Phaeohyphomycotic cyst

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

Adult diffuse hepatic hemangiomatosis

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

Primary colonic liposarcomatosis: report of a case with review of literature

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

Biliary adenofibroma: a precursor lesion of intrahepatic cholangiocarcinoma

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: an unusual presentation of the alcoholic liver disease diagnosed on autopsy

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

Carnitine-acylcarnitine translocase deficiency: a case report with autopsy

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

Chronic brucellosis with hepatic brucelloma and AA amyloidosis in a patient with autosomal dominant polycystic kidney disease

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

Autopsy findings of acute erythroid leukemia

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

Biliary adenofibroma: a precursor lesion of intrahepatic cholangiocarcinoma

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

Acute liver failure caused by lymphocyte-depleted Hodgkin lymphoma in tuberculosis and HIV-infected patient

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