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Parathyroid cyst (PC) is an uncommon cause of neck mass and accounts for 0.8- 3.41% of parathyroid lesions. Females are more commonly affected than males (F:M- 2.5:1).1 Nearly 90% of PCs are non-functional, while the remaining are functional and secrete parathormone. Although functional PCs usually manifest cystic degeneration of a parathyroid adenoma, simple functional cysts of the parathyroid gland presenting features of hyperparathyroidism have also been documented.2 PC mainly develops in the inferior parathyroid glands, like the index case. The presentation may vary from asymptomatic neck mass to compressive symptoms such as hoarseness, dysphagia, or dyspnea. On examination, they are palpable as a soft, fluctuant cystic mass that moves with deglutition. Ultrasonogram usually reveals an anechoic thin-walled cyst with posterior enhancement, and computed tomography and magnetic resonance imaging demonstrate the cystic nature of the lesion and its anatomical relationship. Scintigraphy may not help determine the exact location of the cyst. Histopathological examination remains the gold standard for the diagnosis. The best treatment option for both functional and non-functional PC is surgical excision. Other options, such as simple aspiration and percutaneous injection of sclerosing agents, may also be attempted in cases of non-functional PC.3 Figure 1 refers to the case of a 24-year-old young female who presented with an asymptomatic neck swelling that progressively increased over the last 4 months. There were no complaints of dyspnea, dysphagia, palpitation, or symptoms of hypothyroidism. On clinical examination, a 5×4 cm swelling was palpable in the left anterior aspect of the neck. It was smooth with regular, well-defined margins, firm, and non-tender, moving with the deglutition but not with tongue protrusion. No lymphadenopathy was present. Lab investigations revealed normal thyroid hormone profile; triiodothyronine (T3: 0.82 ng/ml; RR: 0.35- 1.93 ng/ml), thyroxine (T4: 9 µg/dl; RR: 4.87-11.729 µg/dl), thyroid stimulating hormone (TSH:1.53 µIU/ml; RR:0.35-4.94 µIU/ml) and parathyroid hormone (PTH: 46.4 pg/ml; RR: 15-65 pg/ml). Contrast-enhancing computed tomography revealed a hypodense, well-defined cystic lesion of 72x46x40 mm on the left side of the thyroid with extra-thyroid extension inferiorly up to the manubrium sternum (Figure 1A). There was no internal calcification or solid component within the cyst. In addition, multiple sub-centimetric cervical lymph nodes in the upper, lower, mid-jugular region and posterior triangle of the neck were identified. Based on the clinical and imaging findings, a benign thyroid cyst was suspected in a euthyroid individual. The cyst’s fine needle aspiration cytology (FNAC) yielded 5 mL of clear fluid containing cholesterol crystals and occasional foamy macrophages in a fluidy background. A complete surgical excision was performed. Intraoperatively, a large cyst was identified arising from the lower pole of the left lobe of the thyroid, extending inferiorly up to the manubrium sternum, laterally up to the common carotid artery, and superiorly up to the hyoid bone. Grossly, the cyst was collapsed, was thin-walled, and had smooth outer and inner surfaces. No attached thyroid gland was identified. The wall showed uniform thickness (0.1-0.3cm). The capsular surface was smooth, and the cyst contained a brownish fluid. Microscopically, the cyst was lined by flat cuboidal to low columnar epithelium. The cyst wall showed discontinuous bands of parathyroid tissue embedded within the fibroconnective tissue (Figure 1B). These cellular foci were composed of lobules and organoid nests of monomorphic cells with central round nuclei, granular chromatin, inconspicuous nucleoli, and clear to pale eosinophilic cytoplasm (Figure 1C). No solid areas or features of adenoma were seen. On immunohistochemistry, these cells were positive for parafibromin (diffuse strong nuclear) (Figure 1D) and synaptophysin (diffuse strong cytoplasmic granular) and were negative for TTF-1, thyroglobulin, and calcitonin, confirming the diagnosis of PC. The right inferior parathyroid was normal. Figure 1 A – CECT image showing hypodense cystic lesion in the left side of neck with extra thyroid extension inferiorly up to the manubrium sternum; B-D – Photomicrographs of the cystic lesion; B – Cyst showing lobules of cells embedded within the collagenous wall underneath the lining epithelium (H&E; 40X); C – Flat cuboidal lining epithelium and aggregates of monomorphic parathyroid cells with optically clear cytoplasm in the cyst wall (H&E; 400X); D – Strong nuclear positivity for Parafibromin immunostain (200X).:

The lymphocyte-depleted classic Hodgkin lymphoma (LDCHL), the rarest subtype of classic Hodgkin lymphoma (CHL), is usually diagnosed at an advanced stage (stage IV) and one that unusually involves the liver, causing a rapidly progressive clinical course. We describe a 40-year-old immunocompromised man presenting with a progressive non-cholestatic jaundice and intermittent fever. The abdominal ultrasonography revealed a nodular liver with coarse echotexture and periportal hypodensities. The thoracic and abdominal contrast-enhanced computed tomography revealed right cervical and paraaortic lymphadenopathy, hepatosplenomegaly, diffuse mural thickening of duodenal and jejunal loops, and bilateral lobulated kidneys. Subsequently, he succumbed to his illness secondary to refractory septic shock. On postmortem examination, he was diagnosed with classic Hodgkin lymphoma (lymphocyte-depleted type) involving paraaortic and mediastinal lymph nodes based on morphology and immunochemistry findings. The lymphomatous process involved the liver (causing multiacinar confluent hepatic necrosis) and spleen, both showing tuberculous foci. This autopsy case depicts an uncommon case of acute liver failure due to infiltration of the liver by LDCHL in an HIV-infected patient. The findings of angiotropism and angioinvasion establish the pathological mechanism of liver failure (hepatocellular necrosis) in such cases.

Fatty acid oxidation defects are a heterogeneous group of disorders related to the mitochondrial fatty acid oxidation pathway. Carnitine acylcarnitine translocase (CACT) is an enzyme responsible for the unidirectional transport of acylcarnitine across the inner mitochondrial membrane. This enzyme plays a crucial role in the oxidation of fatty acids. The autopsy pathology of the CACT deficiency is described in only a few cases. We describe the autopsy pathology of a child with CACT deficiency dominantly in the form of microvesicular steatosis of the hepatocytes, renal proximal tubular epithelia, cardiac myocytes, and rhabdomyocytes. The diagnosis was further confirmed on whole exome sequencing with compound heterozygous variants in the exon 1 (c.82G>T, p.Gly28Cys; likely pathogenic) and exon 5 (c.535G>A, p.Asp179Asn; uncertain significance) of the SLC25A20 gene. This case elucidates the histopathology of the liver and the detailed autopsy of a case of CACT deficiency from India.

Biliary atresia (BA) is a fibro-obliterative cholestatic disease of infancy. The presence of cartilage in the resected tissue is an uncommon finding. We documented the presence of both mature and immature hyaline cartilage in the portal plate and the wall of the gallbladder in a 2-month-old girl infant with BA who had undergone Kasai portoenterostomy. The presence of cartilage could be part of a heterotopia or an uncommon connective tissue metaplasia. The presence of immature cartilage with the merging of the perichondrium with the soft tissue highlights a metaplastic etiology in the index case.

Echinococcosis is a parasitic disease caused by infection with tiny tapeworms of the genus Echinococcus. Echinococcosis is classified as either cystic echinococcosis or alveolar echinococcosis. The common form is a zoonosis from goats and sheep that tends to cause liver lesions. The larval stage of Echinococcus multilocularis causes alveolar echinococcosis/alveolar hydatid disease. It is a zoonosis with field mice and tundra voles as intermediate and wild carnivores like foxes and wolves as definitive hosts. This zoonosis is highly uncommon compared to the other form known as cystic echinococcosis but poses a great human threat if untreated. We report the case of a young man who was working in the Kashmir Valley, North India, and presented with jaundice and right upper quadrant abdominal pain. Computed tomography revealed a large solid-cystic intrahepatic lesion measuring 125x118x123 mm, suggestive of a malignant tumor with central necrosis. A liver biopsy showed necrosis with PAS-positive membranes morphologically consistent with echinococcosis. Alveolar echinococcosis can present as a solid-cystic mass in the liver and can simulate metastatic malignancy.

Biliary adenofibroma (BAF) is an uncommon liver tumor with a high propensity for malignant transformation. The histomorphology of BAF with malignant transformation can show a spectrum of changes ranging from benign, dysplastic to frank malignancy. Thus, the diagnosis of BAF imposes the pursuit of dysplasia/ malignancy focus. We presented a case of intrahepatic cholangiocarcinoma arising from BAF in a 49-year-old woman with detailed histomorphology. We also performed a PubMed database search and tabulated all previously reported cases of BAF with dysplasia/ malignant transformation. A statistic comparison of age, sex ratio, size of the tumor, and survival following complete resection between BAFs with and without dysplasia/ malignancy from the retrieved data is presented. Our analysis did not highlight any statistically significant difference between BAFs with and without dysplasia/ malignancy in age, sex ratio, tumor size, and survival following complete surgical resection. Our study highlights the histopathology and immunohistochemistry of a case of BAF with malignant transformation and highlights the importance of this diagnosis in management. Further longitudinal studies on a larger cohort of patients are required to validate our findings.

Alcoholic foamy degeneration (AFD) is an uncommon presentation of alcoholic liver disease (ALD) with characteristic histologic findings of foamy-looking hepatocytes due to the presence of abundant microvesicles of fat within the cytoplasm predominantly in perivenular and midzonal regions without inflammation and fibrosis. It is underdiagnosed as the patients quickly recover after alcoholic abstinence and are rarely caught on biopsies. AFD has better prognosis than alcoholic hepatitis, and the injury mechanism is different, warranting a different diagnosis. We present an uncommon case of AFD incidentally diagnosed during autopsy in a chronic alcoholic and diabetic man.

Acute erythroid leukemia (AEL) is an exceedingly uncommon but distinct hematological malignancy that shows neoplastic proliferation of erythroid precursors with maturation arrest and no significant myeloblasts. We describe an autopsy case of this rare entity in a 62-year-old man with co-morbidities. He underwent a bone marrow (BM) examination for pancytopenia during the first outpatient department visit, which revealed an increased number of erythroid precursors with dysmegakaryopoiesis suggesting the possibility of Myelodysplastic syndromes (MDS). Thereafter, his cytopenia got worsened, warranting blood and platelet transfusions. Four weeks later on the second BM examination, AEL was diagnosed based on morphology and immunophenotyping. Targeted resequencing for myeloid mutations revealed TP53 and DNMT3A mutations. He was initially managed along febrile neutropenia with the stepwise escalation of antibiotics. He developed hypoxia attributed to anemic heart failure. Subsequently, he had hypotension and respiratory fatigue pre-terminally and succumbed to his Illness. A complete autopsy showed infiltration of various organs by AEL and leukostasis. Besides, there was extramedullary hematopoiesis, arterionephrosclerosis, diabetic nephropathy (ISN-RPS class II), mixed dust pneumoconiosis, and pulmonary arteriopathy. The histomorphology of AEL was challenging, and the differential diagnoses were many. Thus, this case highlights the autopsy pathology of AEL, an uncommon entity with a strict definition, and its relevant differentials.

Phaeohyphomycosis is a term used for a rare opportunistic infection caused by a group of dematiaceous fungi which contains melanin in their cell walls. In 1974, the term phaeohyphomycosis was first coined by Ajello for an entity caused by pigmented fungi.1 Four clinical forms of phaeohyphomycosis exist: i) cutaneous, ii) subcutaneous, iii) systemic, and iv) cerebral. Among these, the subcutaneous form (phaeohyphomycotic cyst) is the most common subtype which usually presents as nodular swelling mainly over the distal extremities, which may be misdiagnosed as epidermal inclusion cyst, ganglion or lipoma. These fungi are present in the soil, where they infect mostly farmers and persons working in fields and farms. It was also highlighted that these infections are seen mostly in immunocompromised individuals and are byproducts of antimicrobial, steroid, and immunosuppressive therapy for various illnesses, including cancer, autoimmune diseases, and transplant cases.1 The pigment giving the characteristic brownish-black appearance to the fungi is melanin, which prevents phagocytosis and hence acts as a virulence factor.2 This group has more than 120 species and 70 genera.3 They have a broad spectrum of clinical manifestations, including superficial and deep fungal infections, sinus involvement, and disseminated forms, including lung and brain abscesses. The incidence ranges from 1-3.1 per 100,000 patients.4 The gold standard method for diagnosis is histopathological examination and culture. Fontana-Masson stain is of immense help in identifying these dematiaceous fungi in tissue as it highlights the melanin pigment in the cell walls. Figure 1 refers to a 59-year-old farmer man who presented with nodular swelling over the dorsum of the left hand for the last 9 months. Initially, the swelling was of peanut size, which gradually progressed to the present size of 5x3x2cm. The lesion was painless, well-defined, and freely mobile. The joint was not affected. He is on medication for type II diabetes mellitus and hypertension. He underwent Whipple's surgery for periampullary carcinoma. He was treated for proximal sensory-motor axonal neuropathy and tuberculosis three years back. Because of isoniazid-induced hepatitis, the patient received a modified anti-tuberculous regime for 9 months, after which he developed gastric ulceration with hematemesis and melena. On endoscopic biopsy, he was found to have chronic active gastritis with Helicobacter pylori infection. In addition, the patient had severe iron deficiency and hypoalbuminemia due to malabsorption. After treatment, he completely recovered at the time of hospital discharge. Figure 1 Phaeohyphomycotic cyst. A - A well-encapsulated and unilocular cyst measuring 4.5x2.2x1.8cm in size (scale bar = 2.5cm); The cyst lumen contains homogenous and translucent gelatinous soft material; B - Multinucleated giant cells showing fungal profile with septate, branching and globose swelling (H&E; x200); C - Periodic Acid-Schiff stain showing bright magenta positivity (PAS stain; x200); D - Fontana Masson stain giving brownish black color due to melanin in the fungal cell walls (x200).: Thus, the nodular swelling was wholly excised and sent for histopathological examination. Grossly, a well-encapsulated mass measuring 4.5x2.2x1.8 cm was submitted for histological analysis (Figure 1A). The external aspect appeared intact, yellowish-white, and congested. A unilocular cyst was identified on serial slicing with a capsular thickness of 0.1-0.2cm. The cut surface was soft in consistency with homogenous and gelatinous translucent material within the lumen. On light microscopy, an outer thick fibrous capsule layer was identified. Just beneath this capsular layer was the vascularized granulation tissue, proliferating fibroblasts, numerous multinucleated foreign and Langhan’s giant cells, and variable lymphoplasmacytic cell infiltrate. Also, abundant basophilic mucoid material with a background of many degenerated cells. These giant cells engulfed pigmented fungal profiles that depicted branching, septate and globose swelling (Figure 1B). Periodic Schiff-Acid stain gave bright magenta color to these fungi (Figure 1C), whereas Fontana Masson stain gave brownish black color due to melanin in the fungal cell walls (Figure 1D). Given the morphology, a diagnosis of a phaeohyphomycotic cyst was rendered. On follow-up, the patient is doing well, and has not received any antifungal agent. The leading treatment choice in non-invasive subcutaneous phaeohyphomycosis is local excision.

Diffuse hepatic hemangiomatosis (DHH) is an uncommon vascular lesion, though hemangiomas are the commonest benign tumors of the liver. The etiology is largely unknown to date; however, its association with giant cavernous hemangiomas (GCH) has been reported in the literature. We present herein, the case of a 37-year-old hypothyroid woman with abdominal fullness for 2 months. The contrast-enhanced computed tomography revealed multiple wellencapsulated lesions involving the liver lobes and was diagnosed as giant cavernous hemangiomas. Most of them, except the deep-seated ones, were enucleated. Histopathological examination highlighted the presence of GCH with irregular margin, replacement of hepatic parenchyma, and presence of multiple micro-hemangiomas suggesting the possibility of DHH further substantiated by retrospective radiological assessment. No extrahepatic vascular lesion was noted, and the post-operative recovery and follow-up were uneventful. Adult DHH is an uncommon entity. The diagnosis of DHH and its distinction from GCH are important from the management and prognostic point of view as recurrence, extrahepatic manifestations, features of consumption coagulopathy, and death from the complications are not uncommon.

Peripheral neuropathy (PN) is characterized by the injury to the peripheral nervous system of varied etiology. Lymphoma is one of the etiologies of PN, presenting various neurological manifestations. Neuropathy associated with peripheral T-cell lymphoma, not otherwise specified (PTCL, NOS) is unusual and fewer cases are documented in the literature. In addition, PTCL, NOS is extremely rare as primary in the female genital tract, especially uterine cervix, and exhibits aggressive clinical course with poor therapy response. We hereby describe a 47-year-old female who presented with fever and chills for 15 days. Clinical examination revealed left-sided lower motor neuron type of facial nerve palsy with Bell’s phenomenon. Nerve conduction study of all four limbs illustrated asymmetrical axonal neuropathy (motor > sensory), suggesting mononeuritis multiplex. She developed vaginal bleeding during her hospital stay. Pelvic examination and imaging revealed a 4x3cm polypoidal mass on the posterior lip of the cervix, which was excised and diagnosed as extranodal primary PTCL, NOS based on morphology, immunohistochemistry, and in-situ hybridization findings. Besides, the cerebrospinal fluid (CSF) was infiltrated by the lymphoma cells, detected on cell block preparation. The patient succumbed to her illness within one week despite best efforts and the commencement of chemotherapy. No consent was obtainable for nerve biopsy and autopsy. Thus, we report an extremely rare case of primary extranodal PTCL, NOS of the uterine cervix with unusual presentation of mononeuritis multiplex. Further, we discussed the differentials of PTCL, NOS at this extranodal site.

We describe an autopsy case of a 45-year-old male diagnosed with autosomal dominant polycystic kidney disease who presented with complaints of altered sensorium. The autopsy revealed multiple tumor-like masses in the liver, which on histological examination depicted multiple large suppurative granulomas with the presence of variable acid-fast coccobacilli (consistent with Brucella spp.). Interestingly, extensive amyloid deposition in multiple organs was noted. To the best of our knowledge, this is the first case of chronic brucellosis causing tumor-like abscesses in the liver accompanied by secondary systemic amyloidosis in a patient with underlying autosomal dominant polycystic kidney disease.

LiposarcomaThe colon is a rare site of occurrence of liposarcoma, as either the primary site or by secondary involvement from a retroperitoneal liposarcoma. Liposarcomatosis denotes simultaneous occurrence of multiple liposarcomas. There are only 17 cases of primary colonic liposarcoma reported in the English literature—one of which was primary colonic liposarcomatosis. We depict the second case of primary colonic liposarcomatosis in a 57-year-old female who presented with abdominal swelling and pain. On exploratory laparotomy, two large masses were seen arising from the wall of the right colon along with multiple smaller masses attached to the colon. Right hemicolectomy with en bloc excision of the masses was performed along with hysterectomy and pelvic floor repair. Macroscopically, multiple exophytic masses and one endophytic mass were identified. The exophytic masses were of variable size and were found to hang from the colon by a thin pedicle simulating variable-sized appendices epiploicae. Histopathologically, the lesions showed the morphology of well-differentiated liposarcoma. This appears to be a case of primary colonic liposarcomatosis. There is only one other similar case reported in the English literature, to the best of our knowledge.