A Novel cause of Massive Hepatosplenomegaly with Fibrosis in two children: Transient Infantile Hypertriglyceridemia.

Background: Transient infantile hypertriglyceridemia (TIH) is a syndrome of hypertriglyceridemia, fatty liver, and deranged liver functions with progression to fibrosis and cirrhosis. It is an autosomal recessive disorder caused by mutations in Glycerol-3-phosphate dehydrogenase 1 gene present on Chromosome 12q12-q13, and has been reported in Israeli Arab families with high consanguinity. TIH is suspected by high serum triglyceride levels and steatosis on liver biopsy; however, diagnosis is confirmed on clinical exome sequencing

Clinical Description: We present two cases of TIH belonging to the indigenous Hindu, hilly population of Himachal Pradesh in North India with no history of either consanguinity or family history.

An Enigmatic Clinical Presentation of Plasma Cell Granuloma of the Oral Cavity.

Plasma cell granuloma is a rare benign lesion characterized by the infiltration of plasma cells; primarily occurring in the lungs. It is also seen to occur in the brain, kidney stomach, heart, and so on but its intraoral occurrence is a rarity. This case report represents one of the uncommon locations in the oral cavity affected by plasma cell granuloma, its clinical and histological features, and establishes the differential diagnosis with other malignant or benign disease entities and planning the treatment accordingly.

Primary apocrine carcinoma of an unusual site.

Primary apocrine carcinoma is a rare malignancy most commonly occurring in apocrine dense areas like axilla. There are only about 200 cases reported to date. We report a case of primary apocrine carcinoma present at an unusual site, that is, the arm.

Intradural Eosinophilic Granuloma Invading Skull: Case Report and Review of the Literature.

Eosinophilic granuloma is a localized form of Langerhans cell histiocytosis, most commonly involving the skeletal system. Their origin from the dura is rare with only a handful of cases on record. We present one such rare case of an eosinophilic granuloma originating from the dura mater with secondary osseous invasion in an 11-year-old female child who presented with a swelling in the right parietal region.

Papillary thyroid carcinoma with nodular fasciitis-like stroma: A rare variant with distinctive morphology.

Papillary thyroid carcinoma (PTC) is a common malignancy with multiple variants, some of which are rarely encountered in routine surgical pathology practice. PTC with exuberant nodular fasciitis-like stroma or PTC with fibromatosis-like stroma is one such variant. This tumor is characterized by an abundant stromal component with an intervening epithelial component with the typical morphologic features of PTC.

Well differentiated neuroendocrine tumor of the kidney: Report of a rare case with review of literature.

Neuroendocrine tumors (NETs) are uncommon tumors that exhibit a wide range of neuroendocrine differentiation and biological behavior. Primary NETs of the kidney, including carcinoid tumor, small cell carcinoma (SCC), and large cell neuroendocrine carcinoma (LCNEC) are exceedingly rare. Renal carcinoids are typically slow-growing tumors and pursue a variable clinical course.

Case 231: Retroperitoneal Adrenal Teratoma Presenting as Trichoptysis.

History A 24-year-old woman from a rural village presented with vague left hypochondrium pain and a cough for the past 2 years. She had a history of occasionally expectorating hairlike strands with her cough. Because the patient was from a rural area, she first consulted with the village priest, as she presumed her illness to be some supernatural phenomenon.

Ganglioneuroma arising from the L5 nerve root: A rare case report.

Ganglioneuroma is a rare, benign, slow-growing, well-differentiated tumor consisting ganglion cells and Schwann cells. Ganglioneuromas originate from neural crest cells and can affect any part of the sympathetic tissue from the skull base to the pelvis. However, ganglioneuroma occurring in the nerve root is extremely rare.

Rhabdoid meningioma lacking malignant features: Report of a rare case with review of literature.

We reported a case of meningioma with rhabdoid morphology but lacking histological features of malignancy in arising from the spinal cord in a 28-year-old male. The tumor showed light microscopic, immunohistochemical evidence of meningothelial differentiation together with diffuse areas exhibiting rhabdoid morphology. The rhabdoid areas were characterized by cells with large cytoplasmic eosinophilic inclusions and eccentric nuclei.

Correlation between cytological and histopathological examination of the endometrium in abnormal uterine bleeding.

Background: Abnormal uterine bleeding (AUB) is a common problem for which women seek gynecological consultation. Endometrial aspiration cytology (EAC) is an acceptable and valuable diagnostic procedure for screening the endometrial status.

Materials And Methods: Endometrial aspiration using a menstrual regulation (MR) syringe and a 4 mm Karman's cannula was performed just prior to D and C in 100 women presenting with AUB.

Acantholytic squamous cell carcinoma of the oral cavity: A rare entity.

Acantholytic squamous cell carcinoma (ASCC) is an uncommon but well-recognized variant of squamous cell carcinoma that was first described by Lever in 1947. ASCC has been reported to originate in the sun-exposed skin of the head and neck and in other sites. However ASCC located in the oral cavity is extremely rare.

Lipoleiomyoma of uterus and lipoma of broad ligament--a rare entity.

Lipoleiomyoma of uterus are a rare variant of uterine leiomyoma. Clinically the symptoms are indistinguishable from an ordinary leiomyoma. It is diagnosed pre-operatively as leiomyoma or mature ovarian teratoma.

Idiopathic renal replacement lipomatosis: a rare renal pseudo tumor.

Renal replacement lipomatosis (RRL) is a rare condition that occurs as an end result of renal atrophy or destruction of renal parenchyma by excessive lipomatous tissue in renal sinus and perinephric space. We report a case of RRL presenting as a right renal mass clinically. Intra-venous pyelography and renal scan revealed a left non-functioning kidney.

Primary mucosal malignant melanoma of nasopharynx: a rare case report.

Mucosal malignant melanoma (MMM) of the nasopharynx is extremely rare. We report a case of MMM of the nasopharynx in a 56-year-old male patient presenting with a polypoidal mass in the nasopharynx. It was increasing gradually and obstructing breathing.

Multilocular cystic renal cell carcinoma: a rare entity with review of literature.

Multilocular cystic renal cell carcinoma (MCRCC) represents a rare variant of clear cell renal cell carcinoma (RCC). MCRCC has been recognized as a separate subtype of RCC in the 2004 World Health Organization (WHO) classification of adult renal tumors. MCRCC is diagnosed on the basis of strict histological criteria according to 2004 WHO classification.