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Autopsy and Case Reports, Volume: 12, Published: 2022
  • Fatal adult-onset diaphragmatic hernia in the context of the COVID-19 pandemic Autopsy Case Report And Review

    Antony, Ajith; Suares, Sheryl; Fernandes, André Victor

    Abstract in English:

    ABSTRACT Late-presenting or “Adult-Onset” Diaphragmatic Hernia is uncommon, especially in individuals with no history of trauma. The non-traumatic diaphragmatic hernia may be a Congenital Diaphragmatic Hernia [CDH] lately manifested as a sequela to an iatrogenic intervention or prolonged infections. We aim to explore the genetic correlations in “adult-onset” CDH, with an insight into the indirect contribution of the COVID-19 pandemic towards the fatal outcome.In this report, we present a case of an adult female who died from the complications of an undiagnosed adult-onset diaphragmatic hernia, deemed completely preventable, if not for the global COVID-19 pandemic. There was no prior history of physical trauma or medical history of any relevance.Early diagnosis and rapid surgical intervention remain the keystone management for successfully treating individuals affected by this entity. The decedent in question presented with symptoms demanding hospital stay for investigations that would have aided in timely diagnosis and prevented death. However, the excessive fear of COVID-19 prevented the patient from undergoing hospitalization and follow-up, delaying the diagnosis and leading to death.
  • Herpes simplex virus-1 triggered hemophagocytic lymphohistiocytosis in a patient with granulomatosis with polyangiitis Autopsy Case Report

    States, Vanessa A.; Kapp, Meghan E.

    Abstract in English:

    ABSTRACT Hemophagocytic lymphohistiocytosis (HLH) is a rare, aggressive hyperinflammatory syndrome in which an inciting event triggers massive, uninhibited activation of T lymphocytes and macrophages. Although viral infections are the most common trigger of HLH, cases of HSV-1 induced HLH are rare in adults. We present the case and postmortem findings of a 27-year-old woman diagnosed with HLH in the setting of immunosuppression for the treatment of granulomatosis with polyangiitis (GPA). Autopsy revealed evidence of herpes simplex virus-1 (HSV-1) infection and no findings suggestive of GPA recurrence.
  • Complexities and complications of extreme obesity Autopsy Case Report And Review

    Ali, Haval; Naik, Udit; McDonald, Michelle; Almosa, Mohammad; Horn, Karen; Staines, Alexis; Buja, Louis Maximilian

    Abstract in English:

    ABSTRACT Obesity is a common chronic disorder and has detrimental long-term consequences if left untreated. Herein, we report a case of a young lady who suffered from morbid obesity and many of its consequences, and we present a literature review of these complications. While the cause of obesity is multifactorial, the genetic component is particularly important in the pathophysiology of marked obesity. Resistance to Leptin is considered one of the main causes of obesity. There is a unique relationship between polycystic ovary syndrome and obesity, as observed in our case. Obesity is associated with cardiovascular and lung diseases such as heart failure, thromboembolic disease, sleep apnea, and pulmonary hypertension. Our patient had cardiomegaly (730 gm) with eccentric hypertrophy of left and right ventricles. The coronary arteries and aorta were free of atherosclerosis, which is a surprising finding that relates to the mysterious phenomenon of obesity paradox. The terminal event in our young woman was multiple segmental and subsegmental pulmonary arterial thrombi/thromboemboli superimposed on chronic cardiopulmonary stress due to massive obesity.
  • Dual pathogen valvular endocarditis in a case of severe aortic aneurysm Autopsy Case Report

    Yadav, Meghna; Tewari, Rohit; Chatterjee, Tathagata

    Abstract in English:

    ABSTRACT Infective endocarditis (IE) is the heart valve or endocardium infection. We report a rare case of polymicrobial endocarditis, namely invasive Aspergillus spp and Acinetobacter baumannii, in a 36-year-old male with a medical history of degenerative disease of the aorta with abdominal aortic and ascending aortic aneurysms with a fulminant clinical course and fatal outcome. The treatment was challenging due to multiple comorbidities. The autopsy revealed dual pathogen endocarditis due to Acinetobacter baumannii sepsis and invasive Aspergillus spp mycosis. This report emphasizes that polymicrobial endocarditis (PE) is an infrequent finding with a poor prognosis requiring high clinical suspicion.
  • Cytomegalovirus pneumonia presenting as pulmonary nodules Autopsy Case Report

    Basinger, Janet; Kapp, Meghan E.

    Abstract in English:

    Abstract Cytomegalovirus (CMV) pneumonia is a well-known cause of morbidity and mortality in patients with a history of allogenic hematopoietic stem cell transplant. Radiographically, CMV pneumonia most commonly presents as bilateral ground glass opacities; however, the presentation is non-specific and can be variable, including presenting as areas of air-space consolidation or pulmonary nodules. We report a case of a 70-year-old man who presented with rapidly progressive bilateral pulmonary nodules approximately two months after receiving a bone marrow transplant. No infectious etiology was identified for the pulmonary nodules, and a bronchoscopy was unable to be performed due to a rapid decline in the patient’s overall condition and respiratory status. The patient died shortly after the decision was made to transition to palliative care and a limited autopsy was performed to explore the pulmonary findings. Corresponding to premortem imaging were the postmortem gross findings of numerous bilateral pulmonary nodules and a large mass-like area of consolidation in the right upper lobe. Microscopic examination of the nodules demonstrated a necrotizing pneumonia with few foci of viral cytopathologic change consistent with CMV, which was confirmed by immunohistochemistry. While CMV is a common infectious agent in the immunocompromised population, CMV pneumonia continues to be a challenging entity due to difficulty in diagnosis and treatment. Rapidly enlarging pulmonary nodules in an immunosuppressed patient is highly suggestive of an infectious process and careful histologic examination for viral cytopathologic change is essential.
  • Embryonal tumor with multilayered rosettes in a teenager Autopsy Case Report

    Ulzen-Appiah, Kofi; Akakpo, Kafui Patrick

    Abstract in English:

    ABSTRACT Background Embryonal tumor with multilayered rosettes (ETMR), NOS/C19MC- altered, is a rare and recently classified highly aggressive malignant brain tumor in the 2021 World Health Organization (WHO) classification of tumors of the central nervous system 5th edition. They are mostly diagnosed in children before the age of three years. Most of them are located in the supratentorial region. Prior to the reclassification of ETMR as a single entity, three distinct tumors, namely, embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL) were recognized. Recent studies showed that all the three entities have multilayered rosettes on morphology, sharing a common amplification of the C19MC locus at the chromosome 19q13.42 by fluorescence in situ hybridization, and highly specific immunohistochemical staining for LIN28A rendered their reclassification as a single entity. Report: A 13-year-old girl was rushed to the emergency room unconscious, with no return of spontaneous circulation after cardiopulmonary resuscitation. Autopsy revealed a left cerebellar hemisphere hemorrhagic tumor which histopathological examination revealed a multilayered ependymoblastic rosettes with abundant neuropil. The multilayered rosettes showed reactivity for vimentin but non-reactivity for pan-cytokeratin, the zones with abundant neuropil were reactive for synaptophysin consistent with a diagnosis of embryonal tumor with abundant neuropil and true rosettes now ETMR, NOS (WHO Grade 4) due to the lack of genetic testing for amplification of C19MC. Conclusion: ETMR is a highly aggressive CNS embryonal tumor with extremely poor prognosis. It should be considered in the differential diagnosis of pediatric brain tumors. Multilayered rosettes are a useful clue to histologic diagnosis.
  • Hypoxic hepatitis as a complication of newly diagnosed type 1 diabetes in a teenager Autopsy Case Report

    Buczkowski, Kamil; Ożóg-Zabolska, Irena; Gulczyński, Jacek; Iżycka-Świeszewska, Ewa

    Abstract in English:

    ABSTRACT Hypoxic hepatitis is a rare complication of type 1 diabetes with unknown prevalence in Pediatrics. We present a case report of an 11-year-old boy admitted to the ER in the spring of 2020 (the beginning of the COVID19 pandemic in Poland) due to nausea, abdominal pain, and weight loss. A diagnosis of type 1 diabetes accompanied by severe ketoacidosis (pH 6.9, blood glucose 632mg/dl, ketone bodies in urine – 150mg/dl) was made. The hyperglycemia, ketoacidosis, and water-electrolyte disturbances were treated in the Pediatric Intensive Care Unit. On day 4, the boy developed fulminant septic shock with high aminotransferases (AST 9026 U/l, ALT 3559 U/l). CT scan revealed hepatic enlargement and steatosis. Acute viral hepatitis was suspected. The levels of anti-CMV IgM and IgG antibodies were slightly elevated. At autopsy, the liver was enlarged, with petechial bleedings on the surface. The liver parenchyma was congested, with signs of steatosis. Microscopically, there was extensive centrilobular necrosis, acute passive sinusoidal congestion, and steatosis of hepatocytes. There were no signs of CMV infection. Based on the entire clinicopathological picture, the patient was diagnosed with hypoxic hepatitis, complicated by septic shock and multiple organ failure.
  • Sudden death of an egg donor during oocyte retrieval due to ovarian hyperstimulation syndrome Autopsy Case Report

    Tyagi, Swati; Mridha, Asit Ranjan; Behera, Chittaranjan

    Abstract in English:

    ABSTRACT Ovarian Hyperstimulation Syndrome (OHSS) is uncommon among oocyte donors during in vitro fertilization (IVF) procedure and is rarely associated with death. We report a case of a 23-year-old oocyte donor who suddenly died on the operation table during oocyte retrieval. She had no risk factors in her menstrual history, laboratory, or clinical parameters. The antagonist cycle, triggered with the GnRH agonist protocol, was carried out. The cause of death at autopsy was attributed to respiratory failure due to acute massive pulmonary edema, which developed due to the complication of OHSS. Only a few autopsy cases associated with OHSS have been published, but, as far as we know, no clinical or autopsy cases of sudden death caused by OHSS have been reported.
  • Congenital Rubella Syndrome as a possible cause for persistent thrombocytopenia in early infancy: The Forgotten Culprit Autopsy Case Report

    Kumar, Jogender; Sundaram, Venkataseshan; Gupta, Kirti; Bhatia, Anmol; Kaur, Gurwinder; Dutta, Sourabh

    Abstract in English:

    Abstract We present a case of a late preterm intrauterine growth-restricted neonate with isolated and persistent severe thrombocytopenia. At birth, the neonate did not have a complete clinical spectrum of congenital rubella syndrome (CRS) but later developed peculiar findings that helped clinch the diagnosis. The neonate also had interstitial pneumonia and died secondary to superimposed acute viral infection leading to acute respiratory distress syndrome. The serology was positive for IgM antibodies against the rubella virus. The constellation of clinical manifestations of congenital rubella in the presence of positive IgM antibody against rubella and consistent histopathology confirmed the diagnosis of CRS.
  • Vertebrobasilar circulation hemorrhages in childhood primary angiitis of the central nervous system Autopsy Case Report

    Hassan, Ahmad; Allinson, Kieren

    Abstract in English:

    ABSTRACT Childhood primary angiitis of the CNS (cPACNS) is a poorly understood, rare, and diagnostically challenging neurologic disease. We describe an unusual and autopsy-confirmed case of cPACNS presenting as vertebrobasilar circulation hemorrhagic strokes in a 4-year-old girl. The presentation and clinical features were inconsistent with primary CNS vasculitis and skewed the diagnosis. Autopsy and histopathological analyses revealed a progressive lymphocytic vasculitis affecting the medium to large vessels of vertebrobasilar circulation and sparing the anterior circulation. It is imperative to raise the index of suspicion for cPACNS in any case of unusual or unexplained neurological presentation, especially in the absence of cerebrovascular risk factors and/or coagulation disorders.
  • Rickettsia conorii infection with fatal complication Autopsy Case Report

    Chugh, Sanjoli; Kumari, Priyanka; Goel, Shriya; Biswal, Manisha; Sehgal, Inderpaul Singh; Sekar, Aravind

    Abstract in English:

    ABSTRACT Rickettsial diseases (RD) are a group of endotheliotropic infectious diseases caused by different species of genera Rickettsia. RD are not an uncommon disease and may be misdiagnosed during the evaluation of acute febrile illness due to a lack of reliable serological marker and diagnostic culture methods. Clinical manifestation of RD varies from febrile illness with rashes and myalgia to fatal complications such as shock and respiratory failure. We describe a case of a young male who presented initially with acute febrile illness, followed by shock and respiratory failure, and unfortunately succumbed to death. A post-mortem examination showed histological features of endotheliotropic infection, such as interstitial / perivascular edema in various organs and noncardiogenic pulmonary edema (suggesting increased vascular permeability) and evidence of vasculitis in the lung, liver, and intestines. Molecular studies performed from lung, liver, and kidney tissue confirm the diagnosis of spotted fever group rickettsial disease due to Rickettsia conorii.
  • Sudden death associated with lipoma of the cerebellopontine angle Autopsy Case Report

    Tambuzzi, Stefano; Gentile, Guendalina; Boracchi, Michele; Migliorini, Arnaldo

    Abstract in English:

    ABSTRACT Intracranial lipomas are rare benign tumors considered exceptional when localized in the cerebellopontine angle (CPA), with an incidence of 0.1% of the total number of expansive processes located in this area. We present a case of the sudden death of a 26-year-old young woman in which an unencapsulated neoformation of 0.8 cm was documented at the right cerebellopontine angle and was histologically characterized as intracranial lipoma. The cause of death was then identified as a cardiocirculatory failure secondary to supratentorial (uncal right) herniation caused by the lipoma of the pontocerebellar angle with high-grade diffuse cerebral edema.
  • Oblivion: autopsy findings of a 31-year-old man with sudden cardiac arrest, a case report of a sequalae of Kawasaki disease Autopsy Case Report

    Gallego, Daniel Fernando; Ruiz, Maria Eugenia Zuluaga; Marshall, Desiree Ann

    Abstract in English:

    ABSTRACT A 31-year-old man presented to the hospital after suffering a sudden cardiac arrest. Despite optimal therapy, the patient passed away. His medical history included febrile rash at age 2. At autopsy, there was aneurysmal dilation and severe coronary artery stenosis by atherosclerotic plaques and myocardial fibrosis. These findings were presumed to be due to complications of Kawasaki disease, given the remote history of severe febrile rash as a toddler and the presence of chronic coronary artery injury, recanalization, and thrombosis with ischemic heart disease leading to sudden cardiac collapse and death.
  • Solid papillary carcinoma of the breast Clinical Case Report And Review

    Jadhav, Toyaja; Prasad, Shashi Shekhar; Guleria, Bhupesh; Tevatia, Manvir Singh; Guleria, Prerna

    Abstract in English:

    ABSTRACT Solid Papillary Carcinoma (SPC) of the breast is a rare tumor with an incidence of less than 1%, mainly affecting elderly females. It is morphologically characterized by well-defined nodules with low-grade nuclear features associated with fibrovascular cores and shows neuroendocrine differentiation. SPC can be in-situ or invasive but has a favorable prognosis. It is a morphological mimicker of some pre-malignant conditions leading to its frequent misdiagnosis. An appropriate immunohistochemical (IHC) panel workup helps in distinguishing this tumor from its various morphological mimics. In this report, we present one such case of SPC with a small focus of invasion, reviewing the literature.
  • Pleomorphic hyalinizing angiectatic tumor of the vulva: literature review based on a rare presentation Clinical Case Report And Review

    Silva, Eveline Cristina da; Abreu, Rodrigo Fonseca; Nascimento, Antônio Geraldo; Andrade, Louise De Brot

    Abstract in English:

    ABSTRACT Pleomorphic hyalinizing angiectatic tumor (PHAT) of soft tissues is a rare, non-metastatic tumor of unknown etiology and uncertain behavior, which may recur locally. There are few reports on this condition, and due to the rarity of the disease, its lineage has not yet been fully elucidated. The present study aims to report the case of an unusual entity observed for the first time in vulval topography. A female patient, 83 years old, presented with a tumor in the vulvar region that had evolved for approximately 4 months. Magnetic resonance imaging showed an expansive perineal formation of 8.5 × 3.5 cm, and a hemivulvectomy with a flap rotation was performed. The review of the slides revealed a mesenchymal lesion without significant atypia, which was richly vascularized. In the areas of interest, the immunohistochemical (IHC) study demonstrated positivity for CD34, estrogen, and progesterone receptors; it was negative for the other tested markers. Morphological findings associated with the IHC staining panel supported the diagnosis of PHAT. The main morphological features of PHAT are clusters of ectatic vessels of different sizes that show deposits of subendothelial and intraluminal fibrin. Fusiform and pleomorphic cells randomly arranged in leaves or long fascicles intermingle these vessels. It is essential to recognize this entity and consider it among the differential diagnoses of a mesenchymal lesion, given the wide variety of entities that comprise this group of lesions.
  • Primary retroperitoneal extraovarian granulosa cell tumor Clinical Case Report And Review

    Sharma, Pragya; Singh, Vikram; Mishra, Niharika; Gopinath, Manoj; Gupta, Prashant

    Abstract in English:

    ABSTRACT Extraovarian granulosa cell tumors (GCTs) develop from ectopic gonadal tissue situated along the embryonal route of the genital ridge. Primary retroperitoneal tumors are extremely rare, with an incidence of 02% -06% and 80-85% probability of malignancy. Only eight such case reports have been published previously. We herein, report a rare case of extraovarian retroperitoneal GCT in a 55-year-old woman who presented with intermittent left lumbar region pain of one-year duration. She had a history of hysterectomy and bilateral salpingo-oophorectomy 8 years ago for uterine leiomyoma. Laparotomy revealed a retroperitoneal mass measuring 8cm x 10cm x 20cm in size, solid cystic with areas of necrosis and hemorrhage. The gross features, classical histopathology, and positive immunostaining of the retroperitoneal mass with inhibin, calretinin, PR, WT1 and immunonegativity for EMA were characteristic of adult-type GCT. Excluding any previous history of primary ovarian GCT in this patient, a de-novo retroperitoneal diagnosis was established.
  • Pindborg tumor associated with a supernumerary tooth: a case report Clinical Case Report And Review

    Morais, Hannah Gil de Farias; Silva, Weslay Rodrigues da; Andrade, Ana Cláudia de Macêdo; Silva, Nelmara Sousa e; Xerez, Mariana Carvalho; Santos, José Wittor de Macêdo; Germano, Adriano Rocha; Costa, Antônio de Lisboa Lopes

    Abstract in English:

    ABSTRACT The calcifying epithelial odontogenic tumor is a rare benign neoplasm that accounts for approximately 1% of all odontogenic tumors. Most of the cases occur in the posterior mandible, and a few involve the maxilla. Despite their relatively indolent biological behavior, tumors in the maxilla tend to grow fast. We report the case of a 33-year-old female patient exhibiting swelling in the right maxilla. An isodense area associated with an impacted supernumerary tooth was found on imaging examination. The histopathologic diagnosis was a calcifying epithelial odontogenic tumor. The treatment of choice was surgical removal of the lesion and associated dental elements. The patient has been followed up for 11 months and shows no signs of recurrence. Besides describing this case, we reviewed the literature on the association of calcifying epithelial odontogenic tumors with supernumerary teeth and found two case reports addressing this subject.
  • Verruciform xanthoma associated with lichen planus Clinical Case Report And Review

    Medeiros, Cristianne Kalinne Santos; França, Glória Maria de; Silva, Weslay Rodrigues da; Felipe Júnior, Joaquim; Galvão, Hébel Cavalcanti; Oliveira, Patrícia Teixeira de

    Abstract in English:

    Abstract Verruciform xanthoma (VX) is a rare benign lesion of unknown etiology, with a rough or papillary aspect, painless, sessile, well-defined, most lesions do not exceed 2 cm in their largest diameter, the degree of keratinization of the surface influences color, varying white to red, affecting mainly the gingiva and alveolar mucosa, and can also be seen in skin and genital. Herein, we present a report a clinical case of oral verruciform xanthoma in the buccal mucosa associated with the lichen planus lesion, as well as the morphological and immunohistochemical characteristics of the lesion. The clinical diagnostic hypothesis of oral lichen planus of the white reticular lesions on the buccal mucosa and on the tongue was confirmed by histopathology before a subepithelial connective tissue exhibiting intense inflammatory infiltrate in a predominantly lymphocytic band. In contrast, the hypothesis of the verrucous lesion in the left buccal mucosa was leukoplakia, with histopathological evidence showing exophytic and digitiform proliferations with parakeratin plugs between the papillary projections. Subepithelial connective tissue was characterized by macrophages with foamy cytoplasm (xanthoma cells). An immunohistochemical examination was performed, showing positivity for CD68, a macrophage marker, in addition to testing by Schiff's periodic acid (PAS) with diastasis, which was detected the presence of lipids inside these macrophages. The patient is free of recurrences of verruciform xanthoma and is being monitored due to the presence of lesions of oral lichen planus.
  • Cervical Thymic Cyst with parathyroid tissue – a diagnostic conundrum Clinical Case Report And Review

    Gupta, Deepika; Kaushal, Darwin; Vedant, Deepak; Sharma, Rashim; Vishwajeet, Vikarn; Elhence, Poonam Abhay

    Abstract in English:

    ABSTRACT Cervical thymic cysts are relatively rare benign cystic lesions that tend to be diagnosed clinically as branchial cysts, which usually present as painless, enlarging neck masses. They can occur anywhere along the normal path of descent of thymic primordia from the angle of the mandible to the sternal notch, with mediastinal extension observed in approximately 50% of cases. They are usually seen in the first decade of life on the left side with a male predominance. Here we report a case of a 15-year-old boy who presented to the hospital with left-sided neck swelling for about 2 months. The neck’s contrast-enhanced computed tomography (CECT) revealed a large, well-defined cystic swelling in the left neck region, showing peripheral enhancement, seen from the submandibular region to the superior mediastinum extending into the retrosternal region. Direct fine needle aspiration (FNA) was done, which showed a benign lesion with inflammatory and cystic characteristics, leading to the possibility of a branchial cyst. The cyst was completely excised surgically. Histopathology showed a thymic cyst with parathyroid tissue. The presence of thymic tissue with Hassall’s corpuscles is essential for the diagnosis. Knowledge of the clinical presentation, cyto-histological findings, and differential diagnosis of cystic cervical lesions in the pediatric population is important to diagnose this rare entity. Hence, though uncommon, when one comes across a cystic cervical region mass in children, a diagnosis of cervical thymic cyst should be kept in mind. Nonetheless, a definitive diagnosis depends on imaging findings as well as intraoperative findings and histopathological examination.
  • Papillary cystadenocarcinoma of the parotid gland: a rare sub-variant of salivary gland adenocarcinoma Clinical Case Report And Review

    Dutta, Satya; Dey, Biswajit; Mishra, Jaya; Raphael, Vandana; Das, Jonali; Lynser, Donboklang

    Abstract in English:

    AbstractPapillary cystadenocarcinoma of the salivary gland is a very rare malignant neoplasm accounting for only 2% of all salivary gland lesions. In 1991 it was first included as a separate entity in the World Health Organization (WHO) classification of salivary gland tumors and in 2017 WHO Classification, the tumor was clubbed as a sub-variant of adenocarcinoma, not otherwise specified. It most commonly occurs in the major salivary glands. Herein we report a case of salivary papillary cystadenocarcinoma in a 54-year-old female, who presented with rapid enlargement of the right parotid swelling. Based on radiology and fine-needle aspiration cytology, a working diagnosis of the malignant tumor involving the superficial lobe of the right parotid gland was made. In view of the malignant nature of the swelling, superficial parotidectomy was done. The histopathology and immunohistochemistry of the mass confirmed the diagnosis of papillary cystadenocarcinoma of the right parotid. With the revised 2017 WHO classification of salivary gland tumors, it is important to report all rare subtypes in order to understand their biology and behavior.
  • Jaw osteosarcoma and pregnancy: a rare coexistence Clinical Case Report And Review

    Santos, Thaís Aguiar; Américo, Márcia Gimenes; Priante, Antonio Vitor Martins; Oliveira, Maria Fernanda de; Anbinder, Ana Lia

    Abstract in English:

    ABSTRACT Osteosarcoma of the jaw represents less than 1% of all head and neck malignancies. This malignancy in pregnant women occurs in one per 1000 deliveries. We report a case of a 29-year-old woman, in the 33rd week of gestation, who presented with an expansive tumor destroying the maxillary alveolar bone, histologically composed of pleomorphic, round, spindle, or epithelioid cells and osteoid/chondroid matrix. Upon final diagnosis of osteosarcoma, the lesion was excised. To the best of our knowledge, only 10 cases of jaw osteosarcoma in pregnant women have been reported to date in the English language literature. The use of ancillary examinations, malignancy diagnosis, and cancer treatment can be challenging during pregnancy. Knowledge about jaw osteosarcoma in pregnancy can increase healthcare providers’ awareness, avoid delays and misdiagnosis and potentially improve maternal and neonatal outcomes.
  • Myoid differentiation in dermatofibrosarcoma protuberans and its fibrosarcomatous variant: 10 years’ experience in a tertiary hospital Clinical Case Report And Review

    Lo, Chun-hai; Tsang, Po-man; Cheng, Shui-ying

    Abstract in English:

    ABSTRACT Dermatofibrosarcoma protuberans (DFSP) is a relatively rare, locally aggressive, and dermal-based fibroblastic tumor. There are several histological variants, in which the usual emphasis is on fibrosarcomatous DFSP, as it acquires metastatic potential. Myoid differentiation in DFSP is rare, and more often found in fibrosarcomatous DFSP. Myoid differentiation is defined as tumor cells with brightly eosinophilic cytoplasm, well-defined cytoplasmic margins, and vesicular nuclei. In this study, we aim at characterizing the immunostaining pattern regarding myoid differentiation in DFSP, and discuss the potential pitfall in making the diagnosis. A total of ten cases of DFSP were found in the past ten years in our hospital. Two of them show focal myoid differentiation, including the only case of fibrosarcomatous DFSP. Around 5% of the tumor area in the traditional DFSP case shows myoid differentiation, while around 10% of the tumor area in fibrosarcomatous DFSP shows myoid differentiation. The myoid areas show positive staining, albeit patchy to focal, for smooth muscle markers, including smooth muscle actin, muscle-specific actin, caldesmon, and calponin. Staining for CD34, in those areas, is weak or negative. This may create diagnostic difficulty with smooth muscle tumors or myofibroblastic lesions, especially in a small biopsy sample. In difficult cases, the detection of COL1A1-PDGFB fusion by fluorescence in situ hybridization is helpful, as this is a characteristic chromosomal translocation found in the large majority of DFSP.
  • Epidermoid cyst in an intrapancreatic accessory spleen with abnormally high CEA level in cyst fluid: a case report Clinical Case Report And Review

    Lo, Chun-hai; Tsang, Po-man; Cheng, Shui-ying; Ling, Cheuk-nam; Ho, Cheuk-lam

    Abstract in English:

    ABSTRACT Epidermoid cyst in an intrapancreatic accessory spleen is a rare benign lesion that is difficult to diagnose preoperatively. Cyst fluid analysis for biochemistry markers has been widely used to aid the diagnosis of pancreatic cysts. A high cyst fluid carcinoembryonic antigen (CEA) level (>800 ng/mL) is said to be useful in distinguishing intraductal papillary mucinous neoplasm (IPMN) and mucinous cystic neoplasm (MCN) from other non-mucinous cysts. We herein report a case of epidermoid cyst in an intrapancreatic accessory spleen with abnormally high CEA level (3582 ng/mL) in the cyst fluid, suggesting a potential pitfall in using cyst fluid CEA level as an indicator of mucinous neoplasms.
  • Sebaceous breast carcinoma Clinical Case Report And Review

    Alencar, Natália Nobre de; Souza, Diego Agra de; Lourenço, Alexandre Alves; Silva, Raimunda Ribeiro da

    Abstract in English:

    ABSTRACT Breast sebaceous carcinoma is one of the rarest breast neoplasms, with less than 30 cases reported worldwide. Due to the rarity, the new WHO classification of breast tumors grouped these tumors among the ductal carcinoma. A detailed description of these cases is relevant due to the insufficient knowledge about the prognosis of this neoplasm. We report the clinical, histological, and immunohistochemical characteristics of a case of sebaceous carcinoma of the breast in an 81-year-old woman with a right breast nodule. The tumor was composed of nests of a varying mixture of sebaceous cells with abundant slightly vacuolated cytoplasm, surrounded by smaller oval-to-fusiform cells with eosinophilic cytoplasm without vacuolization. No lymph node metastases were present. The immunohistochemical reactions were positive for GATA3, EMA, CD15, and GCDFP15 (focal staining), and negative for RE, RP, and HER-2. The tumor was classified as triple-negative. Morphologically, the differential diagnoses included skin sebaceous carcinoma, lipid-rich carcinoma, apocrine carcinoma, and glycogen-rich clear cell carcinoma. Most of the previously reported cases were positive for RE and RP, which generally was associated with a better prognosis. However, some cases presented a more aggressive behavior with distant and lymph node metastases.
  • Invasive cystic hypersecretory carcinoma of the breast Clinical Case Report And Review

    Chitti, Srilata; Misra, Sunayana; Ahuja, Arvind; Gupta, Nikhil; Yelamanchi, Raghav

    Abstract in English:

    ABSTRACT Cystic hypersecretory carcinoma (CHC) of the breast is a rare variant of ductal carcinoma, characterized by variably sized cysts lined by micropapillary fronds to proliferative pseudostratified columnar epithelium. It includes a spectrum of morphological features ranging from clearly benign cystic hypersecretory hyperplasia (CHH), CHH with atypia to invasive CHC. Only 20 cases of invasive CHC have been reported to date. We report a case of a 49-year-old female who presented with a palpable breast lump and nipple discharge. Gross examination showed variable-sized cysts lined by solid grey white tumors. On microscopic examination, cysts were lined by micropapillary fronds with eosinophilic colloid-like secretion with a focus of invasion. A diagnosis of invasive CHC was made. Since there are limited case reports, our understanding of its biological behavior, prognostic factors, and genetic basis is limited.
  • Ulcerative colitis after SARS-CoV-2 infection Clinical Case Report And Review

    Kartsoli, Sofia; Vrakas, Spyridon; Kalomoiris, Dimitrios; Manoloudaki, Kassiani; Xourgias, Vasileios

    Abstract in English:

    ABSTRACT Although severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) affects mainly the respiratory system, the gastrointestinal tract is also considered a site of viral activity. We hereby present the case of a 74-year-old male patient with the diagnosis of new-onset ulcerative colitis. One month earlier, the patient presented fever, running nose, and diarrhea and was tested positive for SARS-CoV-2. Studies with COVID-19 patients revealed significant changes in gut microbiota composition and alterations in immune responses that could lead to chronic inflammation and manifestations of inflammatory bowel disease. We review additional cases of ulcerative colitis presented after SARS-CoV-2 infection and summarize the possible mechanisms that underlie the gastrointestinal abnormalities in COVID-19 patients.
  • Endobronchial lipoma Clinical Case Report And Review

    Anbazhakan, Lakshitha; Ullah, Asad; Munagala, Rohit; Bechara, Rabih; Elhelf, Islam; Patel, Nikhil; Karim, Nagla Abdel

    Abstract in English:

    ABSTRACT Endobronchial lipomas are rare benign lung tumors that can cause bronchial obstruction and parenchymal damage. While an uncommon etiology, they are often misdiagnosed due to a clinical presentation similar to obstructive pulmonary pathologies such as COPD and asthma. Upon review of English-language literature, under 50 cases of endobronchial lipomas were documented in the prior 10 years (2011-2021). There are no clear guidelines regarding the management of this particular entity, but typically interventional debulking is the treatment of choice. Here we present another unique case of endobronchial lipoma along with our diagnostic and therapeutic methodology. The patient underwent bronchoscopic debulking via a cryotherapy probe. Based on the histopathologic analysis, a diagnosis of endobronchial lipoma was made. Endobronchial lipomas must remain in any clinician’s differential when a patient presents with dyspnea. We report the unique location of this lipoma based on our literature review and the importance of investigating endobronchial lesions due to a possible diagnosis of endobronchial lipoma.
  • Deciduosis in a cesarean scar Clinical Case Report And Review

    Jadhav, Toyaja; Doshetty, Rohini

    Abstract in English:

    ABSTRACT Deciduosis is the presence of ectopic decidual tissue outside the uterus, pelvic, or abdominal organs usually associated with pregnancy. Cutaneous deciduosis is a highly uncommon manifestation of deciduosis and most commonly is misdiagnosed as a primary malignancy or a metastatic deposit. Typically, it is detected incidentally during operative procedures. It has been rarely documented within a surgical scar; with the incidence of surgically proven deciduosis being approximately 1.6%, and is often difficult to diagnose due to its rarity. Here, we present a case of deciduosis of cesarean scar in a 34-year-old pregnant female.
  • Clear cell variant of oral squamous cell carcinoma: case report and review Clinical Case Report And Review

    Mukkanwar, Rutuja Narsing; Palaskar, Sangeeta; Pawar, Rasika; Shah, Darshana Rajesh

    Abstract in English:

    Abstract The clear cell variant of Oral Squamous Cell Carcinoma (OSCC) is an uncommon histological variant. Kuo first discovered it in the skin, and Frazier et al. found it in the oral cavity. We know of only nine cases of clear cell variant of OSCC reported in the literature till now. The present case is in a 60-year-old male patient with an ulcer on the left posterolateral border of the tongue. The patient had a history of chewing tobacco for 22 years. Clinical examination showed features of malignant ulcer associated with pain and discomfort. Histopathological examination revealed sheets and islands of atypical epithelial cells with clear cytoplasm, nuclear and cellular pleomorphism, and few keratin pearls in the connective tissue suggesting OSCC. Various special stains were performed to identify clear cells. Periodic Acid Schiff-Diastase (PAS-D) and Mucicarmine stains showed positive and negative reactions in clear cells, respectively. Immunohistochemical (IHC) analysis for cytokeratin (AE1/AE3) showed diffuse positivity in clear cells and other epithelial cells. Based on special stains and IHC markers, we confirmed the diagnosis as a clear cell variant of OSCC. This variant is rare and presents diagnostic challenges. It is said to be aggressive in nature. More such cases should be reported to understand its biological behavior and prognosis.
  • Adult diffuse hepatic hemangiomatosis Clinical Case Report And Review

    Bhardwaj, Neha; Parkhi, Mayur; Kumar, Manish; Kaman, Lileswar; Mitra, Suvradeep

    Abstract in English:

    Abstract 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 well-encapsulated 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.
  • Loss of an eye to mucormycosis following corticosteroid therapy for COVID-19 Clinical Case Report

    Rodrigues, Mariana Gonçalves; Sekiguchi, William Kazunori; Gonçalves, Sérgio; Casal, Yuri Reis; Frassetto, Fernando Pereira; Silva, Vinicius Trindade Gomes da; Santo, Marcelo Prudente do Espírito; Magri, Marcello Mihailenko Chaves

    Abstract in English:

    ABSTRACT Mucormycosis is a rare, sometimes severe fungal infection that has emerged as a possible complication of COVID-19. We report a case of a non-diabetic, apparently immunocompetent patient diagnosed with rhino-orbital-cerebral mucormycosis shortly after COVID-19 treatment with dexamethasone. The patient received optimized systemic antifungal therapy and extensive surgical treatment. So far, four months after the last hospital discharge, the patient has been in good general condition. This case is a dramatic reminder that beneficial corticosteroid therapy in general inevitably carries a risk of opportunistic infection, and corticosteroid therapy for COVID-19 risks orbital-rhinocerebral mucormycosis that clinicians should watch for with vigilance.
  • Fetus in Fetu as a suprarenal mass in a neonate – a rare and perplexing entity Clinical Case Report

    Ravishankar, Namratha; CS, Sheeladevi; Pazhayattil, Joxce

    Abstract in English:

    ABSTRACT Fetus in fetu (FIF) is a rare entity in which a malformed vertebrate fetus is incorporated within its twin. This entity should be differentiated from a teratoma, which has more malignant potential. We describe a neonate with a heterogeneous calcified suprarenal mass. The aspiration cytology revealed a heterogeneous cell population with spindle cells and small round blue cells. Operative and histopathologic examination showed features consistent with a fetus in fetu. This case report describes a rare entity and discusses its clinical presentation, cytological features on fine-needle aspiration, and the difficulties posed in its differentiation from a teratoma.
  • Primary peripheral T-cell lymphoma of the cervix with mononeuritis multiplex: an unusual case presentation Clinical Case Report

    Seal, Ratul; Parkhi, Mayur; Kumar, Rajesh; Mitra, Suvradeep

    Abstract in English:

    ABSTRACT 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.
  • Papillary cystadenoma of the epididymis Clinical Case Report

    Lopez, Olga; Bahmad, Hisham F.; Delgado, Ruben; Cordon, Billy H.; Poppiti, Robert; Howard, Lydia

    Abstract in English:

    ABSTRACT Background Papillary cystadenoma is a rare benign neoplasm of the epididymis. It may occur sporadically or in association with von Hippel-Lindau disease (VHLD). Papillary cystadenoma of the epididymis (PCE) is a benign mimic of metastatic clear cell renal cell carcinoma (CCRCC) given their histologic similarities. Case presentation Herein, we present the case of a 40-year-old man with a four-year history of microhematuria and a recently detected right paratesticular mass. A testicular sonogram revealed a hypoechoic, hypervascular solid mass in the right epididymal head treated by surgical excision. Histopathological examination demonstrated a 1.1 cm papillary cystadenoma of the epididymis. Genetic testing performed later showed no signs of VHLD. However, heterozygous mutations in three genes - CASR, POT1, and RAD51D - were found which have never been reported in PCE before. Conclusions Papillary cystadenoma of the epididymis should always be considered in the differential diagnosis of epididymal lesions, especially those that are cystic. The mainstay of treatment remains surgical excision, which provides an excellent prognosis.
  • Fibrous hamartoma of infancy with sarcomatous transformation: an unusual morphology Clinical Case Report

    Kapatia, Gargi; Chatterjee, Debajyoti; Gupta, Kirti; Trehan, Amita

    Abstract in English:

    ABSTRACT Background Fibrous hamartoma of infancy (FHI) is a rare soft tissue lesion arising as a subcutaneous mass involving the axilla, trunk, and upper arm in infants and children <2yrs. Sarcomatous transformation in FHI is described in anecdotal cases in the literature. Case Report We describe one such example arising as a mass in the lower back in a 3-month-old infant. On histology, the tumor contained classic triphasic morphology; however, brisk mitotic activity noted at multiple foci was diagnostically challenging to categorize. The tumor was evaluated for ETV6-NTRK3 fusion to exclude other common differentials. Conclusion While FHI may be frequently encountered in infants, rare sarcomatous transformation are known to occur and merits special attention as it can be misdiagnosed. Also, a close follow-up is warranted as the lesion is known to recur locally.
  • Pulmonary Alveolar Proteinosis due to Familial Myelodysplastic Syndrome with resolution after stem cell transplant Clinical Case Report

    Basheer, Amjad; Padrao, Eduardo Messias Hirano; Huh, Kangwook; Parker, Susan; Shah, Tejal; Gerardi, Daniel A.

    Abstract in English:

    ABSTRACT Pulmonary alveolar proteinosis (PAP) is a rare lung disease with an incidence of 0.2 cases per million. PAP has multiple causes, including autoimmune, hereditary, congenital, or secondary. The latter includes hematologic conditions and exposure to different kinds of dust. Most patients present fever, dyspnea, and cough. The chest computed tomography (CT) may reveal the crazy-paving polygonal shapes with superimposed ground glass opacities delimited by thickened interlobular septa; however, this finding is more prevalent in patients with autoimmune PAP. Bronchoalveolar lavage (BAL) shows a milky-opaque appearance with PAS-positive debris on cytology. Treatment is focused on the underlying disease; however, some patients may require whole lung lavage for symptomatic management. We report a case of a 30-year-old female with a history of familial myelodysplastic syndrome (MDS) with GATA 2 mutation who presented to the outpatient clinic with several months of progressive dyspnea and nonproductive cough. The chest CT revealed bilateral ground-glass opacities prominently in the upper lobes. She underwent a bronchoscopy with lavage and biopsy, which revealed fragments of lung parenchyma with intra-alveolar coarse granular eosinophilic material strongly positive for PAS and d-PAS. The overall clinical presentation and histologic findings were diagnostic of PAP. Her GM-CSF was negative, and due to her history of MDS, secondary PAP (S-PAP) was strongly suspected. She underwent a successful allogeneic bone marrow pluripotent stem cell transplant to treat the myelodysplastic syndrome, with a follow-up chest CT showing clear lung parenchyma. The patient had resolution of symptoms about four months after the bone marrow transplant, confirming the diagnosis of S-PAP.
  • Pilomatrixoma in the cheek: a clinical case report Clinical Case Report

    Carcassola, Mario Vitor; Campos, Wladimir Gushiken de; Lemos, Celso Augusto; Milani, Basilio de Almeida; Psciolaro, Ricardo Luiz; Ceccheti, Marcelo Minharro

    Abstract in English:

    ABSTRACT Pilomatrixoma is a follicular benign tumor of unknown etiology that originates in the matrix of a hair follicle. It develops more frequently in children and young adults, with a slight predominance in female patients. It is a slow-growing tumor that presents as a mobile nodule, firm, and with well-defined borders. The present study aimed to report the clinical, histopathologic, and radiographic aspects of pilomatrixoma in the cheek area of a 20-year-old female patient as the established treatment at an oral maxillofacial department. Pilomatrixoma is rarely included in the differential diagnosis of masses and nodules in the skin, and it is often confused with other nodular lesions, such as epidermoid cysts. The diagnostic method to identify this entity is an incisional biopsy. Because of its high incidence in the head and neck region, oral surgeons should be well-acquainted with this type of tumor so that it can be included as a diagnostic hypothesis of masses and nodules of the head and neck.
  • Primary Wilms tumor of the urinary bladder Clinical Case Report

    Parkhi, Mayur; Peyam, Srinivasan; Peters, Nitin James; Sodhi, Kushaljit Singh; Trehan, Amita; Bal, Amanjit

    Abstract in English:

    ABSTRACT Wilms tumor (WT) can occur at various extrarenal sites; however, the urinary bladder as the primary site is occasional. A 4-year-old-female child presented with difficulty in micturition for the past month. The contrast-enhanced magnetic resonance imaging with magnetic resonance (MR) urography revealed a polypoidal, heterogeneous mass in the urinary bladder with no abnormality in the kidneys. Cystoscopy-guided biopsy was reported as an extrarenal Wilms tumor (ERWT) with triphasic components. Post-chemotherapy, a computed tomography scan revealed a residual tumor for which she underwent partial cystectomy. The diagnosis of ERWT was confirmed. She received adjuvant chemotherapy and remained well at the 9th month post completion of chemotherapy. The primary bladder WT must be considered in the differential of a small blue round cell tumor at an extrarenal site in the pediatric age group. The diagnosis is especially challenging in small biopsy material, although it has immense significance in management and prognosis.
  • Secondary primary tumor mimicking osteoradionecrosis Clinical Case Report

    Carvalho, Giovanna Lopes; Heguedusch, Daniele; Pellizzon, Antônio Cássio Assis; Lira, Renan Bezerra; Alves, Fábio Abreu; Jaguar, Graziella Chagas

    Abstract in English:

    ABSTRACT Nasopharyngeal carcinoma (NPC) is a malignant tumor rarely found in the head and neck, representing about 1% of all malignancies. The main treatment for NPC is radiation therapy, which is often given in combination with chemotherapy. However, such treatment may lead to long‐term complications, including second primary tumors (SPTs) and osteoradionecrosis (ORN). Both complications have similar radiological characteristics, which can lead to erroneous diagnoses. This paper describes a case of a second primary tumor in a patient after 20 years of radiotherapy in the area where a previous extraction was performed, mimicking an osteoradionecrosis process.
  • Co-occurrence of myeloid neoplasm and plasma cell neoplasm Clinical Case Report

    Jum’ah, Husam; Wang, Yan; Ayub, Salman

    Abstract in English:

    ABSTRACT Co-occurrence of myelodysplastic syndrome (MDS) and plasma cell neoplasm in patients with no history of chemo and/or radiotherapy is rarely reported. Herein, we report a case of a female in her seventieth decade of life who was referred to the hospital for pancytopenia. The patient was asymptomatic and was doing well overall. Serum protein electrophoresis was remarkable for a lambda-restricted monoclonal protein (IgG) estimated at 1.8g/dL. Immunoglobulin G serum level was also elevated, and serum Kappa/Lambda free light chain ratio was decreased. At that time, a bone marrow biopsy showed myelodysplastic syndrome with excess blasts-2 (MDS-EB2) and a monoclonal plasma cell proliferation. Some studies have shown that patients with plasma cell neoplasm could be associated with an increased risk of developing MDS compared to the general population. Based on reviewing the literature, to our knowledge, the pathological mechanism of the co-occurrence of both diseases is not yet clear.
  • Lymphoplasmacyte-rich meningioma with hematologic signs and PD-L1 over-expression Clinical Case Report

    Gaggero, Gabriele; Campora, Michela; Taietti, Davide; Cerruti, Giannamaria; Lo Bue, Enrico; Truffelli, Monica; Ceraudo, Marco; Fiaschi, Pietro

    Abstract in English:

    ABSTRACT Lymphoplasmacyte-rich meningioma (LPRM) is one of the rarest variants of grade I meningiomas. It can be clinically associated with prominent peripheral blood abnormalities, anemia, and/or various gammopathy, which usually disappear after surgical removal of the tumor. We document a case of right frontal LPRM in a 72-year-old male who presented general cognitive decadence. The patient suffered from mild anemia. The LPRM is a rare variant of meningioma, with only a few cases globally reported in the literature. It has been categorized as a grade I tumor in the 2021 World Health Organization (WHO) classification central nervous system. Due to the rarity, this meningioma variant origin and biological behavior are still not clear. Immunohistochemistry profile showed prominent PD-L1 expression, leading to additional interrogation on LPRM immunomorphological characteristics, the significance of the inflammatory tumoral microenvironment and its correlation with the immune-checkpoints.
  • Suppurative minor salivary gland sialolithiasis Clinical Case Report

    Barbeiro, Camila de Oliveira; Barbeiro, Roberto Henrique; Bufalino, Andreia; León, Jorge Esquiche

    Abstract in English:

    ABSTRACT Sialolithiasis is a common nonneoplastic disease of the major salivary glands that often affects the submandibular glands. Minor salivary gland involvement by sialolithiasis is uncommon, with only 273 cases reported. A long clinical history, acute symptoms, and mucopurulent discharge are unusual features of these cases. Herein, we report the case of a 63-year-old woman who complained of symptomatic nodular swelling of the buccal mucosa associated with purulent discharge for several days. The clinical history lasted 15 years, with episodes of asymptomatic non-suppurative swelling in the same area. The patient underwent surgical excision. The microscopic examination revealed chronic nonspecific sialadenitis associated with psammomatous calcifications, confirming minor salivary gland sialolithiasis. After 3 years of follow-up, the patient was free of symptoms. Patients with sialolithiasis are usually asymptomatic; however, swelling, pain, and fistula may be present in rare cases. The presence of purulent exudate should lead to the differential diagnosis of stomatitis glandularis, a rare inflammatory condition affecting the minor salivary glands. Sialolithiasis and stomatitis glandularis should be considered in the clinical differential diagnosis of symptomatic suppurative nodular swelling affecting the oral mucosa, and histopathological analysis is necessary for the diagnosis.
  • Benign glandular schwannoma Clinical Case Report

    Aljerian, Khaldoon

    Abstract in English:

    ABSTRACT We report a case of a benign glandular schwannoma in a 63-year-old male who presented with a solitary subcutaneous mass on the left knee, with no previous history of neurofibromatosis type 1. This histological subtype is rare, with only 38 cases reported in the literature. Some of the glands found in this patient resembled sweat glands. These lining stromal spindle cells were positive for S-100 but negative for EMA. S100 was faintly staining the glandular elements. All the glands in the tumor were positive for EMA, particularly at the luminal borders. They were also positive for pancytokeratin. The cystic areas variably show intraluminal, foamy, and hemosiderin-laden macrophages. The different glands expressed two patterns. Some of these were reactive for CK7 and low molecular weight keratin. Immunohistochemical workup is mandatory to assess the neoplastic nature of this glandular component.
  • Calcifying fibrous tumor Clinical Case Report

    Elsarraj, Hanan; Hamza, Ameer

    Abstract in English:

    ABSTRACT Calcifying fibrous tumor is a rare benign mesenchymal neoplasm. The etiology and pathogenesis of this tumor are uncertain. It has wide anatomical distribution. The tumor is most commonly found in the soft tissues of the extremities in younger individuals. However, in middle-aged patients, it tends to affect the visceral locations more commonly. In visceral location, it can mimic aggressive lesions clinically. The purpose of this report is to describe a case of calcifying fibrous tumor in a 71-year-old female with a history of breast carcinoma who was found to have an incidental small bowel mass on her follow-up. Clinically and radiologically, the mass was suspicious for either metastatic disease or gastrointestinal stromal tumor. The patient underwent open small bowel resection, and a 6.5 cm segment of the small bowel was sent to pathology. Grossly, a 2.0 cm tan-pink smooth round submucosal polyploid mass protruding into the lumen, mimicking a gastrointestinal stromal tumor, was identified. The tumor was hard and serially sectioned to reveal a white, calcified cut surface. Microscopically, the tumor appeared hypocellular and composed of scant spindle cells embedded in a dense, hyalinized and calcified collagenous stroma. Immunohistochemical stains for pan-cytokeratin, DOG1, desmin, S100, CD34, and MUC4 were negative, and a diagnosis of the calcifying fibrous tumor was rendered. This case provides a rare gross specimen image of calcifying fibrous tumor and highlights the importance of knowledge of rare entities in providing an accurate diagnosis for entities that can mimic other lesions.
  • Juxtaglomerular cell tumor: report of a case with unusual presentation Clinical Case Report

    Quach, Priscilla; Hamza, Ameer

    Abstract in English:

    ABSTRACT Juxtaglomerular cell tumor is a benign, renin-secreting neoplasm. The tumor arises from the juxtaglomerular apparatus cells of the kidney. Because the tumor is hormonally active, patients usually suffer from hypokalemia, hyperaldosteronism, and hypertension. Herein, we describe a case of a 19-year-old Asian female with a somewhat unusual presentation. A 19-year-old Asian female presented with upper extremity weakness, numbness, and tingling. On physical examination, the only notable finding was hypertension. Extensive workup revealed elevated aldosterone level and plasma renin activity. CT scan of the abdomen revealed a 2.2 cm mass in the lower pole of the left kidney. The mass was resected by partial nephrectomy. On microscopic evaluation, the tumor had glomoid appearance with sheets of uniform, round to polygonal cells with clear to eosinophilic cytoplasm. Immunohistochemical stains showed the tumor cells to be positive for CD117, CD34 and CD10 and negative for ER, PR, CK7, PAX-8, pan-cytokeratin, EMA, S100, Melan-A, HMB45, SMA and CAIX. Diagnosis of Juxtaglomerular cell tumor was rendered. This case highlights the importance of a regular physical exam and a high index of suspicion in patients presenting with unusual complaints.
  • Adult-onset Still's disease after ChAdOx1 nCoV-19 vaccine: a possible association Clinical Case Report

    Albertino, Laíssa Fiorotti; Moulaz, Isac Ribeiro; Zogheib, Tammer Ferreira; Valentim, Martina Zanotti Carneiro; Machado, Ketty Lysie Libardi Lira

    Abstract in English:

    ABSTRACT With emergent Sars-Cov-2, a highly transmissive virus that caused millions of deaths worldwide, the development of vaccines became urgent to combat COVID-19. Although rare, important adverse effects had been described in a hypothetical scenario of immune system overstimulation or overreaction. Still’s disease is a rare inflammatory syndrome of unknown etiology. It manifests as a cytokine storm, mainly IL-18 and IL-1β, and presents itself with fever spikes, joint pain, maculopapular evanescent salmon-pink skin rash, and sore throat, among other symptoms. Here, we report a case of a 44-year-old healthy male who developed adult-onset Still’s disease (AOSD) with atypical symptoms after both doses of ChAdOx1 nCoV-19 vaccine with 3 months of dose interval. The medical team suspected Still's disease and started prednisone 1 mg/kg (40mg). The next day the patient showed a marked improvement in articular and chest pains and had no other fever episodes. Therefore, he was discharged to continue the treatment in outpatient care. On the six-month follow-up, the patient was free of complaints, and the progressive corticoid withdrawal plan was already finished.
  • Metastasis of mucinous breast carcinoma to the lower alveolus as initial presentation: a diagnostic dilemma Clinical Case Report

    Guha, Priyadarshini; Chowdhury, Zachariah

    Abstract in English:

    ABSTRACT Metastases in the oral cavity are rare and comprise approximately 1% of all oral malignancies. They usually involve the jaws but may also be found in the soft tissues and salivary glands. Women's most common metastatic malignancies are from primary breast cancers. However, metastasis of mucinous breast carcinoma to the lower alveolus mimicking an aggressive primary malignancy as the initial presentation is exceptionally uncommon. We describe the case of a 66-year-old lady with an ulceroproliferative growth in the right lower alveolus. The lesion eroded the mandible and involved the adjacent soft tissues with no prior history of lesion anywhere else. The lesion clinically mimicked a squamous cell carcinoma and masqueraded as a salivary gland mucinous adenocarcinoma on histopathology. The possibility of a metastatic lesion from the breast rather than a primary of the alveolus was also entertained, aided by the immunohistochemical findings of positivity of the tumor cells for GATA3. A positron emission tomography (PET) scan was undertaken to ascertain the primary site. It detected a hypermetabolic lesion in the left breast, which biopsy revealed mucinous breast carcinoma on histopathological evaluation. Metastasis of breast mucinous carcinoma by the hematogenous route is extremely rare; very few cases have been reported. This case illustrates the diagnostic challenges such a lesion can pose to the surgeon and the pathologist. In the advent of such lesions being the initial clinical presentation, a vigilant clinicopathological and radiological assessment is essential to detect the primary.
  • The many faces of endometriosis Clinical Case Report

    Souza Filho, Marcelo Luis Pereira de; Costa, Talita Porto da; Freitas Junior, Nathanael Pinheiro de; Souza, Maiara Ferreira de; Athanazio, Daniel Abensur

    Abstract in English:

    ABSTRACT Endometriosis is a common disease; however, unusual findings may cause diagnostic difficulties. We present herein three cases illustrating different morphological appearances of endometriosis: 1) endometriosis with atypical hyperplasia associated with bilateral ovarian carcinoma (mixed clear cell/endometrioid in the left ovary and endometrioid in the right ovary); 2) deep infiltrating endometriosis with intravascular spread, polypoid configuration in peritoneal surfaces, and involvement of a lymph node; and 3) decidualized endometriosis with prominent myxoid/mucinous change and multivacuolated (pseudoxanthoma) cells. Awareness of uncommon morphological manifestations of endometriosis is important to avoid improper consideration of malignancy.
  • Solitary fibrous tumor of the tongue Clinical Case Report

    Siqueira, Juliana Mota; Heguedusch, Daniele; Aguiar, Emília Maria Gomes; Santos, Anaeliza Figueiredo dos; Alves, Fabio Abreu; Nunes, Fabio Daumas

    Abstract in English:

    ABSTRACT Solitary fibrous tumor (SFT) is a benign mesenchymal neoplasm originally described in pleura with a rare presentation in the oral cavity. Herein, we report a case of a 28-year-old male patient who presented an asymptomatic slow-growing mass in the anterior part of the tongue. Intraoral examination revealed a well-circumscribed mass covered by normal mucosa with a fibrous consistency. Due to non-specific clinical findings, the initial diagnostic hypotheses include benign submucosal neoplasms such as leiomyoma, neurofibroma, SFT, and others. An excisional biopsy was performed. Microscopically, the tumor was surrounded by a thick fibrous capsule; hypo and hypercellular areas were arranged in a storiform pattern with a stroma formed by collagen and abundant vascularization. Tumor cells showed immunopositivity for CD34 and STAT-6 and no expression of CD99, AML, S-100, and Ki-67. According to these findings, the diagnosis of SFT was established. After 24 months, the patient is asymptomatic and has no evidence of recurrence. Although oral involvement is rare, SFT should be included in the differential diagnosis of oral submucosal lesions.
  • The hospital autopsy: the importance in keeping autopsy an option Original Article

    Scarl, Rachel; Parkinson, Bryce; Arole, Vidya; Hardy, Tanner; Allenby, Patricia

    Abstract in English:

    ABSTRACT Autopsy has been one of the most powerful diagnostic tools in medicine for over a century. Despite its importance in establishing cause of death and elucidating pathophysiology of disease, rates of hospital autopsies continue to decline. In this study we aim to determine if physicians believe autopsies are essential to patient care through discussion of autopsy with families. At the same time, we analyzed whether families are more willing to consent to autopsy if physicians are involved in autopsy discussion at the time of death, and what may be the reasons for not wanting an autopsy. Our results showed a doubling in autopsy consent when autopsy was discussed by the physician. Additionally, the biggest reason for families not consenting to autopsy was because they believed they already knew what caused death. The emergence of Coronavirus 2019 (COVID-19) has re-established the value of autopsy, as seen by increased autopsy rates in the past year. This study demonstrates that physician conversation with families on autopsy leads to an increased chance of autopsy consent.
  • Pathology of pulmonary tuberculosis: has the tiger changed it’s stripes? Original Article

    Desai, Heena Maulek; Vaideeswar, Pradeep; Gaikwad, Manish; Amonkar, Gayathri Prashant

    Abstract in English:

    Abstract: Background India accounts for the highest number of TB cases globally (almost one-fifth of the global burden and almost two-thirds of the cases in South East Asia. Furthermore, the development of drug resistance of varying levels such as multi-drug resistant TB (MDR-TB), extensively-drug resistance TB (XDR-TB) and total-drug resistant TB (TDR-TB) has been on the increase, and now India also features in the 27 high-MDRTB-burden countries. Almost parallel to these developments, in the last few years, we have been encountering less common morphological forms of pulmonary TB (PTB) at autopsies. With these less common manifestations of the disease, we undertook this study to examine the changing trends in the morphological pattern of pulmonary TB over the recent years. Methods In this 3-year retrospective study, adult autopsy cases of PTB (that significantly contributed to the final cause of death) were studied in detail. HIV-positive cases were excluded from the study. The clinical details, gross appearances of the pulmonary lesions, microscopic pattern and Ziehl-Neelsen (ZN) staining were studied. Extrapulmonary involvement and causes of death were documented. Results Pulmonary tuberculosis as a cause of death at autopsy was seen in 130 adult patients over 3 years. The age range was between 12 to 70 years. Anti-tuberculous therapy had been administered in 33 of them, but only one patient had taken complete therapy. Dyspnea was the commonest respiratory symptom seen in 51 cases (39.2%). Tuberculous bronchopneumonia was the commonest lesion (45.3%), miliary lesions (including localized miliary) accounted for 26% while fibrocavitary lesions (including the ones not involving apex) were seen in 13% cases. Other morphologies included nodular forms of TB (13%), localized miliary lesions (11.9%), and fibrocavitary lesions, not necessarily involving the apex (11.7% of all fibrocavitary cases), and predominant pleuritis with underlying lung involvement by TB in 1 case. Many cases of TB bronchopneumonia had a bronchocentric pattern of distribution (14.7%). On microscopy, caseating granulomas were seen in 93% cases, only caseation necrosis was seen in 4.6% cases, and necrotizing granulomas with abscess-like reaction in 11.5% cases. ZN staining was positive in 92 cases (70.7%). All the extrapulmonary lesions showed caseating granulomas histologically. The final cause of death was found to be primarily tuberculous in 106 cases (81.5%), whereas in 24 cases (19.5%) pulmonary TB was attributed to the secondary cause of death. Conclusion The typical apical involvement of secondary TB was not seen in most of our cases. This could indicate a difference in the morphology and the pattern of lung involvement in recent years. The difference in gross morphology does not affect the pattern of involvement of the lung. In our study, we have observed both; a change in morphology, i.e., more cases of TB bronchopneumonia, and a change in the pattern of involvement like nodular forms, localized miliary forms, and fibrocavitary lesions not necessarily involving the apex. We postulate that this less common manifestation of pulmonary TB is closely related to the development of multi-drug and microbial resistance posing serious medical challenges.
  • The importance of autopsies despite the declining number amidst the COVID-19 pandemic Letter To The Editor

    Bhatt, Monika; MovaseghiGargari, Mani; Chand, Momal T
  • A gastric ulcer: double trouble Letter To The Editor

    Verhaegh, Pauline; Flink, Hajo; Daniels-Gooszen, Alette; Huysentruyt, Clément; Schoon, Erik
  • Peutz-Jeghers syndrome: revisited Letter To The Editor

    Santos, Vitorino Modesto dos; Santos, Lister Arruda Modesto dos; Modesto, Laura Campos
  • Type A aortic dissection Image In Focus

    Gaggero, Gabriele; Valle, Luca; Ferro, Jacopo; Taietti, Davide
  • Extraventricular neurocytoma Image In Focus

    Gaggero, Gabriele; Valle, Luca; Ferro, Jacopo; Taietti, Davide; Spina, Bruno
  • Porencephalic cyst in adult Image In Focus

    Tambuzzi, Stefano; Gentile, Guendalina; Zoja, Riccardo
  • Neuro-toxoplasmosis and fatal necrotizing cerebellitis Image In Focus

    Gaggero, Gabriele; Campora, Michela; Dose, Beatrice; Taietti, Davide; Vena, Antonio; Delfino, Emanuele
  • Primary hepatic angiosarcoma in an elderly patient Image In Focus

    Parkhi, Mayur; Sekar, Aravind
  • Pilomatricoma in the neck of an adult male Image In Focus

    Ulzen-Appiah, Kofi
  • Renal lymphangiectasia Image In Focus

    Rajasekaran, Sangamitra; Parkhi, Mayur; Kanojia, Ravi; Sekar, Aravind; Nada, Ritambhra
  • Gastric undifferentiated carcinoma, INI1-negative Image In Focus

    Gaggero, Gabriele; Carlin, Luca; Concardi, Margherita; Ingaliso, Marta; Taietti, Davide
  • ERRATUM: Partial retraction of “Dyskeratosis congenita” [Autops Case Rep 10(3) (2020) e2020203] Erratum

  • ERRATUM: Fatal hemorrhage from peripheral varicose vein rupture Erratum

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