Adult-Onset Neuropsychiatric Symptoms as the Presenting Feature of Xeroderma Pigmentosum Group G: A Report of a Rare Case.

Xeroderma pigmentosum is a rare autosomal recessive disorder resulting in heightened cutaneous photosensitivity due to aberrant DNA repair mechanisms. Early-life developmental delay and cognitive impairment have been described in xeroderma pigmentosum cases. However, psychiatric symptoms in adulthood as the presenting feature of xeroderma pigmentosum have not been reported. We report a young adult with xeroderma pigmentosum group G presenting with prominent neuropsychiatric manifestations and evidence of neurodegeneration. The clinical, laboratory, and radiological findings, skin biopsy, and the results of the genetic testing of the patient have been described after obtaining written and informed consent. A young adult male with skin photosensitivity since infancy developed hyper-religiosity, delusions, suicidal ideations, speech hypernasality, lower limb spasticity, and cognitive impairment over the past four years. The MRI of the brain showed diffuse cerebral atrophy. The skin biopsy from bilateral cheeks showed evidence of flattening and thinning of rete ridges, pigment incontinence, and perivascular and periappendageal inflammatory infiltrate. The whole exome sequencing in ethylenediaminetetraacetic acid (EDTA) blood revealed a compound heterozygous likely pathogenic mutation in intron 13 (c.2880-2A>G (3' splice site)) and a mutation in exon 15 (c.3146del (p.Asp1049ValfsTer12)) in the ERCC5 gene suggestive of xeroderma pigmentosum group G. This case highlights that prominent neuropsychiatric features in adulthood can occur due to xeroderma pigmentosum. Thus, xeroderma pigmentosum group G should be considered as a possibility among young adults presenting with neuropsychiatric features, evidence of neurodegeneration, and early-life skin photosensitivity.

Myxoid liposarcoma diagnosed on fine needle aspiration cytology: There is more to it than meets the eye.

ABSTRACT: Liposarcoma is a rare mesenchymal neoplasm commonly involving deep soft tissues and the retroperitoneum. Among the various types of liposarcoma, myxoid liposarcoma is the most frequently encountered in adolescents and young adults, with a predilection for lower extremities. Fine needle aspiration allows easy assessment and rapid on-site evaluation for distinguishing benign from malignant lipomatous lesions. Here, we present a case of myxoid liposarcoma in the calf region of a 19-year-old boy, diagnosed via fine needle aspiration cytology, and subsequently confirmed by histopathological examination after surgical resection. The intention behind this case report is to highlight the cytological features of myxoid liposarcoma and to improve understanding of this tumor entity, aiming to prevent misdiagnosis by inexperienced pathologists when evaluating cytology specimens.

Benign Lesion of the Common Bile Duct Mimicking a Malignant Tumor: an Entity Commonly Overdiagnosed Clinically.

Adenomyomatous hyperplasia and adenomyoma are rare benign inflammatory pseudotumors of the gallbladder arising from Rokitansky-Aschoff sinuses. Occurrence of these hyperplastic conditions in the Vaterian and biliary system is extremely rare and is a concern for gastroenterologists and surgeons in distinguishing them from primary malignancies of the biliary system. Definitive diagnosis by imaging or cytopathological examination is difficult; thus, surgical resection becomes the only choice in such cases to relieve the obstruction. Here, we report two extremely rare cases of adenomyomatous hyperplasia of the extrahepatic bile duct after an extensive diagnostic workup, followed by Whipple's procedure.

Spontaneous Tumor Lysis Syndrome in a Case of Hepatocellular Carcinoma with Sarcomatoid Differentiation.

Sarcomatoid hepatocellular carcinoma is a rare histologic variant of primary liver cancer comprising of malignant spindle cells and typical hepatocellular carcinoma (HCC). In terms of clinical presentation, they usually exhibit extensive tumor burden due to their larger size and a metastatic disease at the time of diagnosis as compared to conventional HCC. Tumor lysis syndrome is an oncological emergency, usually seen after cytotoxic chemotherapy in haematological malignancies. Here, we highlight a case of 76-year old male with no comorbidities, presenting with an excruciating backache and a paravertebral soft tissue mass and multiple osteolytic lesions, was clinically suspected to be a plasma cell neoplasm. On further evaluation, the patient was diagnosed of a sarcomatoid variant of hepatocellular carcinoma. This report showcases multiple rare findings by the presence of non-specific symptoms, non-cirrhotic liver, normal serum alpha protein levels and the occurrence of a spontaneous tumor lysis syndrome in a solid malignancy.

A nuanced exploration delving into malignant melanomas occurring in unexpected and less common anatomical locations.

Malignant melanoma originates from melanoma cells, which derive from the neuroectoderm of the ectodermal mucosa. The chameleonic presentation of malignant melanoma, its often asymptomatic nature, the rarity of the lesion, the grim prognosis, and the imperative for highly specialized treatment are critical factors that merit careful consideration. Herein, we report a compilation of five cases of malignant melanomas occurring at unusual anatomical locations, which were initially misdiagnosed, which on careful analysis with the use of immuno-histochemical stains were correctly diagnosed as malignant melanoma.

A Case of Medullary Carcinoma of Colon Morphologically Resembling Non-Hodgkin's Lymphoma.

Medullary carcinoma of the colon is an unusual and unique histologic subtype of colorectal cancer. It is strongly associated with microsatellite instability, most commonly loss of MLH1 indicative of deficient mismatch repair proteins. Diagnosis is challenging as they do not display the usual histological pattern. Immunohistochemical staining also shows unusual findings like negativity for CD20 and CDX2. Here, we explore an intriguing case of medullary carcinoma of colon which showed loss of MSH2 and MSH6 and a morphology reminiscent of Non-Hodgkin's lymphoma.

Isolated intracholecystic metastasis of renal cell carcinoma: A report of a rare case.

Renal cell carcinomas are known for their unforeseeable metastatic pattern. They are known to have high metastatic potential, thus commonly associated with synchronous or metachronous metastatic presentation. At the time of diagnosis, approximately one-third of patients present with metastatic disease. We present a case of synchronous metastasis of clear cell carcinoma to the gallbladder in a 54-year-old male within two months after radical nephrectomy.

Disseminated multiloculated peritoneal inclusion cysts: Bubble trouble in belly.

ABSTRACT: Multiloculated peritoneal inclusion cysts, usually arise from peritoneal mesothelium lining the serous cavity of the abdomen, pelvis and retroperitoneum. These lesions can be incidentally found on imaging or during surgery, and confirmation of the diagnosis is done by radiological imaging, histomorphology and immunohistochemical findings. Although fewer than 200 cases of solitary peritoneal inclusion cysts have been reported, their occurrence in a disseminated fashion has hardly ever been described in literature. Herein, we report a case of multiloculated peritoneal inclusion cysts that involved the whole abdominal and pelvic cavity and were successfully treated with surgery.

Neuroendocrine carcinoma of ovary: Hitherto rare entity in primary ovarian tumors.

Neuroendocrine neoplasms (NEN) of the female genital tract are extremely uncommon. These tumors can be broadly divided into well differentiated (carcinoid) and poorly differentiated NEN (small cell and large cell carcinomas). Occurrence of neuroendocrine carcinomas (NECs) in ovary has rarely been reported. These high-grade malignant tumors have a fulminant clinical course with a short period of survival, even when diagnosed at an early stage. We hereby report two cases of primary neuroendocrine carcinoma of the ovary.

Synchronous Malignancies: Pathological Analysis of Three Patients, Each with Dual Malignancies.

Multiple primary malignancies are defined as two or more malignancies arising independently to each other in the same or different anatomical sites, while excluding the possibility of metastasis from the primary malignancy. Here, we present three cases, each with dual malignancies involving different anatomical locations.

Granulomatous Vulvitis: A Rare Case of Chronic Inflammatory Hypertrophy of Vulvar Labia Related to Ulcerative Colitis.

Granulomatous vulvitis (GV) is an idiopathic entity typically presenting with chronic, painless swelling of the genitals with histologic evidence of granulomatous inflammation. Granulomatous vulvitis can typically start as an acute inflammatory condition, which gradually transforms into a chronic disease with a relapsing and remitting course leading to swollen, indurated, and distorted external genitalia. Association of GV with Crohn's disease is being increasingly recognized. However, the association of GV with ulcerative colitis is unreported. Here, we report a rare case of GV in a middle-aged Indian female with characteristic gastrointestinal involvement suggestive of ulcerative colitis. We hope to contribute to an earlier recognition and a better management of the vulvar and gastrointestinal lesions of ulcerative colitis.

Anaplastic (undifferentiated) carcinoma of pancreas, an uncommon variant: Diagnosed on endoscopic-guided fine needle aspiration.

Anaplastic carcinoma of pancreas (ACP) are rare pancreatic neoplasms. They are well known to be associated with more aggressive tumor behavior and less favorable prognosis than usual pancreatic ductal adenocarcinoma. Endoscopic-guided fine needle aspiration (EUS-FNA) is now a widely accepted modality in diagnosis of pancreatic lesions. However, only a few reports are available describing cytological features of anaplastic carcinoma. Here, we report two cases of ACP diagnosed on EUS-FNA.

Gastric Metastasis of Primary Neuroendocrine Tumor of Skin: Rare Tumor with Rare Presentation.

Merkel cell carcinoma (MCC) is a rare primary neuroendocrine tumor of the skin. It has an aggressive biological behavior and shows early local and distant metastasis. Diagnosis of MCC is a challenge and requires confirmation by immunohistochemistry (IHC). However, metastasis of MCC to the stomach is extremely uncommon and is rarely reported in the literature. We hereby describe a patient with gastric metastasis of MCC, who presented with black tarry stool and was finally diagnosed on the basis of clinical history, histology, and IHC.

Amelanotic Melanoma: A Great Masquerader.

Malignant melanoma is an aggressive, notorious tumor showing great variability in morphological and immunohistochemical expression, thus commonly leading to an erroneous diagnosis. Within the melanoma group, amelanotic melanoma, with its wide clinical presentations, lack of pigmentation, and varied histological appearances, has taken on a new persona as a master masquerader. Use of immunohistochemistry in the diagnosis of malignant tumors, including melanoma, is primordial and indispensable. However, the problem gets compounded in scenario of aberrant antigenic expression. The present case posed multiple diagnostic challenges in form of atypical clinical presentation, variant morphology, as well as aberrant antigenic expression. Here, we present the case of a 72-year-old male who, upon his initial presentation, was thought to be sarcomatoid anaplastic plasmacytoma, but 5 months later another biopsy from a different site revealed the actual diagnosis of amelanotic melanoma.

Unusual association of Wilms' tumor with cystic diseases of kidney: A pathologic surprise.

Wilms' tumor (or nephroblastoma) is the most common renal malignancy in the pediatric population which consists of blastemal, epithelial, and stromal elements in variable proportions. The occurrence of renal cysts in children and infants is a rare phenomenon and is possibly an outcome of developmental aberrations in mesonephric blastema. The coincidental association of nephroblastoma with renal cysts is a very rare finding. Here, we describe two cases of Wilms' tumor with an unusual association between glomerulocystic kidney disease and multicystic dysplastic kidney.

Transformation of ameloblastoma to ameloblastic carcinoma in a 10-year-old child.

Ameloblastic carcinoma (AC) is a rare odontogenic malignant epithelial neoplasm of maxillofacial skeleton with a distinct predisposition of the mandible. It can occur in a wide range of age groups, with a sex predilection in males. It can arise either as a de novo lesion or from preexisting ameloblastoma. AC has a high propensity for local recurrence as well as distant metastasis (chiefly lungs), thus requiring an aggressive surgical approach and a strict surveillance. Owing to the rarity of publications describing AC, little is known about this entity in pediatric patients. We report a case of transformation of ameloblastoma into AC in a 10-year-old child.

Cystic Pancreatic Neuroendocrine Tumor: A Diagnostic Dilemma.

Pancreatic neuroendocrine tumors are typically solid neoplasms but in rare instances may present as cystic lesions. Preoperative diagnosis of a cystic pancreatic lesion is challenging and requires a multidisciplinary and multimodal approach. We hereby describe an elderly female who came with complaints of abdominal lump. Radiologically, it appeared to be a pancreatic hydatid cyst located at the head of the pancreas, following which resection was done. Histopathological study of the lesion turned out to be a cystic pancreatic neuroendocrine tumor. Thus, we present this unique case due to its rarity and diagnostic challenge.

Hearts don't lie: Cardiac tuberculosis diagnosed on fine-needle aspiration cytology.

Cardiac involvement in tuberculosis is relatively rare when compared to other organs and often involves the pericardium leading to constrictive pericarditis. Myocardial tuberculoma is exceedingly rare and only seldom cases have yet been reported. Our report is of a case diagnosed on fine-needle aspiration cytology.