Diagnostic Utility of Direct Immunofluorescence on Paraffin-Embedded Skin Biopsy Samples for the Diagnosis of Autoimmune Vesiculobullous Lesions.

Background Autoimmune vesiculobullous diseases (AIBDs) are a group of diseases characterized by blisters of the skin/mucosa due to the presence of circulating autoantibodies against antigens in the epidermis or the dermo-epidermal junction. Direct immunofluorescence (DIF) for immunoglobulin (Ig)G, IgC3, and IgA on fresh-frozen tissue is the gold standard diagnostic test for AIBDs. However, DIF in the absence of frozen tissue is challenging for the diagnosis of AIBDs. This study aimed to analyze the practical utility of DIF using paraffin-embedded skin biopsy rather than fresh frozen tissue for the diagnosis of AIBDs. Methodology This cross-sectional comparative study included 30 cases of AIBDs. DIF for IgG and IgA was performed on paraffin-embedded tissue (PE-DIF) after proteinase digestion on histopathologically confirmed 15 pemphigus vulgaris (PV), three pemphigus foliaceous (PF), four bullous pemphigoid (BP), three dermatitis herpetiformis (DH), three subcorneal pustular dermatosis (SCPD), and one case each of linear IgA disease and pemphigoid gestationis (PG). PE-DIF staining pattern was compared with the DIF on fresh frozen tissue (FF-DIF). Results All cases of PV and PF showed an intercellular IgG chicken wire staining pattern similar to FF-DIF. However, background staining was more intense in PV cases while less intense in PF cases. Three BP cases showed linear IgG staining in PE-DIF. DH, SCPD, linear IgA disease, and PG cases did not show IgG positivity. Out of three DH cases, two cases showed granular IgA positivity while linear IgA positivity along the basement membrane was seen in a single case of linear IgA disease. Negative IgG staining was observed in SCPD. Immunofluorescence in PE-DIF was rapidly deteriorating than in FF-DIF. Conclusions DIF done on paraffin-embedded tissue can be used as a supplement and salvage technique with histopathology for the diagnosis of AIBDs, particularly when a cryostat facility for frozen tissue is not available and the patient is unable to undergo a second biopsy procedure.

Solitary Extramedullary Plasmacytoma of Nasal Cavity.

Solitary extramedullary plasmacytoma (SEP) of the nasal cavity is a rare neoplastic condition characterized by the localized proliferation of abnormal plasma cells. We present a case of SEP involving the nasal cavity in a 40-year-old male patient who presented with nasal obstruction and recurrent epistaxis. The diagnosis was confirmed through clinical evaluation, imaging studies, and histopathological examination of excised specimen. The patient underwent trans-nasal endoscopic excision of nasal mass without any adjuvant therapy, which resulted in successful local control. This case report highlights the clinical presentation, diagnostic approach, treatment modalities, and favourable prognosis associated with solitary extramedullary plasmacytoma of the nasal cavity.

Role of cytopathology in diagnosing phaeohyphomycosis masquerading as nerve abscess in a lepromatous leprosy patient: A case report.

INTRODUCTION AND IMPORTANCE: Phaeohyphomycosis is a rare fungal infection primarily affecting immunocompromised individuals. Its clinical manifestations are diverse, and diagnosis can be challenging, particularly when lesions mimic other conditions. CASE PRESENTATION: A 66-year-old male, with a history of irregular leprosy treatment and prolonged steroid use, presented with symptoms suggestive of a nerve abscess. On examination, cystic swellings were observed on the left thumb and leg. Histopathological examination and fine needle aspiration cytology (FNAC) revealed melanized hyphae, leading to a final diagnosis of phaeohyphomycosis. The patient was treated with oral itraconazole, leading to regression in lesion size. CLINICAL DISCUSSION: Leprosy patients on long-term steroids are especially susceptible. The pathogenicity of these fungi in immunocompetent people is believed to be due to melanin in their cell walls, which defends against host defenses. Diagnosis involves histopathological examinations, staining, and fungal culture. Treatment involves surgical excision and antifungal drugs. If untreated, it can lead to severe complications including fatal brain infections. CONCLUSION: This case highlights the unusual presentation of phaeohyphomycosis mimicking a nerve abscess in a leprosy patient. It underscores the importance of a high degree of clinical suspicion in diagnosing such rare infections, particularly in immunocompromised individuals. It also emphasizes the value of FNAC in reaching a definitive diagnosis. Prompt diagnosis and appropriate treatment are essential to prevent potentially serious outcomes.

Hypoplastic coronary artery disease, as a cause of sudden death.

Hypoplastic coronary artery disease (HCAD) is a rare coronary artery anomaly that may be the cause of sudden death. It can involve a single or all coronary arteries. This anomaly may cause circulatory insufficiency leading to myocardial infarction. HCAD has no symptoms or may exhibit cardiovascular signs like syncope, dyspnea, chest discomfort, or dizziness. It is often diagnosed at autopsy, and early diagnosis is made with a coronary angiogram. We report HCAD as the cause of the sudden death of a 25-year-old female with a history of loss of consciousness following exertion. On autopsy, all the coronary arteries' lumen was narrowed with thin vessel walls. Histopathological examination shows an underdeveloped and missing muscular layer of the left anterior descending and circumflex coronary arteries' vascular wall. Many cases of HCAD diagnosed by radiographic imaging in living patients have been reported in the literature, but a structural anomaly of coronaries leading to HCAD has not been reported. We report a case of HCAD describing the histopathological examination findings of the vascular wall of coronary vessels illustrating the structural difference.

Phosphine Gas Poisoning: A Case Report.

ABSTRACT: In agrarian countries, several pesticides are used on a large scale to preserve grains. However, oftentimes, the very people using it are not aware of their harmful effects. Some pesticides produce toxic gases, which can cause poisoning by inhalation. With no specific antidotes and limited data on the benefit of therapeutic interventions, such poisonings can lead to fatalities. This case report discusses the death of an apparently healthy, 6-year-old boy who presented with multiple episodes of vomiting and loose stools and was declared dead on arrival to the hospital. His other siblings and the parents also experienced similar symptoms but survived. Further investigation revealed that the family lived in a closed, poorly ventilated room adjacent to a granary where their landlord stored grains with pesticides for the purpose of preservation. However, during rainy season, moisture came into contact with the grains and toxic gases were released. The family was exposed to these gases through a small window in the living room, proving fatal to one member of the family. This article suggests that phosphine gas was liberated from an aluminum phosphide pesticide and emphasizes the need for improved knowledge, recognition, prevention, and management in such scenario.

Evaluation of Immunohistochemical Expression of Enhancer of Zeste Homolog 2 (EZH2) and Its Association With Clinicopathological Variables in Carcinoma Cervix.

INTRODUCTION:  Carcinoma cervix is the fourth most common cancer worldwide and is one of the leading causes of cancer death in women. Recently, immunohistochemical expression of biomarkers has been utilized as indicators of disease progression, aggressiveness for predicting the prognosis in various cancers. DNA methylation of genes plays an important role in pathogenesis of carcinoma cervix and detection of aberrant methylation can be utilized for detection of carcinoma cervix and monitoring of its progression. Enhancer of Zeste Homolog 2 (EZH2) is a histone methyltransferase and catalyzes methylation of histone H3 and plays an important role in tumor cell proliferation, invasion, and metastasis. The aim of this study was to analyze the pattern, distribution, and grade of immunohistochemical expression of EZH2 in carcinoma cervix and study its association with clinico-pathological variables such as age, site and size of tumor, type of growth, tumor grade, histological subtype, lymph node metastasis, and stage of the tumor according to the Federation of Gynaecology and Obstetrics (FIGO). MATERIALS AND METHODS:  This observational study was carried out in the Department of Pathology & Lab Medicine, at our institute. A total of 60 consecutive histopathologically confirmed cases of carcinoma cervix from January 2018 to June 2022 were subjected to immunohistochemistry (IHC) for EZH2. The immunohistochemical score for each case was obtained by multiplying the intensity and percentage of positive cells for EZH2. An immunohistochemical score of four or greater than four was considered as high immunoexpression. The immunohistochemical results were correlated with clinico-pathological variables. RESULTS:  The data were analyzed using relevant statistical methods using SPSS version 23 (IBM Corp., Armonk, NY). To find the significant difference (p value) and association, chi-square test along with Pearson chi-square were used, wherever necessary. A p value of <0.05 was considered as significant. High immunoexpreesion of EZH2 exhibited a significant association (p < 0.05) with the tumor grade, histologic subtype, lymphnode metastasis, and FIGO stage. CONCLUSIONS:  The results of our study affirm that a significant association exists between immunohistochemical expression of EZH2 with tumor grade, histological subtype, lymphnode metastasis, and FIGO stage which can be utilized in future studies with larger sample size to further strengthen the association of EZH2 immunoexpression in cancer cervix patients that may aid in the development of the targeted therapy in near future.

The Role of Cytomorphometric Image Analysis in the Diagnosis of Thyroid Nodules.

Introduction Fine needle aspiration cytology (FNAC) plays a vital role in the diagnosis of thyroid nodules. However, it is challenging due to the heterogeneity of thyroid nodules, overlapping cytomorphological features, and interobserver variability. Cytomorphometric analysis turns subjective observations into quantitative values. In this study, we performed cytomorphometric image analysis on cytological smears of thyroid nodules, classified according to The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC). Materials and methods A retrospective analysis of Papanicolaou (PAP) and Hematoxylin & Eosin (H&E) stained fine needle aspirate smears from 50 patients with thyroid nodules with available follow-up histopathology was performed for a period of two years (March 2021 - March 2023), after obtaining approval from the institutional human ethical committee (IHEC-LOP/2020/IM0355). The nodules were categorized according to TBSRTC and were then subjected to cytomorphometric image analysis. Each nucleus was analyzed for 14 parameters, including aspect ratio, intensity, diameter, perimeter, roundness, area, fractal dimension, feret diameter, circularity, radii, fournier description, and chromatin texture parameters such as heterogeneity and clumpiness. The data obtained was analyzed through relevant statistical methods using SPSS version 23 (IBM Inc., Armonk, New York) and was compared by using the analysis of variance (ANOVA) test and post hoc test. Results Our results revealed that cytomorphometric image analysis not only distinguishes benign and malignant thyroid nodules but also can aid in categorizing thyroid nodules with predominant follicular patterns, such as follicular variant of papillary carcinoma, follicular adenoma and follicular carcinoma (p<0.001). Conclusions Morphometric analysis of cytological smears combined with cytomorphology has the potential to be an important tool in the diagnosis of thyroid nodules. It can improve diagnostic accuracy for better treatment and improved prognosis.

Hypoplastic coronary artery disease, as a cause of sudden death

ABSTRACT Hypoplastic coronary artery disease (HCAD) is a rare coronary artery anomaly that may be the cause of sudden death. It can involve a single or all coronary arteries. This anomaly may cause circulatory insufficiency leading to myocardial infarction. HCAD has no symptoms or may exhibit cardiovascular signs like syncope, dyspnea, chest discomfort, or dizziness. It is often diagnosed at autopsy, and early diagnosis is made with a coronary angiogram. We report HCAD as the cause of the sudden death of a 25-year-old female with a history of loss of consciousness following exertion. On autopsy, all the coronary arteries' lumen was narrowed with thin vessel walls. Histopathological examination shows an underdeveloped and missing muscular layer of the left anterior descending and circumflex coronary arteries' vascular wall. Many cases of HCAD diagnosed by radiographic imaging in living patients have been reported in the literature, but a structural anomaly of coronaries leading to HCAD has not been reported. We report a case of HCAD describing the histopathological examination findings of the vascular wall of coronary vessels illustrating the structural difference.

Unusual coexistence of Stewart-Treves syndrome and sickle cell anaemia: a case of dual pathology.

Chronic lymphoedema can rarely be complicated by an angiosarcoma. This combination called Stewart-Treves syndrome usually observed in upper limb in patients of post-mastectomy with axillary lymph node resection. Here, we report a male patient who had a 10-year history of right leg elephantiasis. Later on, he developed two large ulceronodular masses in the same leg with few satellite nodules in the surrounding skin. With the clinical suspicion of malignancy, a wedge biopsy was performed which revealed histological features of angiosarcoma with sickled red cells. The above knee amputation specimen received further confirmed the histological diagnosis. The investigation for haemoglobinopathy also suggested the presence of sickle cell trait. This report describes a multifocal tumour as a rare manifestation of Stewart-Treves syndrome in a post-filariasis case with sickle cell trait, which is an extremely uncommon combination.

Tolosa Hunt Syndrome: A Challenging Diagnosis from Otorhinolaryngologist Perspective-A Case Report.

Tolosa Hunt syndrome is a rare disorder characterized by idiopathic chronic granulomatous lesion involving cavernous sinus. The presenting symptoms are severe frontal headache, periorbital pain, ptosis, and diplopia. Usually, patients with headache and ptosis primarily visit neurologists or ophthalmologists. Only when imaging reveals any intracranial lesion involving paranasal sinuses, these patients get referred to otorhinolaryngologists. We would like to describe here the challenges we faced as otorhinolaryngologist, in diagnosis and management of a case of painful ophthalmoplegia as Tolosa Hunt Syndrome. A 55-year-old male presented to us with complaints of left frontal headache, periorbital pain, diplopia, and ptosis of left eye. Imaging and endoscopic biopsy revealed granulomatous lesion involving cavernous sinus with no evidence of fungal aetiology. Patient responded well to systemic steroid therapy with complete resolution of symptoms and no remission till two years of follow up. Tolosa Hunt Syndrome remains a diagnosis of exclusion. Trans-nasal endoscopic biopsy in selected cases may be contributory to the diagnosis. It responds well to systemic steroid therapy. Although chances of relapse are there yet prognosis is excellent.

Histopathologic spectrum and clinical correlation of lesions of jaw - a series of 60 cases.

Odontogenic tumors have the potential for the development of malformations of the teeth as well as the surrounding tissue. Sound knowledge of various types of jaw lesions and their characteristics will help the clinician with timely measures and management. Our main aim was to study the histopathological nature of various jaw lesions retrieved from biopsies and resected specimens. Consecutive 60 cases of jaw lesions were analyzed. Odontogenic cyst, odontogenic tumor, fibro-osseous lesions, and giant cell lesions were included in this study. Lesions of the oral cavity, soft tissue lesions, secondary and inflammatory lesions of the jaw were excluded. H&E stained slides were examined by light microscopy. A total of 60 jaw lesions were analyzed for histologic type. Odontogenic cysts (55%) were found to be most common followed by odontogenic tumors (25%), fibro-osseous lesions (10%), giant cell lesions (05%), and non-odontogenic cysts (05%). The most commonly affected age groups were between 20-40 years. The mandible was more commonly involved bone. To conclude, based only on histology, the distinction between odontogenic cysts is difficult and almost impossible when they are secondarily infected. For definitive diagnosis clinical-radiological correlation is needed.

Cutaneous mastocytosis-Conglomerate of diagnostic tools: A report of four cases.

Mast cells are naturally distributed in the dermis, respiratory, gastrointestinal/genitourinary mucosa, adjacent to blood vessels, lymphatics, and peripheral nerves. The most common site for the abnormal accumulation of mast cells is the skin, which is known as cutaneous mastocytosis. We report four cases of cutaneous mastocytosis with erythematous maculopapular to bullous lesion along with a positive Darier sign. Skin biopsy, with special stains like Toluidine blue, Giemsa stain, immunohistochemistry (IHC) for CD117, and serum tryptase level correlations were done. Mastocytosis can affect only the cutaneous sites or involve multiple organs. It is most common in infancy with varied clinical presentations, thus requiring a high index of suspicion with histopathological correlation. Although the prognosis is good, there remains a risk of sudden mast cell degranulation due to triggering agents and subsequent collapse.

Role of nuclear morphometry in diagnosis of salivary gland neoplasms.

BACKGROUND: Fine needle aspiration cytology is an important diagnostic tool in salivary gland cytopathology. However, cytology of salivary gland neoplasms shows diversity with morphological overlap, heterogeneity and subjective variability, posing diagnostic challenge. Nuclear cytomorphometric image analysis turns the subjective criteria into quantitative parameters, which may aid not only in differentiating between benign and malignant tumours but also can aid in categorising challenging cases with morphological overlap. METHODS: A retrospective analysis of Papanicolaou stained fine needle aspirate smears from 50 patients with salivary gland neoplasms, with available follow-up histopathology, was performed. The aspirates were categorised in to three neoplastic categories of Milan system for reporting salivary gland cytology (MSRSGC) that is benign neoplasm, salivary gland neoplasm with uncertain malignant potential, and malignant. The smears were subjected to cytomorphometric image analysis using Image Pro Software (version 10). Each nucleus was analysed for 13 parameters including aspect ratio, intensity, diameter, perimeter, roundness, area, Feret diameter, circularity, radii, Fournier description and chromatin texture characteristics such as margination, heterogeneity and clumpiness. The data obtained was compared through relevant statistical methods. RESULTS: The comparative morphometric data obtained for parameters using ANOVA, for the three categories showed statistically significant P values (<0.001). The post hoc test (Games-Howel) test also showed significant P values (<.001). CONCLUSION: Cytomorphometric image analysis is an important tool in diagnosis of salivary gland neoplasms and can improve the diagnostic accuracy for better treatment and improved prognosis. However, more studies with larger sample size may be needed in future for further affirming its role.

Recurrent angio-fibroma of breast masquerading as phyllodes tumor.

A young Indian female presented with a recurring tumor in the right breast masquerading as phyllodes tumor. Patient had history of five times excision and recurrences of the tumor, diagnosed as fibrous phyllodes of the breast. Presently, a well-circumscribed tumor of about 10 cm size, comprising of benign fibrous-angiomatous tissue with evidence of foci of pyogenic vasculitis was observed. Immuno-histochemical markers for the myo-epithelial and epithelial elements excluded the possibility of fibrous phyllodes, inflammatory myofibroblastic tumor, desmoid fibromatosis, and metaplastic carcinoma. The present findings were diagnostic of an inflammatory angio-fibroma of the right breast, not reported in the earlier literature. The observations indicated that the female breast may be susceptible to spontaneous productive and common-antibiotic-resistant focal septic vascular inflammation giving rise to angio-fibromatous proliferation producing a well-defined tumor mass in the breast, distinguishable from the other breast lesions by the connective tissue stains and immuno-histochemical markers.

Sclerosing stromal tumour of the ovary presenting as precocious puberty: a rare neoplasm.

A 7-year-old Indian girl presented with symptoms of excessive development of breasts, early menarche, growth of pubic hairs, accelerated growth and abdominal distension. On clinical examination, a large right abdominopelvic mass was palpable. MRI revealed a large, heterogeneous, solid and cystic tumour in the right adnexal region, suggestive of an ovarian neoplasm. The hormonal profile showed markedly elevated oestradiol and low follicle-stimulating hormone levels. Clinical diagnosis of precocious puberty with right ovarian mass was concluded. Right-sided salpingo-oophorectomy was performed. Histopathology showed features consistent with sclerosing stromal tumour of the ovary. Postoperatively, signs and symptoms of precocity gradually regressed and her serum oestradiol level came down to normal. This is the first reported case from India.