Hemosiderin Research Articles

Safety and Effectiveness of a New 532 nm, Long Pulse-Duration, Variable Pulse Structure Laser for Treatment of Poikiloderma of Civatte.

Poikiloderma of Civatte is a benign skin condition characterized by reticulate erythema and hyperpigmentation in sun-exposed areas, predominantly on the neck, cheeks, and chest. Chronic UV exposure leads to vascular proliferation and red cell extravasation resulting in hemosiderin and melanin deposition. While many light-based modalities have been utilized to treat the disorder, the significant vascularity makes it ideally suited for treatment with vascular lasers. This study aims to evaluate the safety and efficacy of a new, long-pulse-duration, Nd:YAG laser incorporating a KTP frequency-doubling crystal and cryogen spray cooling for the treatment of Poikiloderma of Civatte. Twenty subjects with neck and/or chest redness were enrolled in this study and treated using the 532 nm wavelength to treat neck and chest redness. Four treatments were administered at monthly intervals and pre- and 2-month posttreatment images were obtained. Images were randomized and evaluated by three physician evaluators for degree of improvement. Average improvement 2-months posttreatment were 74.1 ± 20.2% and 68.4 ± 20.5% for the neck and chest, respectively (p < 0.0001). Side effects were minimal and limited to posttreatment erythema, edema, and purpura. This study demonstrates that this new long pulse-duration, Nd:YAG laser incorporating a KTP frequency-doubling crystal using the 532 nm wavelength is safe and effective for the treatment of Poikiloderma of Civatte.

Histological investigation for the effect of non-steroidal anti-inflammatory drug [diclofenac] on myocardium and lung of local breed Rabbit

Nonsteroidal anti-inflammatory drugs (NSAIDs) are widely used as analgesics, anti-inflammatory agents, and antipyretics. The goal of this study was to perform a histological assessment of therapeutic and overdose dosages of diclofenac on the heart and lung tissues and serum Troponin I, Lactate Dehydrogenase, and Creatine Kinase. Thirty local breed rabbits weighing 1000 and 1400 grams were used, divided into four groups: therapeutic group I, overdose group II, overdose group III, and control group. Each group was injected intraperitoneum with different doses of diclofenac (2, 20, 50 mg/kg) once daily for 20 days, while the control group was injected with normal saline. The results of heart sections in the experimental groups showed numerous histological alterations. In group I, muscle fibers were degenerated, lipid droplets within hemolyzed, and fibrinoid deposition in congested blood vessels. Group II showed a woven appearance of muscle fibers, atrophied muscle fibers, and an increased presence of fibroblasts between blood vessels and adjacent muscle fibers. In group III, colloid appearances, pavement of inflammatory cells on the tunica intima of a congested blood vessel, muscle fiber necrosis, and hemosiderin deposits were observed between muscle fibers. The lung results referred to that group I had thickened the interstitial connective tissue, hyperplasia in connective cells, and cytoplasmic vacuolation of type I alveolus cells. In group II, the results revealed folded alveolar walls, droplets in hemolyzed congested blood vessel, and aggregation of desquamated cells within the lumen of alveoli. Group III showed engorged pulmonary vessel, folded alveolar walls surrounded with inflammatory cells infiltration. The results of serum Troponin I, creatine kinase and Lactate dehydrogenase showed a significant increase in between the experimental group when compared with control group, otherwise, the results of Troponin I in group III showed a significant decrease when compared with the control group on level 0.05%. Finally, the results of serum cholesterol a significant increase in between experimental when compared with control group on level 0.05%.

Idiopathic pulmonary hemosiderosis: challenges of differential diagnosis

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease of unclear etiology that belongs to interstitial lung diseases and is characterized by a triad of symptoms: hemoptysis, iron deficiency anemia, and diffuse interstitial changes on computed tomography (CT) of the chest cavity. IPH can occur at any age, but the disease develops in childhood in 80% of cases, more often before 10 years of age. A significant proportion of pulmonary hemosiderosis cases in this age group remain undiagnosed. The purpose of the study is to demonstrate a clinical case illustrating the features of differential diagnosis and therapy of IPH during the COVID-19 pandemic. Conclusion. An 8-year-old girl was diagnosed with IPH based on fever, shortness of breath, weakness, and severe iron-deficient anemia. The chest CT scan revealed diffuse interstitial ground-glass opacity in lungs. The lung biopsy revealed hemosiderin deposits and hemosiderophages in the alveolar lumens. Treatment with systemic glucocorticoids (SGC) and azathioprine was effective. The patient was followed for 3 years.

Stasis dermatitis and pigmented purpuric dermatoses: Histological characterization and review of literature

AbstractBackgroundStasis dermatitis and pigmented purpuric dermatoses can both manifest as hyperpigmentation, petechiae and/or purpura on the lower extremities, posing a challenge for macroscopic differentiation. We investigated the histological differences in these two conditions.ObjectivesTo determine the histological characteristics of stasis dermatitis and pigmented purpuric dermatosis.MethodsSkin biopsy specimens were obtained from seven patients with stasis dermatitis, 15 with pigmented purpuric dermatosis, and three control patients. The samples were analysed for histological changes (hematoxylin‐eosin), melanin (silver nitrate), iron, elastic stain, and with an immunohistochemistry for melanocytes (Melan‐A).ResultsThe predominant histological features of stasis dermatitis were hemosiderin deposits, eosinophils and telangiectasias. Pigmented purpuric dermatosis was characterized by extensive erythrocyte extravasation, interface changes and spongiosis.ConclusionsThe distinct histological characteristics of stasis dermatitis and pigmented purpuric dermatosis can improve the diagnostic classification of these entities.

CT and MRI characteristics of inflammatory pseudotumor-like follicular dendritic cell sarcoma of the spleen: a report of 11 patients with pathological correlation.

This study aimed to outline the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of inflammatory pseudotumor-like follicular dendritic cell sarcoma (IPT-like FDCS) in the spleen and to link these imaging features with histopathological findings. A retrospective analysis was conducted on 11 patients (3 males, 8 females; mean age, 63.3 ± 9.66years; age range, 44-76years; median age, 62years) with histopathologically confirmed inflammatory pseudotumor-like follicular dendritic cell sarcoma of the spleen (IPT-like FDCS). The study encompassed a comprehensive review of initial clinical manifestations, macroscopic pathological alterations, along with histopathological and corresponding immunohistochemical findings. CT (n = 10) and MRI (n = 8) characteristics were meticulously assessed by two experienced radiologists, who evaluated parameters including lesion number, size, shape, margin definition, capsular integrity, attenuation, signal intensity, presence of hemosiderin deposition, and patterns of contrast enhancement. In this study, all eleven patients (11/11; 100%) presented with solitary inflammatory pseudotumor-like follicular dendritic cell sarcoma (IPT-like FDCS). The majority of these cases were incidentally detected during routine physical examinations, while one case was revealed through abdominal CT following a decline in platelet count post-radiation and chemotherapy for prostate cancer. The splenic lesions were predominantly oval in shape (10/11; 91%), with a single case exhibiting a lobulated appearance (1/11; 9%). The largest lesion diameter was 18cm, with diameters ranging from 3.3 to 18cm, averaged 6.5cm, and a median diameter of 5.0cm. On plain CT images, the lesions were primarily observed as hypodense with poorly defined margins. On contrast-enhanced CT, all lesions (10/10; 100%) promptly became sharply demarcated in the arterial phase, encircled by a perceptible, relatively hypodense capsule-like rim. On T2-weighted MRI, all lesions (8/8; 100%) displayed a characteristic rim-like low-intensity capsular margin. These low-signal/density capsular margins were pathologically confirmed to be capsules containing fibrous components. IPT-like FDCS is very rare but has characteristic imaging features that correlate with its pathology.

Magnetic resonance imaging findings of cerebral venous malformations.

Our study aimed to evaluate the incidence and anatomical locations of cerebral venous malformations (CVMs), their alterations over time, and magnetic resonance imaging (MRI) findings of their relationships with each other in patients who underwent magnetic susceptibility-weighted imaging (SWI) and contrast-enhanced MRI. The drainage pattern of developmental venous anomalies (DVAs), the number of collecting veins, DVA thrombosis, signal-intensity abnormalities, and hemosiderin deposits (nodular, diffuse, or both) related to the DVA, were examined. The alterations over time in cavernomas (type and size) were assessed. The study evaluated 7,826 patients who had 8,957 magnetic SWIand contrast-enhanced brain MRIs. A total of 643 CVMs were detected in 520 patients. The frequencies of DVAs, cavernomas, and capillary telangiectasias were 5.26%, 1.28%, and 0.62%, respectively. Isolated DVAs were detected in 430 (71.5%), cavernomas in 77 (12.8%), and capillary telangiectasias in 52 (8.7%) cases of CVMs. The coexistence of DVA with cavernoma and DVA with capillary telangiectasia was found in 38 (6.3%) and 4 (0.7%) cases, respectively. DVA drainage was largely provided by a single collecting vein. Signal-intensity abnormalities associated with the DVA were observed in 7, and two patients had DVA thrombosis. Hemosiderin deposits were nodular in 14 cases, diffuse in three, and both nodular and diffuse in two. In a follow-up of 11 (7.8%) cavernomas, alterations in the type and size were detected. It is not uncommon for cavernomas to become symptomatic owing to alterations in their nature, size, and type over time, while DVAs rarely become symptomatic. Capillary telangiectasias are vascular malformations that tend to remain stable in terms of clinical and imaging features, and those with supratentorial localization are detected more frequently in the frontal lobe. On magnetic susceptibility sequences, hemosiderin deposits can be seen in the GVA region, not rarely but more frequently in nodular form, as well as in diffuse or nodular or diffuse and nodular forms.

Effectiveness of the quercetin use in patients with COVID-19 with concomitant type 2 diabetes mellitus

AimTo conduct a comparative analysis of the effectiveness of basic therapy and basic therapy with the inclusion of quercetin in patients with COVID-19 with concomitant type 2 diabetes.Material and methodsThere were examined 60 patients with COVID-19 with concomitant T2DM. Upon admission into the hospital and again after 10 days, serum levels of interleukin-6, C-reactive protein, procalcitonin, ferritin, endothelin-1 were determined, and capillaroscopy of the nail plate was performed. Patients of the group I (30) against the background of protocol therapy received 0.5 g of quercetin intravenously once a day for 10 days. Patients of the group II (30) received to basic therapy.ResultsAfter the treatment in patients of the group I general weakness decreased, body temperature normalized, improved saturation indicators, the level of acute-phase parameters (interleukin-6, CRP and ferritin) significantly decreased, a positive effect of quercetin on the level of D-dimer in blood serum was noted, indices of pericapillary edema and hemosiderin deposition significantly decreased, indices diameter of the arterial part of the capillary and capillary network density significantly increased.ConclusionsThe use of quercetin against the background of basic therapy in patients with COVID-19 and concomitant T2DM reliably reduces the level of acute-phase indices, has an important clinical significance for reducing endothelial dysfunction and for preventing thrombotic complications.

Oral Kaposi sarcoma in Brazil: a case series of 40 patients highlighting a significant health burden.

The aim of this study was to provide a comprehensive clinicopathological analysis of oral Kaposi sarcoma (KS) cases and examine its relationship with HIV-related immunosuppression. Paraffin-embedded tissue blocks of patients microscopically diagnosed with oral KS were retrieved from three oral and maxillofacial pathology files. Data including clinical, laboratory, microscopic and immunohistochemical findings and treatment employed were retrieved. A total of 40 patients with an average age of 33.5 years, with a male predominance were retrieved. The most common site was the hard palate, followed by the gingiva. Oral lesions were the first sign of KS in 57.5% of cases. Laboratory findings revealed an average viral load of 185,416 copies/mL, a mean CD4 count of 159.95 cells/mm³, CD8 count of 1062.65 cells/mm³, and a CD4/CD8 ratio of 0.148 cells/mm³. Histopathology showed spindle-shaped cell proliferation, vascular channels, hemorrhage, and hemosiderin deposits. Immunohistochemistry confirmed positivity for CD34, CD31, and HHV-8. Patients were treated with highly active antiretroviral therapy (HAART) (75%), and chemotherapy (47.5%). Oral KS remains a significant marker of HIV-related immunosuppression, especially where the burden of disease remains substantial. While HAART plays a critical role in managing KS, combined chemotherapy is often necessary for advanced cases.

Villonodular Synovitis of the Index Finger: A Case Report

Villonodular Synovitis (VNS) is a rare condition characterised by abnormal growth of synovial tissue and accumulation of haemosiderin within joints, tendon sheaths and bursae. While the exact aetiology remains unclear, chronic inflammation is a leading theory. Although VNS typically affects large joints, the present case report highlights the possibility of its occurrence in smaller joints like the index finger. Early diagnosis and surgical intervention are crucial for effective management of VNS. The present case report underscores the importance of considering VNS in the differential diagnosis of soft-tissue masses, even in atypical locations. The present case report describes a 24-year-old male presenting with a decade-long history of pain and swelling in his right index finger. Despite initial radiographic findings being normal, Magnetic Resonance Imaging (MRI) revealed a well-defined soft-tissue mass involving the proximal and middle phalanx, flexor tendons and annular pulley. The presence of haemosiderin deposition within the mass was evident on MRI. The patient underwent open synovectomy, during which a brownish nodular synovium was observed, further supporting the diagnosis of VNS. Histopathological Examination (HPE) of the removed synovial tissue confirmed the presence of haemosiderin granules and haemosiderin-laden macrophages, solidifying the diagnosis of VNS. Post-surgery, the patient initiated a regimen of passive flexion and extension exercises for 15 days. At the 12-month follow-up, there were no clinical or radiological signs of recurrence and the patient had regained full range of motion.

Prevalence and Clinical Implications of Hemosiderin Deposits in Recent Small Subcortical Infarcts.

A quarter of ischemic strokes are of lacunar clinical subtype and have an underlying recent small subcortical infarct (RSSI), but their long-term outcomes remain poorly characterized. Hemosiderin deposits (HDs) have been noted in RSSIs at chronic stages and might mimic primary hemorrhage. We characterized HDs' morphology, frequency, and clinical relevance. Participants with RSSIs were identified from a prospective longitudinal study and evaluated on 3T MRI including susceptibility-weighted imaging (SWI) from stroke diagnosis to 12 months. We categorized HDs in RSSIs on SWI at all available time points into 4 types (spots, smudge, rim, cluster) and assessed their associations with demographic factors, stroke-related factors, and image markers with adjusted logistic regression. HDs were observed in 43 (55.0%) of 108 participants within 3 months and 83 (76.9%) of 108 within 12 months after stroke onset. The mean time to first detection of HDs was 87 (interquartile range 53-164) days. A "rim" pattern (similar to late appearance of primary hemorrhage) occurred in at least 26.5% of RSSIs at all follow-up time points, mainly those located in the lentiform/internal capsule (50.0%) or thalamus (36.4%). Infarct volume (odds ratio [OR] 1.003, 95% CI 1.001-1.006; p = 0.004) and the total small vessel disease (SVD) score at baseline (OR 2.50, 95% CI 1.28-4.86, p = 0.007) independently predicted HDs at 12 months. HDs were positively associated with more lacunes (OR 1.60, 95% CI 1.13-2.26, p < 0.01), but not the Fazekas score, number of microbleeds, basal ganglia mineral deposit score, or clinical outcomes. HDs occur commonly in RSSIs and may be associated with infarct volume and SVD score. Hemosiderin "rim" is common in RSSIs, urging caution to avoid mistaking ischemic RSSI for primary hemorrhage in subacute and chronic stages.

Prediction of cardiovascular events after carotid endarterectomy using pathological images and clinical data.

Carotid endarterectomy (CEA) is a surgical treatment for carotid artery stenosis. After CEA, some patients experience cardiovascular events (myocardial infarction, stroke, etc.); however, the prognostic factor has yet to be revealed. Therefore, this study explores the predictive factors in pathological images and predicts cardiovascular events within one year after CEA using pathological images of carotid plaques and patients' clinical data. This paper proposes a two-step method to predict the prognosis of CEA patients. The proposed method first computes the pathological risk score using an anomaly detection model trained using pathological images of patients without cardiovascular events. By concatenating the obtained image-based risk score with a patient's clinical data, a statistical machine learning-based classifier predicts the patient's prognosis. We evaluate the proposed method on a dataset containing 120 patients without cardiovascular events and 21 patients with events. The combination of autoencoder as the anomaly detection model and XGBoost as the classification model obtained the best results: area under the receiver operating characteristic curve, accuracy, sensitivity, specificity, and F1-score were 81.9%, 84.1%, 79.1%, 86.3%, and 76.6%, respectively. These values were superior to those obtained using pathological images or clinical data alone. We showed the feasibility of predicting CEA patient's long-term prognosis using pathological images and clinical data. Our results revealed some histopathological features related to cardiovascular events: plaque hemorrhage (thrombus), lymphocytic infiltration, and hemosiderin deposition, which will contribute to developing preventive treatment methods for plaque development and progression.

Clinicopathological analysis of sclerosing haemangiomatoid nodular transformation of the spleen: analysis of three cases and a literature review

ObjectiveTo examine the clinicopathological features, immunohistochemical profiles, and differential diagnosis of sclerosing angiomatiod nodular transformation (SANT).MethodsThree cases of SANT of the spleen, diagnosed between 2014 and 2023 at the Affiliated Hospital of Zunyi Medical University, were analysed. Pathological features were assessed using haematoxylin and eosin staining, followed by immunohistochemistry with the EnVision system. Additionally, a review of relevant literature was conducted.ResultsThe study included one male and two female patients aged 40–55 years, with a median age of 47.5 years. All lesions were solitary, with tumour diameters ranging from 4 to 7.4 cm (mean 5.7 cm). Gross examination demonstrated that the masses were well-demarcated from the surrounding splenic tissue, with no evident capsule. The cut surfaces of the masses exhibited irregular, porcelain-white nodules that were tough in consistency, with some areas intermingling with splenic tissue. Microscopic examination revealed round or circular nodules comprising multiple slit-like or sinusoidal capillaries, separated by concentric collagen fibres. The nodules exhibited chronic inflammatory cell infiltration, calcification, haemosiderin deposition, and fibrous connective tissue with hyaline or mucoid changes. Immunohistochemical analysis demonstrated differential expression of markers, including cluster of differentiation (CD) 34, CD31, and CD8, within the sinusoidal nodule areas. Periodic acid-Schiff staining was positive for perinodular collagen deposits, while reticulin staining highlighted nodule profiles and intranodular vessels. None of the patients experienced postoperative recurrence or metastasis, and one patient was on aspirin for thrombocytosis.ConclusionSANT of the spleen is generally considered a rare, benign lesion with angioma-like characteristics. It exhibits exhibiting distinctive histomorphological features within the red pulp. Understanding the differential diagnosis is crucial to prevent missed or incorrect diagnoses.

Perinephric myxoid pseudotumor of fat: A series of 13 cases and literature review

Perinephric myxoid pseudotumor of fat (PMPF) is a recently described and rare retroperitoneal mass-forming lesion whose clinical significance chiefly involves mimicry of a variety of soft tissue tumors. For unknown reasons, it commonly occurs in male patients with underlying non-neoplastic renal diseases and/or type 2 diabetes (DMT2). A total of 55 cases have been reported in the literature. Recently, we have encountered 13 such masses with peculiar histologic features; thus, we sought to investigate our experience and review the clinicopathologic characteristics of the literature. Our series confirms that PMPF frequently occurs in adult male patients (11/13, 85%), with an average age of 66 years, and commonly co-occurs with renal disease, such as DMT2 (2/13, 15%), end-stage renal disease (ESRD) (5/13, 39%), renal cysts (4/13, 31%), concurrent or prior renal neoplasia (2/13; 15%), and myeloma/lymphoma (2/13; 15%). Histologic evaluation shows lipomatous masses commonly showing variable amounts of fat necrosis, myxoid degeneration, lymphoplasmacytic inflammation and lacking atypical hyperchromatic stromal spindle cells. Unusual histologic features include extramedullary hematopoiesis (1/13, 8%), hemosiderin deposition (4/13, 31%), and small wisps of mature smooth muscle (6/13, 46%). All cases tested were negative for MDM2 and did not show an increased ratio of IgG4+/IgG+ plasma cells. Our study confirms the clinical and pathologic features of PMPF and expands its histologic spectrum, underscoring the importance of this entity as a benign pseudotumor which should be included in the differential diagnosis of other fat-containing retroperitoneal masses, particularly well-differentiated liposarcoma.

The Correlation of Vessel Wall Macrophage Infiltration With Hemosiderin in Arteriovenous Malformations

Endothelial dysfunction, induced by high shear stress from increased nidal blood flow, may promote a cycle of inflammation, possibly leading to instability and cerebral arteriovenous malformations (AVMs) rupture. Macrophages, identified with CD68, are key inflammatory components in AVM pathology. We aim to evaluate the relationship of inflammation with AVM flow and hemosiderin. This is a retrospective study of archived tissue. Adult patients (2002-2022) with baseline quantitative magnetic resonance angiography (QMRA) imaging, no embolization, and history of microsurgical resection (n=17), with both ruptured (n=9) and unruptured cases (n=8). Brain AVM sections were stained with CD68 to quantify vessel wall macrophage infiltration and hematoxylin and eosin stain as a control and to quantify hemosiderin. QMRA with noninvasive optimal vessel analysis (NOVA) was reviewed, and AVM flow was calculated. Statistical analyses were performed. There were no significant differences between macrophage infiltration and patient demographics, Spetzler-Martin grade, eloquence, venous stenosis, nidus compactness, volume, and AVM flow. Vessel wall macrophage infiltration positively correlated with patients who presented with confirmed AVM rupture (163.8 +/- 46.7 vs. 101.3 +/- 49.4, p=0.017). Increases in vessel wall macrophage infiltration were found to positively correlate with higher grades of hemosiderin (p=0.023), except for grade 4 hemosiderin. Venous anomaly showed a negative association with macrophage infiltration (p=0.035). These findings suggest a relationship between AVM vessel wall inflammation, hemosiderin, and hemorrhage presentation. Further investigations with larger sample sizes are warranted to understand the role of altered hemodynamics, hemosiderin deposition and inflammation in AVM vessel walls.

Lesion-like effect of gliosis secondary to deep brain stimulation electrode infection: illustrative case.

Deep brain stimulation (DBS) is commonly used to treat Parkinson's disease (PD) and other movement disorders when other treatments fail. Although DBS can significantly improve motor symptoms, it carries risks such as infections, which can require multiple surgeries and prolonged antibiotic therapy. Research on the long-term neurological effects of DBS-related infections is limited. A 58-year-old man with a 13-year history of PD, refractory to optimized clinical management, underwent subthalamic nucleus (STN) DBS after previous contralateral lesioning of the posterior subthalamic area. Postoperatively, the DBS lead migrated upward and was repositioned, but he developed perielectrode cerebritis 5 days later. The DBS system was completely removed, and he underwent a 28-day course of intravenous antibiotics. Initially, his motor symptoms remained unchanged, but 4 months later, he experienced a significant and sustained motor symptom improvement that continued until the last follow-up assessment (40 months). Magnetic resonance imaging performed 2 years after the explantation showed gliosis and hemosiderin deposition in the STN, suggesting that the infection-induced gliosis had a lesion-like effect, leading to the observed clinical improvement. This case suggests that infection-induced gliosis from DBS complications can unexpectedly result in long-term motor symptom improvements, potentially influencing future management strategies for similar cases. https://thejns.org/doi/10.3171/CASE24502.

Features of Magnetic Resonance Diagnostics of Tenosynovial Giant Cell Tumor (Pigmented Villonodular Synovitis)

Aim. Demonstrate the features of magnetic resonance diagnostics of tenosynovial giant cell tumor.Materials and Methods. Using magnetic resonance imaging, we identified patients with tenosynovial giant cell tumor of the knee joint, describing the diagnostic features and clinical course of diffuse and local forms of the tumor.Results. Specific MRI patterns of tenosynovial giant cell tumor are hemosiderin deposits, villous and nodular growths of the synovium of the knee joint, joint effusion and bone erosion.Conclusion. Тenosynovial giant cell tumor is a rare mesenchymal neoplasm arising from the synovium of joints and tendon sheaths, disabling young able-bodied people. Magnetic resonance imaging, being the “gold” standard for radiological diagnostics, helps to identify specific patterns.

Multimodal Optical Imaging of Ex Vivo Fallopian Tubes to Distinguish Early and Occult Tubo-Ovarian Cancers.

Background: There are currently no effective screening measures to detect early or occult tubo-ovarian cancers, resulting in late-stage detection and high mortality. This work explores whether an optical imaging catheter can detect early-stage tubo-ovarian cancers or precursor lesions where they originate in the fallopian tubes. Methods: This device collects co-registered optical coherence tomography (OCT) and autofluorescence imaging (AFI). OCT provides three-dimensional assessment of underlying tissue structures; autofluorescence imaging provides functional contrast of endogenous fluorophores. Ex vivo fallopian tubes (n = 28; n = 7 cancer patients) are imaged; we present methods for the calculation of and analyze eleven imaging biomarkers related to fluorescence, optical attenuation, and OCT texture for their potential to detect tubo-ovarian cancers and other lesions of interest. Results: We visualize folded plicae, vessel-like structures, tissue layering, hemosiderin deposits, and regions of fibrotic change. High-grade serous ovarian carcinoma appears as reduced autofluorescence paired with homogenous OCT and reduced mean optical attenuation. Specimens containing cancerous lesions demonstrate a significant increase in median autofluorescence intensity and decrease in Shannon entropy compared to specimens with no lesion. Non-cancerous specimens demonstrate an increase in optical attenuation in the fimbriae when compared to the isthmus or the ampulla. Conclusions: We conclude that this approach shows promise and merits further investigation of its diagnostic potential.

Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings.

Biallelic loss of function variants in ESAM (endothelial cell adhesion molecule) have recently been reported in 14 individuals (9 families) presenting with prenatal intracranial hemorrhage. Here, we describe four patients from two unrelated families in whom three of them presented with variable onset encephalopathy and seizures while one only displayed profound delay without seizures. Brain MRI showed variable onset intracranial hemorrhage that evolved to hydrocephalus in 3 patients, whereas hemosiderin deposits, white matter volume loss, and porencephalic cysts were noted in one patient. Unlike the majority of described cases, the youngest brother of the first family did not show microcephaly and failure to thrive. Exome sequencing identified two novel homozygous ESAM variants. A splice variant (c.731-2A>G) was identified in one family which was confirmed by investigating the patient's mRNA to result in exon skipping and early protein truncation. In addition, a missense variant (c.561G>C; p.Trp187Cys) was identified in the other family, which is the first disease causing missense variant to be described in patients with ESAM deficient phenotype. In addition, a maternally inherited pathogenic MC4R variant (c.811T>C; p.Cys271 Arg) was also identified in the youngest brother of the first family. Variants in the MC4R gene are associated with a non-syndromic form of obesity that could explain the unusual macrocephaly and obesity. Our work establishes ESAM as a tight junction gene that can present with variable neuroradiological and clinical phenotypes when mutated. Moreover, it refines the phenotype of this ultrarare syndrome and extends the number and type of variants described to date.

Rare Encounter: A Study of Oral Cavity Kaposi Sarcoma in Two Cases

Abstract Introduction/Objective Kaposi Sarcoma (KS) of the oral cavity, is an unusual vascular endothelial neoplasm and is the most common malignancy affecting the skin and internal organs in patients with AIDS. The tumor is caused by Human herpesvirus 8 (HHV-8). It rarely metastasizes and can be treated and totally cured by treating the AIDS disease. The oral cavity may be the only/ first site of KS, and therefore, is important in the diagnosis. The lesions present as multiple red-purple macules that develop into plaques or nodules. The hallmark microscopic features are spindle cell proliferation and irregular small, vascular slits, which often run parallel to the epithelium, as well as extravasated RBCs, with hemosiderin deposition and hyaline globules in 50% of lesions. HHV-8 nuclear staining is positive in all cases, which is crucial to differentiate it from other conditions with positivity for spindled cell markers: CD34, CD31, ERG, and FVIII R. The tumor can also be positive for lymphatic-specific markers (D2-40, LYVE-1, VEGFR3, and PROX1) Methods/Case Report We reviewed retrospectively archived cases from our TUH oral pathology database with available H&amp;E slides diagnosed for Kaposi sarcoma between 2013 – 2023. We retrieved two confirmed cases, and we reviewed the slides and clinical information. Results (if a Case Study enter NA) Data were colleceted and analysed. Conclusion Incorporating Kaposi sarcoma into the differential diagnosis of pigmented red-purple vascular lesions in the oral cavity is of paramount importance. Detection of Kaposi sarcoma in this region bears significant prognostic implications, often serving as an initial sign of Kaposi sarcoma and indicating HIV infection. Lesions typically localize on the palate and gingiva. Heightened awareness of this clinical entity is crucial for facilitating early detection and treatment with antiretroviral drugs. Furthermore, the differential diagnosis for lesions with similar clinical presentations encompasses a broad spectrum, including benign conditions such as pyogenic granuloma, hemangioma, bacillary angiomatosis, and even granulation issue, as well as malignant tumors like angiosarcoma. It is noteworthy that considering Kaposi sarcoma in this context prompts pathologists to prioritize ordering stains for HHV-8. This diagnostic approach is supported by the exceptional sensitivity and specificity of HHV-8 stains, which exhibit 99% sensitivity and 100% specificity for diagnosing Kaposi sarcoma, while consistently yielding negative results in all other entities within the differential diagnosis.

Pigmented Purpuric Dermatoses in Children: A case Report &amp; Importance of Clinicopathological Correlation

Abstract Introduction/Objective Pigmented purpuric dermatoses are characterized by chronic but benign cutaneous eruptions featuring petechiae, purpura, or yellow to brown patches. It is more common in adult males and adolescents is generally localized on the lower limbs and has been reported in children multiple times. Our objective is to bring to consideration that it is not very uncommon in children and clinicopathological correlation is very important for a confirmed diagnosis. Methods/Case Report In our study, we report a case of 9 years 9-year-old girl with asymptomatic brown patches on lower legs bilaterally but asymmetrically since &amp;gt; 6-8 months. Histopathology was suggestive of typical features suggestive of PPD, including dilated blood vessels, endothelial cell swelling, hemosiderin deposition, red cell extravasation, and perivascular lymphocytic-macrophage infiltration. Pediatric instances of PPD are infrequently documented, due to their exclusion from the other differential diagnosis of purpura, post-inflammatory hyperpigmentation, and atopic dermatitis in this age group. Because these conditions lack systemic findings and share similar clinical presentations with other skin disorders, they may be overlooked or mistaken for more common conditions in pediatric patients. Histopathology plays a vital role in case of patches of persistent pigmentation on the skin especially lower limbs to rule out PPD. In many cases of pediatric PPD, it is usually considered self-resolving, but there is complete resolution has also been reported with Vitamin C, rutoside, narrow-band ultraviolet B treatment, and topical corticosteroids. Results (if a Case Study enter NA) In many cases of pediatric Pigmented purpuric dermatosis is usually considered as self-resolving, but there is complete resolution has also been reported with Vitamin C, rutoside [3] narrow-band ultraviolet B treatment and topical corticosteroids. Conclusion Our study aims to emphasize improving diagnostic accuracy, especially in pediatric cases, enhancing outcomes, and understanding the necessity of histopathological diagnosis in pediatric PPD cases. We also seek to abate the risk of misdiagnosis or underdiagnosis, and the need for increased awareness of this diagnosis in pediatric cases so that we can counsel and manage patients and their families accordingly. Through a comprehensive review of existing literature, we advocate for the inclusion of Schamberg’s type purpura as a differential diagnosis for purpuric eruptions or cutaneous discoloration in childhood.