Epidermoid Cyst: An Esthetic Challenge, If Neglected-A Comprehensive Analysis of 217 Cases.

Background: An epidermoid cyst is a benign keratin-filled cyst, commonly located in the face, scalp, neck, and trunk. Although it is a common benign cystic neoplasm, large series of analyses in English literature are still scarce. To comprehend the clinical and pathological variation of epidermoid cysts in the sub-Himalayan region of India, as well as their clinical implications for late diagnosis, a retrospective study on epidermoid cysts was conducted. Materials and Methods: This was a retrospective observational study conducted on 217 cases of epidermoid cyst subjected for fine-needle aspiration cytology over a period of 3.6 years (from 2018 to 2021). The clinical details and other epidemiological data were archived from the pathology requisition forms. Results: It showed slight male preponderance with head and neck site as the most common area. Most patients were adults. Few uncommon sites were also seen namely breast, parotid, epididymis, and tonsils. Few large lesions were identified measuring up to 10 cm. The skin changes were seen in 5.5% cases, 0.9% cases show extreme ulceration, and 4.1% cases show foreign body giant cell reactions. Due to the province's steep terrain and limited access to medical services, the majority of patients arrived at out patient department (OPD) late. Conclusion: The findings suggest that fine-needle aspiration can be used as a quick diagnostic test even in remote areas by the general practitioner who can send the slides for evaluation to a pathologist. Many times, clinically looking epidermoid cyst can reveal certain challenging entities such as a biphasic fibroepithelial tumor with cystic squamous metaplasia and proliferating pilar tumor in our series. The study of this lesion is also needed for early diagnosis as long-standing lesion may rupture and cause requirement of extensive treatment followed cosmetic impairment.

Clinical and Biochemical Correlation With Cytomorphological Findings of Lymphocytic Thyroiditis: An Experience at a Tertiary Centre in the Himalayan Foothills.

Introduction Lymphocytic thyroiditis is an autoimmune disorder and one of the major causes of hypothyroidism. On cytomorphology, it is characterized by follicular destruction by lymphocytes with elevated biochemical markers, including a panel of autoantibodies against thyroid antigens. This study aimed to determine the prevalence of various cytological features of lymphocytic thyroiditis and their correlation with clinical presentation and biochemical parameters. Materials and methods We conducted a hospital-based cross-sectional study of 105 patients diagnosed with lymphocytic thyroiditis on cytology at our tertiary care center in the Himalayan foothills from December 2018 to December 2019. We recorded and analyzed baseline demographic characteristics, clinical features, and biochemical parameters to assess correlations between cytological findings and grades. Results The study included 105 patients with lymphocytic thyroiditis (90 females, 15 males). The study population age ranged from 11 years to 80 years, with the disease most common in patients aged 21 to 40 years. Grade II was the most common cytological presentation (n=65, 62%). Thyroid-stimulating hormone levels were elevated in 33.3% of cases, and anti-thyroid peroxidase levels were elevated in all 25 cases for whom data were available (p>0.05). Conclusion Cytological diagnosis of lymphocytic thyroiditis was compatible in all cases in the study. However, cytological grading did not correlate with the clinical presentation and biochemical parameters. The diagnosis of lymphocytic thyroiditis could be missed if clinicians use clinical findings and biochemical parameters alone.

The Rare Horse behind the Hoarseness of Voice-Chondrosarcoma of Larynx.

Laryngeal chondrosarcomas are rare tumors. They usually clinically present late as they are slow growing tumors. We reported a case of laryngeal chondrosarcoma in a middle-aged male present with hoarseness of voice along with stridor. The tumor was located in subglottis with destruction of cricoid cartilage. The histopathological evaluation is particularly important as diagnosis and grading needs strict follow up of criteria.

IgA nephropathy superimposed on diabetic nephropathy: A case report with review of literature in eight Indian studies.

Diabetes mellitus is one of the foremost diseases in the modern era and diabetic nephropathy contributes to a major percentage of end-stage kidney disease. Although diabetic nephropathy is difficult to revert back, detection of nondiabetic renal disease (NDRD) is important to detect as most of them are treatable. We describe a case of a 62-year-old female with long-standing diabetes mellitus presenting with massive proteinuria and clinical features of nephrotic syndrome. The kidney biopsy showed class III diabetic nephropathy along with focal proliferative glomerulonephritis with crescent formations. The immunofluorescence study showed strong mesangial IgA deposition with the predominance of lambda stain. This confirmed the diagnosis of diabetic nephropathy with superimposed IgA nephropathy. We reviewed eight Indian studies herewith to demonstrate NDRD spectrum in the Indian diabetic scenario.

Giant cell reparative granuloma of the nasal cavity: a rare site of presentation with review of literature.

Giant cell reparative granuloma (GCRG) was first described in the 1950s. It is an uncommon and benign reactive tumor that is believed to occur after trauma or inflammation. It most commonly occurs in the maxilla and mandible and rarely affects the nasal cavity. It is often seen in children and during the second to third decades of life, predominantly seen among females. Histopathologically, GCRG shows many osteoclast-like multinucleated giant cells scattered in a background of mononuclear stromal cells and spindle-shaped fibroblasts also associated with areas of hemorrhage. The distinction between GCRG and giant cell tumors (GCT)is crucial since both have a similar clinical and histological presentation, but both have different management. GCTs have malignant potential, may metastasize, and have a high rate of recurrence. Surgical excision is the mainstay therapy of GCRG to ensure a low rate of recurrence. Here we discuss two cases GCRG, both presenting as nasal mass.

Pediatric multifocal histiocytic sarcoma- a fatal diagnosis not to miss!

Histiocytic sarcoma (HS) is a rare hematolymphoid malignant neoplasm with an aggressive clinical course. It can arise de novo or from low-grade B-cell lymphoma. We describe the case of a 16-year-old boy referred to our hospital with generalized lymphadenopathy, weight loss, and decreased appetite for one month. The patient died undiagnosed on the 7th day of hospitalization. Lymph node and bone marrow biopsies were performed one day before the patient died. The lymph node biopsy revealed an architectural effacement with a diffuse proliferation of large pleomorphic neoplastic cells containing large, multilobulated nuclei, coarse vesicular chromatin, prominent nucleoli, and a moderate amount of eosinophilic cytoplasm. The bone marrow aspiration smears and biopsy also showed evidence of infiltration by these above-mentioned cells. Based on the morphology, along with the exclusion of many differential diagnoses by an extensive panel of immunohistochemical markers, a diagnosis of HS was made. This case report aims at evaluating all the clinical and immunophenotypic features of a case of HS with multifocal presentation and an aggressive clinical course in order to give a correct and definite diagnosis at the proper time.

Metanephric Adenoma with cystic changes- An uncommon presentation of a rare tumor in a young adult.

Metanephric adenoma (MA) is a rare benign neoplasm of the kidney that is usually asymptomatic and incidentally diagnosed. MA usually present as a solid mass; however, a cystic presentation has been reported. The main differential diagnosis of MA is the epithelial predominant Wilms tumor (e-WT) and the solid variant of papillary renal cell carcinoma (pRCC). The presence of the BRAF gene mutation has recently been reported in 85% of MA, and less than 10% of cases of MA do not express this specific gene mutation. Herein we report a 22-year-old man who presented with back pain and abdominal discomfort with a renal mass on the computed tomographic scan. The diagnosis of metanephric adenoma was confirmed histopathologically. In our case, the tumor presented as a solid and cystic mass hence mimicking a papillary renal cell carcinoma. The VE1 protein, which correlates with BRAF gene mutation, did not show any significant expression. We want to highlight that MA can present as a cystic lesion that should be taken into account to avoid unnecessary radical nephrectomy. Also, we demonstrated that a subset of MA might not harbor the BRAF gene and, they are classified as the BRAF wild type MA.

Down syndrome presenting with different hematological manifestations: A case series of four cases.

Children with Down syndrome (DS) are found to have an increased risk of developing various hematological disorders. Particularly, they have an increased predisposition to acute leukemia, predominantly the myeloid type known as myeloid leukemia of Down syndrome (ML-DS). The major morphological subtype is acute megakaryoblastic leukemia. Approximately 10% of the neonates with DS show a unique disorder known as transient leukemia or transient abnormal myelopoiesis (TAM). Their clinical and morphological features are indistinguishable from acute myeloid leukemia (AML); however, they regress spontaneously within the first few months of life. Here we present a series of four cases with different hematological conditions in children with DS. Of the four cases, two presented with AML-M7, one with TAM, and one case was diagnosed as AML-M2 subtype. This case series highlights the spectrum of hematological disorders in children with DS. Although the majority of the case studies show that TAM and AML-M7 are strongly associated with DS, this case series brings to focus that other AML subtypes may occur as well.

Pediatric multifocal histiocytic sarcoma- a fatal diagnosis not to miss!

Histiocytic sarcoma (HS) is a rare hematolymphoid malignant neoplasm with an aggressive clinical course. It can arise de novo or from low-grade B-cell lymphoma. We describe the case of a 16-year-old boy referred to our hospital with generalized lymphadenopathy, weight loss, and decreased appetite for one month. The patient died undiagnosed on the 7th day of hospitalization. Lymph node and bone marrow biopsies were performed one day before the patient died. The lymph node biopsy revealed an architectural effacement with a diffuse proliferation of large pleomorphic neoplastic cells containing large, multilobulated nuclei, coarse vesicular chromatin, prominent nucleoli, and a moderate amount of eosinophilic cytoplasm. The bone marrow aspiration smears and biopsy also showed evidence of infiltration by these above-mentioned cells. Based on the morphology, along with the exclusion of many differential diagnoses by an extensive panel of immunohistochemical markers, a diagnosis of HS was made. This case report aims at evaluating all the clinical and immunophenotypic features of a case of HS with multifocal presentation and an aggressive clinical course in order to give a correct and definite diagnosis at the proper time.

Giant cell reparative granuloma of the nasal cavity: a rare site of presentation with review of literature

Giant cell reparative granuloma (GCRG) was first described in the 1950s. It is an uncommon and benign reactive tumor that is believed to occur after trauma or inflammation. It most commonly occurs in the maxilla and mandible and rarely affects the nasal cavity. It is often seen in children and during the second to third decades of life, predominantly seen among females. Histopathologically, GCRG shows many osteoclast-like multinucleated giant cells scattered in a background of mononuclear stromal cells and spindle-shaped fibroblasts also associated with areas of hemorrhage. The distinction between GCRG and giant cell tumors (GCT)is crucial since both have a similar clinical and histological presentation, but both have different management. GCTs have malignant potential, may metastasize, and have a high rate of recurrence. Surgical excision is the mainstay therapy of GCRG to ensure a low rate of recurrence. Here we discuss two cases GCRG, both presenting as nasal mass.

Metanephric Adenoma with cystic changes- An uncommon presentation of a rare tumor in a young adult

Metanephric adenoma (MA) is a rare benign neoplasm of the kidney that is usually asymptomatic and incidentally diagnosed. MA usually present as a solid mass; however, a cystic presentation has been reported. The main differential diagnosis of MA is the epithelial predominant Wilms tumor (e-WT) and the solid variant of papillary renal cell carcinoma (pRCC). The presence of the BRAF gene mutation has recently been reported in 85% of MA, and less than 10% of cases of MA do not express this specific gene mutation. Herein we report a 22-year-old man who presented with back pain and abdominal discomfort with a renal mass on the computed tomographic scan. The diagnosis of metanephric adenoma was confirmed histopathologically. In our case, the tumor presented as a solid and cystic mass hence mimicking a papillary renal cell carcinoma. The VE1 protein, which correlates with BRAF gene mutation, did not show any significant expression. We want to highlight that MA can present as a cystic lesion that should be taken into account to avoid unnecessary radical nephrectomy. Also, we demonstrated that a subset of MA might not harbor the BRAF gene and, they are classified as the BRAF wild type MA.

Pediatric Granular Cell Tumor of the Breast: An uncommon neoplasm in an uncommon site and age group

Granular cell tumor (GCT) is a rare soft tissue neoplasm of Schwann cell origin. Most cases occur in adults; however, the precise incidence is unknown in children. GCT is usually a slow-growing, painless tumor involving the skin and soft tissues that is mostly located in the head and neck region, especially the tongue. The breast is one of the least common sites involved by GCT. This paper presents a 3-year-old girl who presented with a soft to firm, ill-defined swelling on the right breast with painful ulceration of the overlying skin. Fine needle aspiration rendered an initial diagnosis of fibrocystic change accompanied by apocrine metaplasia. Histologic evaluation of the excised breast mass revealed a benign granular cell tumor. Although rare, GCT of the breast should be included in the differential diagnosis for breast masses in pediatric patients. Proper diagnosis and timely management of this tumor are essential because of its malignant potential (<2% of cases) and high rate of local recurrence if not properly excised.

Pediatric Granular Cell Tumor of the Breast: An uncommon neoplasm in an uncommon site and age group.

Granular cell tumor (GCT) is a rare soft tissue neoplasm of Schwann cell origin. Most cases occur in adults; however, the precise incidence is unknown in children. GCT is usually a slow-growing, painless tumor involving the skin and soft tissues that is mostly located in the head and neck region, especially the tongue. The breast is one of the least common sites involved by GCT. This paper presents a 3-year-old girl who presented with a soft to firm, ill-defined swelling on the right breast with painful ulceration of the overlying skin. Fine needle aspiration rendered an initial diagnosis of fibrocystic change accompanied by apocrine metaplasia. Histologic evaluation of the excised breast mass revealed a benign granular cell tumor. Although rare, GCT of the breast should be included in the differential diagnosis for breast masses in pediatric patients. Proper diagnosis and timely management of this tumor are essential because of its malignant potential (<2% of cases) and high rate of local recurrence if not properly excised.