Course Of Disease Research Articles

Bridging the Gap: Local Field Potentials Offer a Peek Into the Brain of a Person With Parkinson Disease.

Clinically available deep brain recordings in patients with Parkinson disease (PD) offer insights into disease mechanisms and create a pathway for personalized treatment strategies. This case illustrates the transformative potential of recordings of neuronal firing in the form of local field potentials (LFPs) by detailing a patient's clinical trajectory for 6 months after deep brain stimulation (DBS) surgery to treat their PD symptoms. LFPs, obtained easily in clinic with a tablet interface to measure and track brain rhythms across the disease course, enriched the patient's clinical picture. Specifically, strong beta peaks were captured at initial programming, and, as the beta peaks diminished over the course of optimizing settings, symptoms improved. These signals may also reveal insights into the neural dynamics of PD such as hypersynchrony in basal ganglia circuitry. Furthermore, the ability to record chronically may unlock new understanding of neuronal dysfunction in PD, possibly enabling future adaptive DBS. In conclusion, identification, tracking, and modulation of LFPs correlated with subjective and objective clinical improvement in the case presented. The use of neurophysiologic signals in the future may lead to therapeutic innovations for our patients with PD.

Pearls & Oy-sters: Thyroid-Associated Ophthalmopathy and Transient Neuromuscular Junction Disorder Due to Graves Disease.

The concomitant presentation of thyroid-associated ophthalmopathy (TAO) and ocular myasthenia gravis is well documented. In the course of Graves disease (GD), symptomatic transient neuromuscular junction disorder may occur due to the effect of thyroid hormones at the neuromuscular synapse. Diagnostic clues are the clinical and electrophysiologic remission synchronous with restoration of euthyroidism. Furthermore, the occurrence of thymic hyperplasia in GD poses further diagnostic and therapeutic considerations. These points are discussed in the case report of a 43-year-old male patient suffering from TAO and transient neuromuscular junction disorder due to GD.

Adult Neoneurogenesis and Oligodendrogenesis in Multiple Sclerosis: A Systematic Review of Human and Animal Studies.

Introduction: The subventricular zone promotes remyelination through activation differentiation of oligodendroglial precursor cells (OPCs) and neural stem cells (NSCs) into mature oligodendrocytes and thus in the adult brain. In multiple sclerosis (MS) this regenerative capability is halted resulting in neurodegeneration. We aimed to systematically search and synthesize evidence on mechanisms and phenomena associated with subventricular zone (SVZ) dysfunction in MS. Materials and Methods: Our systematic review was reported according to the PRISMA-ScR statement. MEDLINE, SCOPUS, ProQuest, and Google Scholar were searched using the terms "subventricular zone" and "multiple sclerosis," including English-written invivo and postmortem studies. Results: Twenty studies were included. Thirteen studies on models of experimental autoimmune encephalomyelitis (EAE) reported among others strong stathmin immunoreactivity in the SVZ of EAE models, the role of MOG immunization in neurogenesis impairment, the effect of parenchymal OPCs and NSCs in myelin repair, and the importance of ependymal cells (E1/E2) and ciliated B1 cells in SVZ stem cell signaling. CXCR4 signaling and transcriptional profiles of SVZ microglia, Gli1 pathway, and galactin-3 were also explored. Studies in humans demonstrated microstructural SVZ damage in progressive MS and the persistence of black holes near the SVZ, whereas postmortem confirmed the generation of polysialic acid-neural cell adhesion molecule and NG2-positive progenitors through SVZ activation, SVZ stathmin immunoreactivity, Shh pathway, and Gal-3 upregulation. Discussion: Oligodendrogenesis defects translate to reduced remyelination, a hallmark of MS that determines its end-phenotype and disease course. Conclusion: The role of inflammation and subsequent SVZ microenvironment disruption is evident in MS pathology.

The efficacy of multi-disciplinary lifestyle modifications in Taiwanese nonalcoholic steatohepatitis patients.

Lifestyle modification is the standard of care for nonalcoholic fatty liver disease (NAFLD) patients. We aimed to investigate the efficacy of a short-term lifestyle modification program in the disease course of Taiwanese nonalcoholic steatohepatitis (NASH) patients with paired biopsies. All patients received a 6-month, strict multidisciplinary program of lifestyle modifications led by physicians, dieticians, and nursing staff. The histopathological and clinical features were assessed. The endpoints were normalization of transaminase levels, metabolic parameters, a decrease in the NAFLD activity score (NAS) ≥1, and a decrease in the fibrosis stage ≥1. We also aimed to elucidate the predictors associated with disease progression. A total of 37 patients with biopsy-proven NASH were enrolled. The normalization of transaminase levels increased from 0% to 13.5%. There were also significantly increased proportions of patients with normal total cholesterol, triglyceride, and hemoglobin A1c levels. Fifteen (40.5%) patients had an increased NAS ≥1, whereas 10 (27.0%) patients had NAS regression. Twelve (32.4%) patients had increased fibrosis ≥1 stage. Only 2 (5.4%) patients experienced fibrosis regression. A high fasting plasma glucose (FPG) level was associated with NAS progression. Older age and higher transaminase and FPG levels were factors associated with fibrosis progression. Seven (18.9%) patients achieved a body weight reduction >3%, and 4 (57.1%) of them experienced NAS regression. No significant effect of weight reduction on the progression of fibrosis was observed. The short-term lifestyle modification program significantly decreased liver enzymes and metabolic parameters in NASH patients. A more precise or intensive program may be needed for fibrosis improvement.

Characteristics of the course of inflammatory bowel diseases among the residents of the Kabardino-Balkarian Republic

Characteristics of the course of inflammatory bowel diseases among the residents of the Kabardino-Balkarian Republic

Natural Killer Cells Do Not Attenuate a Mouse-Adapted SARS-CoV-2-Induced Disease in Rag2−/− Mice

This study investigates the roles of T, B, and Natural Killer (NK) cells in the pathogenesis of severe COVID-19, utilizing mouse-adapted SARS-CoV-2-MA30 (MA30). To evaluate this MA30 mouse model, we characterized MA30-infected C57BL/6 mice (B6) and compared them with SARS-CoV-2-WA1 (an original SARS-CoV-2 strain) infected K18-human ACE2 (K18-hACE2) mice. We found that the infected B6 mice developed severe peribronchial inflammation and rapid severe pulmonary edema, but less lung interstitial inflammation than the infected K18-hACE2 mice. These pathological findings recapitulate some pathological changes seen in severe COVID-19 patients. Using this MA30-infected mouse model, we further demonstrate that T and/or B cells are essential in mounting an effective immune response against SARS-CoV-2. This was evident as Rag2−/− showed heightened vulnerability to infection and inhibited viral clearance. Conversely, the depletion of NK cells did not significantly alter the disease course in Rag2−/− mice, underscoring the minimal role of NK cells in the acute phase of MA30-induced disease. Together, our results indicate that T and/or B cells, but not NK cells, mitigate MA30-induced disease in mice and the infected mouse model can be used for dissecting the pathogenesis and immunology of severe COVID-19.

Insights into the Roles of Natural Killer Cells in Osteoarthritis.

Osteoarthritis (OA) is now widely acknowledged as a low-grade inflammatory condition, in which the intrinsic immune system plays a significant role in its pathogenesis. While the involvement of macrophages and T cells in the development of OA has been extensively reviewed, recent research has provided mounting evidence supporting the crucial contribution of NK cells in both the initiation and advancement of OA. Accumulated evidence has emerged in recent years indicating that NK cells play a critical role in OA development and progression. This review will outline the ongoing understanding of the utility of NK cells in the etiology of OA, focusing on how NK cells interact with chondrocytes, synoviocytes, osteoclasts, and other immune cells to influence the course of OA disease.

Vascular Changes in Eyes with Post-Fever Retinitis Pre and Post Treatment Demonstrated Using Optical Coherence Tomography Angiography

ABSTRACT Purpose To document vascular changes in eyes with post-fever retinitis (PFR) pre and post treatment demonstrated using optical coherence tomography angiography (OCTA). Methods This is a retrospective observational case series wherein patients with PFR were retrospectively evaluated for changes in the retinal vasculature during the course of disease using OCTA. Results At presentation, OCTA revealed flow void areas in superficial and deep capillary plexus (SCP and DCP) corresponding to the areas of retinitis. Post treatment, OCTA showed a significant decrease in the flow void areas with the appearance of new capillary network in both SCP and DCP. The optical coherence tomography also demonstrated normalization of retinal architecture over time. It is speculated that the good visual outcome in PFR could be attributed to the normalization of retinal architecture and remodelling in retinal vasculature. Conclusion OCTA being non-invasive can be used to understand and quantify the extent of vascular remodelling in PFR.

Advanced therapies in Parkinson's disease: an individualized approach to their indication.

Device aided therapies (DAT) comprising the intrajejunal administration of levodopa/carbidopa intestinal gel (LCIG) and levodopa/carbidopa/entacapone intestinal gel (LECIG), the continuous subcutaneous application of foslevodopa/foscarbidopa or apomorphine infusion (CSAI) and deep brain stimulation (DBS) are used to treat Parkinson's disease with insufficient symptom alleviation under intensified pharmacotherapy. These DAT significantly differ in their efficacy profiles, indication, invasiveness, contraindications, and potential side effects. Usually, the evaluation of all these procedures is conducted simultaneously at the same point in time. However, as disease progression and symptom burden is extremely heterogeneous, clinical experience shows that patients reach the individual milestones for a certain therapy at different points in their disease course. Therefore, advocating for an individualized therapy evaluation for each DAT, requiring an ongoing evaluation. This necessitates that, during each consultation, the current symptomatology should be analyzed, and the potential suitability for a DAT be assessed. This work represents a critical interdisciplinary appraisal of these therapies in terms of their individual profiles and compares these DAT regarding contraindications, periprocedural considerations as well as their efficacy regarding motor- and non-motor deficits, supporting a personalized approach.

Changes in peripapillary retinal nerve fibre layer and ocular parameters in acute anterior uveitis

ABSTRACT Clinical relevance Acute anterior uveitis (AAU) can lead to the thickening of the peripapillary retinal nerve fibre layer (pRNFL) and induce refractive changes during its active phase. Background AAU is a common form of uveitis characterised by inflammation in the anterior chamber. A notable prevalence of optical coherence tomography – defined pRNFL thickening was observed among patients with AAU. The alterations in pRNFL thickness and their associations with other relevant ocular parameters in patients with AAU were investigated. Methods A retrospective, consecutive case series was conducted at a specialised uveitis referral clinic in Taiwan. This study gathered data on various demographic characteristics and various ocular parameters, namely anterior chamber cell grading, refractive error, best-corrected visual acuity, intraocular pressure, and optical coherence tomography measurements. A comparative analysis of baseline and subsequent follow-up data was conducted. Additionally, this study examined the correlations between alterations in pRNFL thickness and various ocular parameters. Twenty-one patients with AAU (21 affected eyes/21 unaffected eyes) were examined. Results Initial measurements revealed pRNFL thickening in 20 patients. Treatment led to significant improvements in best-corrected visual acuity, intraocular pressure recovery, and pRNFL thickening (p < 0.01). The correlation between changes in pRNFL thickness and best-corrected visual acuity was weak (r = 0.20, p = 0.41). By contrast, a significant negative correlation was identified between changes in pRNFL thickness and refractive error alterations (r =  −0.71, p = 0.01). Conclusion This study demonstrated that AAU is associated with pRNFL thickening, which in turn is inversely correlated with changes in refractive error alterations throughout the disease course. Monitoring changes in pRNFL thickness can be effective in assessing ocular inflammation status.

Clinical Value of Different Test Methods in Diagnosing Mycoplasma pneumoniae Infection in Children.

This research aimed to investigate the diagnostic value of passive particle agglutination test, Mycoplasma pneumoniae (MP) culture, cold agglutination test (CAT), enzyme-linked immunosorbent assay (ELISA), and polymerase chain reaction-capillary electrophoresis fragment analysis (PCR-CEFA) for MP infection. Children with respiratory tract infections suspected to be MP infection were subjected to passive particle agglutination test, MP culture, CAT, ELISA, and PCR-CEFA. A total of 146 children (81 males, 65 females, mean age: 5.74 ± 3.32 years, and mean course of disease: 9.07 ± 5.18 days) met the inclusion criteria. The positivity rate of MP detection by MP culture was 69.18% (101/146). Using the MP culture method as the standard, higher sensitivity and positive predictive value were found in the PCR-CEFA compared with the other 3 methods. Appropriate methods are selected following the advantages and disadvantages of pathogen detection, and pediatric MP infection is analyzed by integrating various test results.

Treat hard and early in SSc-ILD: milde ILD ist immer noch ILD

&lt;b&gt;Background:&lt;/b&gt; Interstitial lung disease (ILD) is the leading cause of death in systemic sclerosis (SSc). According to expert statements, not all SSc-ILD patients require pharmacological therapy. &lt;b&gt;Objectives:&lt;/b&gt; To describe disease characteristics and disease course in untreated SSc-ILD patients in two well characterised SSc-ILD cohorts. &lt;b&gt;Methods:&lt;/b&gt; Patients were classified as treated if they had received a potential ILD-modifying drug. ILD progression in untreated patients was defined as (1) decline in forced vital capacity (FVC) from baseline of ≥10% or (2) decline in FVC of 5%–9% associated with a decline in diffusing capacity for carbon monoxide (DLCO)≥15% over 12 ± 3 months or (3) start of any ILD-modifying treatment or (4) increase in the ILD extent during follow-up. Multivariable logistic regression was performed to identify factors associated with non-prescription of ILD-modifying treatment at baseline. Prognostic factors for progression in untreated patients were tested by multivariate Cox regression. &lt;b&gt;Results:&lt;/b&gt; Of 386 SSc-ILD included patients, 287 (74%) were untreated at baseline. Anticentromere antibodies (OR: 6.75 (2.16–21.14), p=0.001), limited extent of ILD (OR: 2.39 (1.19–4.82), p=0.015), longer disease duration (OR: 1.04 (1.00–1.08), p=0.038) and a higher DLCO (OR: 1.02 (1.01–1.04), p=0.005) were independently associated with no ILD-modifying treatment at baseline. Among 234 untreated patients, the 3 year cumulative incidence of progression was 39.9% (32.9–46.2). Diffuse cutaneous SSc and extensive lung fibrosis independently predicted ILD progression in untreated patients. &lt;b&gt;Conclusion:&lt;/b&gt; As about 40% of untreated patients show ILD progression after 3 years and effective and safe therapies for SSc-ILD are available, our results support a change in clinical practice in selecting patients for treatment.

Relapse in ocular tuberculosis: relapse rate, risk factors and clinical management in a non-endemic country

AimsTo assess the risk of uveitis relapse in ocular tuberculosis (OTB) following clinical inactivity, to analyse clinical factors associated with relapses and to describe the management strategies for relapses.MethodsA retrospective...

Deregulation in adult IgA vasculitis skin as the basis for the discovery of novel serum biomarkers

IntroductionImmunoglobulin A vasculitis (IgAV) in adults has a variable disease course, with patients often developing gastrointestinal and renal involvement and thus contributing to higher mortality. Due to understudied molecular mechanisms in IgAV currently used biomarkers for IgAV visceral involvement are largely lacking. Our aim was to search for potential serum biomarkers based on the skin transcriptomic signature.MethodsRNA sequencing analysis was conducted on skin biopsies collected from 6 treatment-naïve patients (3 skin only and 3 renal involvement) and 3 healthy controls (HC) to get insight into deregulated processes at the transcriptomic level. 15 analytes were selected and measured based on the transcriptome analysis (adiponectin, lipopolysaccharide binding protein (LBP), matrix metalloproteinase-1 (MMP1), C-C motif chemokine ligand (CCL) 19, kallikrein-5, CCL3, leptin, C-X-C motif chemokine ligand (CXCL) 5, osteopontin, interleukin (IL)-15, CXCL10, angiopoietin-like 4 (ANGPTL4), SERPIN A12/vaspin, IL-18 and fatty acid-binding protein 4 (FABP4)) in sera of 59 IgAV and 22 HC. Machine learning was used to assess the ability of the analytes to predict IgAV and its organ involvement.ResultsBased on the gene expression levels in the skin, we were able to differentiate between IgAV patients and HC using principal component analysis (PCA) and a sample-to-sample distance matrix. Differential expression analysis revealed 49 differentially expressed genes (DEGs) in all IgAV patient’s vs. HC. Patients with renal involvement had more DEGs than patients with skin involvement only (507 vs. 46 DEGs) as compared to HC, suggesting different skin signatures. Major dysregulated processes in patients with renal involvement were lipid metabolism, acute inflammatory response, and extracellular matrix (ECM)-related processes. 11 of 15 analytes selected based on affected processes in IgAV skin (osteopontin, LBP, ANGPTL4, IL-15, FABP4, CCL19, kallikrein-5, CCL3, leptin, IL-18 and MMP1) were significantly higher (p-adj < 0.05) in IgAV serum as compared to HC. Prediction models utilizing measured analytes showed high potential for predicting adult IgAV.ConclusionSkin transcriptomic data revealed deregulations in lipid metabolism and acute inflammatory response, reflected also in serum analyte measurements. LBP, among others, could serve as a potential biomarker of renal complications, while adiponectin and CXCL10 could indicate gastrointestinal involvement.

Longitudinal analysis of PD-L1 expression in patients with relapsed NSCLC

BackgroundThe use and approval of immune checkpoint inhibitors for the treatment of non-small cell lung cancer (NSCLC) depends on PD-L1 expression in the tumor tissue. Nevertheless, PD-L1 often fails to...

Comprehensive Disease Management Strategy for Cercospora Leaf Spot in Mungbean: Assessment of Botanicals, Fungicides, and Bio-agents In vivo

Aim: Worldwide mungbean farming is seriously threatened by the fungal disease Cercospora canescens, which causes Cercospora leaf spot and severe yield losses. This study evaluated the effectiveness of fungicides, botanicals, and bioagents in vivo with the goal of developing an efficient management approach for Cercospora leaf spot.&#x0D; Study Design: Randomized block design with ten treatments and three replications.&#x0D; Place and Duration of Study: Department of Plant Pathology, ANDUA&amp;T Kumarganj, Ayodhya (U.P.) India located at latitude 26.47 0N, longitude 82.12 0E and altitude 113m above the sea level during kharif season, 2019.&#x0D; Methodology: The antifungal capabilities of botanical extracts were studied, the pathogen-growth-inhibiting capacity of fungicides was tested, and the potential for bio-agents to suppress the course of disease was analyzed. The effectiveness of plant extracts, including Neem leaf extract, Onion, Garlic clove extract, Tulsi, and Ginger was assessed at a concentration of 10%, against Cercospora canescens.&#x0D; Results: Ten per cent concentration was found most effective in vitro was further tested in vivo at 30 days and 45 days after sowing.  Neem leaf extract, Onion, Garlic clove extract, Tulsi, and Ginger @ 10% against Cercospora canescens&#x0D; Conclusion: It is very clear from the present studies that the plant extracts which were better in inhibiting the radial growth In vitro also showed reduction in disease incidence and per cent disease control was also higher In vivo condition.

Rationale and Design of the Innsbruck Diabetic Kidney Disease Cohort (IDKDC) – A Prospective Study investigating Etiology and Progression of Early-Stage Chronic Kidney Disease in Type 2 Diabetes

Abstract Background The development of chronic kidney disease (CKD) in about 20-40 % of patients with type 2 diabetes (T2D) aggravates cardiovascular morbidity and mortality. Pathophysiology is of increasing relevance for individual management and prognosis, though it is largely unknown among T2D patients with CKD as histologic work-up is not routinely performed upon typical clinical presentation. However, as clinical parameters do not appropriately reflect underlying kidney pathology, reluctance regarding timely histologic assessment in T2D patients with CKD should be critically questioned. Aim As the etiology of CKD in T2D is heterogeneous, we aim to assess the prevalence and clinical disease course of typical diabetic vs. atypical/non-specific vs. non–diabetic vs. coexisting kidney pathologies among T2D patients with mild-to-moderate kidney impairment (KDIGO stage G3a/A1-3 or G2/A2-3; i.e. eGFR 59-45 ml/min irrespective of albuminuria or eGFR 89-60 ml/min and albuminuria &amp;gt;30 mg/g creatinine). Methods The Innsbruck Diabetic Kidney Disease Cohort (IDKDC) study aims to enroll at least 65 T2D patients with mild-to-moderate kidney impairment to undergo a diagnostic kidney biopsy. 6 monthly clinical follow-ups for up to 5 years will provide clinical and laboratory data to assess cardio-renal outcomes. Blood, urine and kidney tissue specimen will be biobanked to identify diagnostic and prognostic biomarkers. Conclusions While current risk assessment is primarily based on clinical parameters, our study will provide the scientific background for a potential change of the diagnostic standard towards routine kidney biopsy and clarify its role for individual risk prediction regarding cardio-renal outcome in T2D patients with mild-to-moderate kidney impairment.

VEXAS syndrome: Focus on dermatological manifestations and their histopathological correlate

AbstractBackgroundVEXAS ‘Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome’ is a rare autoinflammatory syndrome, first described in October 2020 by Beck et al. It is caused by somatic mutations in the UBA1 gene, coding for the E1 enzyme, responsible for ubiquitination. It manifests in adulthood, mainly in men, with constitutional symptoms, haematological abnormalities and often skin lesions with neutrophilic dermatoses most frequently reported. Since skin lesions are a frequent and early manifestation, recognising these may prove very useful for diagnosis.ObjectivesTo focus on the dermatological manifestations of VEXAS and their histopathological correlate.MethodsWe retrospectively collected data and revised skin biopsies of VEXAS patients diagnosed in our tertiary care centre, and compared those with the literature.ResultsWe identified nine men between 62 and 84 years old. The most frequently encountered UBA1 mutation was p.Met41Thr. Skin manifestations occurred in all patients; mostly as erythematous to purpuric papules/plaques, often with annular pattern. Histopathological, early VEXAS lesions showed a gradient in infiltrate with neutrophils being concentrated in the superficial interstitium and lymphocytes situated deeper around the blood vessels. Later in the disease course, the pattern became more variable and less specific with more nuclear debris, histiocytes, neutrophils and ulceration. Haematological and constitutional manifestations were present in all patients, followed by musculoskeletal (88.8%), eye (77.7%) and cardiovascular manifestations (66.6%). Polychondritis was present in 6/9 (66.6%) patients, as were respiratory symptoms, though only 33.3% had proven lung disease. The mortality rate was 22% 10 months after diagnosis.ConclusionsThis is the first cohort which describes in detail VEXAS skin manifestations with revision of all available skin biopsies, which led to the conclusion that early histopathological abnormalities in VEXAS syndrome may be easy to recognise, while the histopathological image becomes less specific over time and mimics other diseases as VEXAS progresses.

Evaluation of whole blood profile as a tool in COVID-19 diagnosis and screening. A cross-sectional study

Backgroung: the COVID-19 epidemic began in December 2019, and the shortage of diagnostic resources has affected the reported data on the number of cases, resulting in variations in reported cases between countries. This situation underscores the necessity for a deeper understanding of SARS-CoV-2 pathophysiology, including blood profiles and potential predictors. Methods: hematological variables were studied in 200 patients diagnosed with COVID-19, before the vaccination period started. We analyzed hemogram parameters: erythrocytes, hemoglobin, mean corpuscular hemoglobin (MCH), mean corpuscular volume (MCV) mean corpuscular hemoglobin concentration (MCHC), hematocrit, red cell distribution width (RDW), platelets, mean platelet volume (MPV), leukocytes, neutrophils, lymphocytes, neutrophils/lymphocytes ratio and Platelet-to-Lymphocyte Ratio (PLR), up to 9 days after positive result for COVID-19. Results: the positive COVID-19 group presented a higher mean age, as well as a higher frequency of male individuals. Erythrocyte, hemoglobin, hematocrit and MCH values were significantly lower, while RDW and PLR showed higher values in the positive group. Leukocytes, neutrophil and the neutrophil/lymphocyte ratio presented higher values in the positive COVID-19 group. Conclusion: data showed that the hemogram, a low-cost, minimally invasive exam, supports diagnosis and screening of COVID-19, allowing better evaluation of the disease course and assisting medical decisions facing lack of resources in a pandemic situation.

Clinical and pathological features of pilomatrixoma in children: a retrospective study.

Introduction Pilomatrixoma is a benign skin neoplasm that is common in children and is often misdiagnosed. This study aimed to summarize the clinical and pathological features of pilomatrixoma in children. Methods Data on demographic information, clinical and pathological features, diagnosis, and treatment of 171 patients with pilomatrixoma from Shenzhen Baoan Women's and Children's Hospital were collected and analyzed retrospectively. Results The mean age of the patients was 5.7 (standard deviation (SD) = 3.9) year-old, and there were two age peaks (≤1 year-old, 5-11 years old) and two age valleys (2-4 years old, ≥ 12 years old). The mean disease course was 9.3 (SD = 14.1) months, 69.0%, 86.5%, and 95.3% of the patients' disease course in 6 months, 12 months, and 24 months, respectively. The mean tumor volume is 0.6 (SD = 1.0) cm3, 81.3% of the patients' tumor volume ≤ 1.0 cm3. Tumors were distributed sequentially in the head and neck (77.2%), upper limbs (12.9%), trunk (7.6%), and lower limbs (2.3%). The correct rates of clinical and ultrasonic diagnosis were 50.9% and 38.6%, respectively. The two most common pathological features of pilomatrixoma were shadow cells (99.4%) and basaloid cells (94.7%). There were no significant differences in age, disease course, or tumor volume between the male and female patients (P > 0.05). The age and tumor volume of the patients in different body parts were significantly different (P1 = 3.10E-05 and P2 = 5.60E-05, respectively). The correlation between the disease course and tumor volume was positively significant (P ≤ 0.05). There was a significantly correlation between the disease course and tumor volume in patients with tumors at upper limbs (P = 0.03). Conclusion The age of children with pilomatrixoma presented two peaks and two valleys. Most patients had disease courses in 24 months and with tumor volumes ≤ 1.0 cm3. The correct rates of clinical and ultrasonic diagnosis were relatively low. The head and neck are the most common distribution sites of pilomatrixoma, shadow cells and basaloid cells are the most common pathological features. The tumor volume is positively correlated with disease course in patients with pilomatrixoma.