: Case Rep Hematol (2024)
MeSH terms: Case Reports

Isatuximab is an IgG1κ-derived monoclonal antibody against CD38 approved for the treatment of adult patients with multiple myeloma. Here we describe the successful treatment of a therapy-refractory pure red cell aplasia case following ABO-mismatched allogeneic stem cell transplantation with isatuximab. Our patient was a 75-year-old female with acute myeloid leukemia who received an HLA-B antigen mismatched, unrelated peripheral blood stem cell transplant with a major ABO incompatibility (blood group A+ in the donor and blood group O+ in the recipient). The patient developed persistent red cell aplasia and anti-A antibodies for more than 500 days from transplant. She received therapy with rituximab, bortezomib, prednisone, and darbepoetin alfa with partial to no response. After repeated insurance denials for daratumumab, isatuximab was obtained from the manufacturer through their CareASSIST program. Following the completion of 2 cycles of isatuximab (8 doses), significant and sustained red cell recovery was observed.
Case report: Psychosis with catatonia in an adult man: a presentation of neurosarcoidosis
Authors: Griet Van Hoye, Barbara Willekens, Stephanie Vanden Bossche, Manuel Morrens, Filip Van Den Eede
Journal: Front Psychiatry (2024)
Keywords: case report, catatonia, diagnosis, neurosarcoidosis, psychosis
MeSH terms: Case Reports

Introduction:
Sarcoidosis is a multisystem non-caseous granulomatous disease of unknown origin with predominant lung involvement and a variable clinical course. Although rare, neuropsychiatric manifestations such as confusion, problems in orientation, memory dysfunction, delusions, hallucinations and catatonia can be presenting features of sarcoidosis with nervous system involvement, also known as neurosarcoidosis.
Case description:
We present a 39-year-old man with acute-onset vertigo, balance problems and confusion quickly developing delusions, hallucinations, catatonic symptoms and suicidal behaviour. Symptoms appeared to be a manifestation of neurosarcoidosis.
Diagnostic assessment:
The differential diagnosis of psychosis is broad and should include pertinent auto-immune disorders, paraneoplastic, oncologic, metabolic, and neurodegenerative disorders. Basic systemic screening should include blood and urinary tests, a chest X-ray, brain CT scan and ECG. If neurosarcoidosis is suspected, an MRI of the brain with contrast and lumbar puncture are most appropriate. Multidisciplinary collaboration is essential to arrive at a correct diagnosis and effective management of the patient.
Discussion:
Despite the large number of sarcoidosis and psychosis studies, the etiology and pathogenesis of both illnesses remain incompletely understood. A common inflammatory etiopathological pathway has been postulated.
Conclusions:
Clinicians should consider organic causes when confronted with a middle-aged patient experiencing a first psychotic episode with an atypical onset, catatonic features, or dysfunction in orientation and/or memory, a complete lack of a positive familial psychiatric history and/or an atypical response to (psycho)pharmacological treatment.
Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review
Authors: Katarzyna Chwiejczak, Daniel Byles, Paul Gerry, Hirut Von Lany, Anastasia Tasiopoulou, Andrew Hattersley
Journal: GMS Ophthalmol Cases (2023)
Keywords: oct, oct-angiography, diabetes mellitus, fundus autofluorescence, maternally inherited diabetes and deafness, mitochondrial disease, multimodal imaging, noninsulin-dependent diabetes mellitus with deafness, pigmentary retinopathy, retinal ganglion cell layer
MeSH terms: Case Reports

Purpose:
To present results of contemporary multimodal ophthalmic imaging in a case of maternally inherited diabetes and deafness (MIDD) and a literature review of MIDD.
Methods:
A case of a 47-year-old female with diabetes mellitus, severe insulin resistance, familial lipodystrohy, deafness and increasing problems with vision is reported. A full ophthalmic examination was done, including best corrected visual acuity (BCVA, LogMAR), funduscopy, and imaging studies: optical coherence tomography (OCT), OCT angiography (OCT-A), fundus autofloresence (FAF), visual fields (HVF) 10-2 , electrophysiology (EP) and genetic testing were performed. Literature available on the topic was reviewed.
Results:
BCVA was 0.06 LogMAR in the right eye and 0.1 LogMAR in the left. Funduscopy revealed atrophy (AT) and pigmentary changes but no diabetic retinopathy. HVF confirmed corresponding defects. The imaging and diagnostic tests showed the following abnormalities: FAF: hypoautofluoresence in areas of AT and mottled appearance in the macular and peripapillary area; OCT: attenuation of outer retinal layers and retinal pigment epithelium (RPE) in the AT; OCT-A: thinning of the deep capillary plexus and choriocapillaris; EP: abnormalities on full field electroretinogram (ERG), 30 Hz flicker and single cone flash response; multifocal ERG: reduced responses; genetic testing: A-to-G transition mutation at position 3243 of the mitochondrial genome, typical for MIDD. After one year OCT ganglion cell analysis showed loss of thickness.
Conclusions:
Genetic testing should be considered in diabetic patients with pigmentary retinopathy. Imaging studies and diagnostic testing showed structural and functional retinal changes, confined to the macula and progressive in nature.