Trichoepithelioma (TE) is a rare benign adnexal tumor that develops from the hair follicle and ma... more Trichoepithelioma (TE) is a rare benign adnexal tumor that develops from the hair follicle and may occur as solitary or multiple lesions. Solitary trichoepithelioma (STE) is uncommon and presents a diagnostic dilemma, with its clinical and histopathologic features showing considerable overlap with other cutaneous neoplasms, including basal cell carcinoma (BCC). We present the case of a 71-year-old man with a slowly growing, focally ulcerated lesion on the right side of the scrotum skin. Histologic examination revealed distinctive nests of basaloid cells with keratin horn cysts and a fibrous cellular stroma consistent with STE. Immunohistochemistry (IHC) findings supported the diagnosis, and germline testing of CYLD was negative. This case underlines the importance of including TE in the differential diagnosis of adnexal neoplasms and reflects the significance of clinical knowledge to avoid misdiagnosis. We also present a short literature review of this uncommon tumor.
Dermatofibrosarcoma protuberans (DFSP) is a rare low-grade soft tissue sarcoma originating from t... more Dermatofibrosarcoma protuberans (DFSP) is a rare low-grade soft tissue sarcoma originating from the dermis and subcutaneous tissue. Though it represents only about 1% of all soft tissue sarcomas, its transformation to a fibrosarcoma (DFSP-FS) is exceedingly rare. DFSP generally manifests as a slowly enlarging, nontender mass commonly misdiagnosed as a benign fibrohistiocytic lesion, including dermatofibroma or nodular fasciitis. Accurate diagnosis at an early stage is important because fibrosarcomatous (FS) transformation influences therapeutic decisions and prognosis. We report a 21-yearold woman with a 3 cm mass in her right anterior thigh diagnosed as a benign fibrohistiocytic lesion. Despite a benign diagnosis and conservative management, it recurred four years later with features characteristic of DFSP-FS. The histopathological assessment showed significant atypia, intense mitotic activity, and a herringbone pattern, confirming its malignant transformation. CD34 positivity in DFSP cells and negativity in the fibrosarcomatous areas on immunohistochemistry (IHC) studies supported the diagnosis. The presented case serves as a reminder to include DFSP in the differential diagnosis of benign fibrohistiocytic lesions. Our patient was not diagnosed with DFSP initially, contributing to intervention delay and progression to an aggressive phenotype. Recurrence and malignant transformation can be avoided by early diagnosis and complete excision with clear margins.
Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized primarily by symmetric po... more Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized primarily by symmetric polyarthritis with systemic inflammatory components and extra-articular manifestations. Subcutaneous rheumatoid nodules (RNs) constitute one of the classical components of the clinical picture of RA. However, its manifestation as multiple back nodules are quite rare, and may be diagnostically challenging and mistaken for more serious conditions. Thus, comprehensive diagnostic evaluation and histopathological confirmation are essential for diagnosis and treatment, especially in patients with no history of rheumatoid manifestation. We describe a case of a 45-year-old woman presenting with multiple back nodules, who was potentially misdiagnosed with soft tissue sarcoma. However, further investigations concluded the diagnosis of RNs. We discuss this uncommon presentation and briefly review the related literature.
Idiopathic eosinophilic pneumonia (IEP) is a rare and complex disease. It usually presents in the... more Idiopathic eosinophilic pneumonia (IEP) is a rare and complex disease. It usually presents in the form of acute idiopathic eosinophilic pneumonia (AIEP) or chronic idiopathic eosinophilic pneumonia (CIEP). The common clinical picture of IEP comprises nonspecific respiratory symptoms that can easily be confused with other common conditions. The diversity of differential diagnoses, the subtlety of radiologic findings, and the lack of specific clinical tests can prolong and confuse the clinical course. Much research has been done on the clinical and pathologic features of acute and chronic eosinophilic cases of pneumonia. Conversely, the idiopathic and subacute forms have been the subject of only a handful of published papers, where each only contained a small number of cases. We present and discuss a case of IEP, the challenges involved in this diagnosis. its management and the importance of its recognition.
Cerebellar hemangioblastomas (CHs) are rare benign vascular tumors that can pose a diagnostic cha... more Cerebellar hemangioblastomas (CHs) are rare benign vascular tumors that can pose a diagnostic challenge, especially in patients with a prior history of malignancy. CHs have a radiologic appearance analogous to metastatic lesions, which can lead to potential misdiagnoses and thus require a multimodal approach for the right diagnosis. We present a case of a 51-year-old woman with a past medical history of breast carcinoma (BC), who gradually developed progressive cerebellar symptoms. Imaging of the brain showed a mass in the cerebellum with marked edema, which was thought to be metastatic breast carcinoma (MBC). However, histopathological examination and immunohistochemical (IHC) studies helped establish the diagnosis of CH. The surgery was performed, but two years later, the tumor grew back. The patient then underwent radiotherapy with no evidence of tumor recurrence in the following 26 months. This case shows that CHs can be difficult to diagnose, especially in patients with a history of cancer. Histopathology and IHC studies are essential for diagnostic accuracy. Prompt recognition and management, which may include surgery and adjuvant radiotherapy in case of recurrence, can result in good long-term outcomes. In addition to metastatic disease, progressive cerebellar symptoms should raise the possibility of CHs in the posterior fossa in patients with a history of cancer. This report emphasizes the importance of a multidisciplinary approach to diagnosing and managing these tumors, including imaging, histopathology and IHC studies.
Cardiac myxomas (CM) are the most common primary cardiac neoplasms and typically present with loc... more Cardiac myxomas (CM) are the most common primary cardiac neoplasms and typically present with localized structural and obstructive symptoms. The clinical presentation is nonspecific, making timely and accurate diagnosis challenging. Because myxomas can present similarly to various acquired pathologies, clinician vigilance is required to differentiate them from such entities. Cardiac myxomas are the most prevalent primary tumors of the heart, accounting for around 30-50% of benign variants and 10-20% of all cardiothoracic neoplasms. Most often, they are in the left atrium and are linked with palpitations, dyspnea, constitutional symptoms, syncope, and systemic emboli. However, given the nonspecific nature of such symptoms, in addition to the presence of benign pathologies that can cause hemodynamic obstruction, the clinical presentation of cardiac myxomas remains quite variable, with a significant number of undiagnosed cases being attributed to a low index of suspicion for primary cardiac tumors. We present a case of a 63year-old woman who was initially diagnosed with chronic obstructive pulmonary disease (COPD) and later correctly diagnosed with large atrial myxoma. We also review the pertinent literature on this uncommon tumor. The case emphasizes the importance of careful consideration and differential diagnosis of cardiac myxomas when patients present with related signs and symptoms that can mimic other cardiac pathologies.
Heavy chain disease (HCD) is a rare form of monoclonal gammopathies of undetermined significance ... more Heavy chain disease (HCD) is a rare form of monoclonal gammopathies of undetermined significance (MGUS) characterized by deletions in heavy chain gene resulting in defective heavy chain protein that cannot bind to light chain to form complete Ig molecule. Gamma heavy chain disease (γ-HCD) is a rare form of HCD, which is extremely rare, with fewer reported cases compared to other heavy chain diseases such as alpha heavy chain disease (associated with IgA) and mu heavy chain disease (associated with IgM). γ-HCD is a rare B-cell lymphoproliferative disorder characterized by the secretion of a truncated hinge region of the B-cell immunoglobulin molecule by a malignant clone of plasma cells producing the heavy chain gamma isotype in the absence of accompanying light chains. The true incidence of this disease is not known, as there are likely many asymptomatic individuals. The clinical diagnosis requires demonstrating both a serum monoclonal protein (M-protein) that contains HC and an absence or low concentration of the corresponding intact immunoglobulin (Ig). The diagnosis of γ-HCD is frequently delayed either because the patient has no symptoms or because the patient has symptoms for which there may be many differential diagnoses. We report the appearance of γ-HCD in an SLE patient mainly characterized by later conversion to diffuse large B-cell lymphomas (DLBCLs). We also briefly review the pertinent literature on this uncommon condition, including clinical manifestations, diagnosis, management, complications, and prognosis.
Pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare lung disease characterized by the abnorm... more Pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare lung disease characterized by the abnormal accumulation of Langerhans cells in lung tissue, mainly occurring in the second or third decades of life. The disease was named Histiocytosis X, but the name was changed to PLCH. The term "eosinophilic granuloma" historically referred to the characteristic histological appearance, which includes eosinophil-rich inflammatory infiltrates alongside Langerhans cells. However, the preferred nomenclature now emphasizes the role of Langerhans cells, hence the widespread use of the term PLCH. Whether the stressor driving the disease course is external or internal has not yet been conclusively shown. The disease is classified within the group of rare diseases, but histopathology reports have suggested that it is underdiagnosed because of the scarcity of publications on this subject. The disease is hardly ever diagnosed when present without significant pulmonary manifestations or extrapulmonary involvement. There is no proposed treatment algorithm, and some outcomes appear unsatisfactory because of loss to follow-up, recurrence, or adverse effects from treatment. The clinical presentation of PLCH can mimic other chronic obstructive lung diseases, such as chronic obstructive pulmonary disease or asthma, given that affected individuals present with cough, dyspnea, chest pain, and sometimes wheezing on auscultation. Misdiagnosis or diagnostic delay is not infrequent as there is no agreement on the optimal diagnostic approach for PLCH. We present the case of a 53-year-old man who complained of mixed respiratory symptoms and was eventually diagnosed with PLCH. We also briefly review the pertinent literature on this uncommon condition.
Synovial Sarcoma (SS) is a high-grade mesenchymal tumor generally appearing in the lower extremit... more Synovial Sarcoma (SS) is a high-grade mesenchymal tumor generally appearing in the lower extremities, with only 5% of cases appearing in the head and neck region. This case report highlights the 20th reported case of Primary Thyroid Synovial Sarcoma (PTSS) in the world literature; this one was identified in Central Africa. Our treatment plan stemmed from analyzing the previously documented cases of PTSS over the last 22 years to understand the etiology, diagnostic modalities, treatment, and post-operative management. Pre-operative Fine Needle Aspiration (FNA) diagnosed spindle cell malignancy but was insufficient to determine a specific diagnosis. A definitive diagnosis of PTSS was made based on her clinical condition after thyroidectomy with debulking surgery and lymph node dissection. We recommended post-operative treatment with radiation therapy and adjuvant chemotherapy with six cycles of doxorubicin and ifosfamide. The patient recovered uneventfully and remained recurrence-free for 38 months before she w
Ectopic pregnancies (EPs) are pregnancies that occur outside of the endometrial cavity; 97% occur... more Ectopic pregnancies (EPs) are pregnancies that occur outside of the endometrial cavity; 97% occur in the fallopian tube. These cases are characterized by a variety of clinical presentations, which may include dark or mixed red bleeding, abdominal pain, and nonspecific gastrointestinal symptoms, which, when combined with a positive hCG, is classic of a suspected EP. If left untreated, this can eventually lead to serious maternal complications. The abdominal mesentery, a rare implantation site, poses a unique challenge for clinicians as the clinical presentation and management can differ considerably from other fallopian tube or extratubal sites. This is a report of a rare case of abdominal ectopic pregnancy (AEP), which also serves as a platform for future discussion, as management of such cases is not part of the usual clinical conversations. This case report increases the surgical and medical review teams' awareness of rare abdominal ectopic pregnancy cases and their need to be recognized early and managed.
We present a case of a 77-year-old man who was admitted for the treatment of a right femoral neck... more We present a case of a 77-year-old man who was admitted for the treatment of a right femoral neck fracture resulting from a minor fall at home. The patient reported pain intensity fluctuating from mild to extremely severe. Laboratory tests showed elevated alkaline phosphatase levels (ALP) with normal calcium and phosphate homeostasis. The patient reported no significant past medical history, but notably, his family history included his grandmother and cousin affected by skull involvement of Paget's disease of bone (PDB). Physical examination revealed a right genu varum deformity and a fixed adduction contracture of the right knee, with chronic knee pain. Besides the femoral head fracture, radiological findings on posteroanterior bilateral knee X-rays demonstrated marked genu varum and diffuse enlargement of the femur and tibia, with proximal and distal ends sparing. PDB disease was first diagnosed from the pathological findings of the fractured femur. After surgical fixation of the fracture with total hip arthroplasty (THA), the patient was managed conservatively and showed stability with no complications over a 28-month follow-up period. This case highlights the clinical and radiological features of Paget's disease-related bone deformities and reviews the relevant literature on clinical presentation, diagnosis, management, and outcomes.
MOH Journal of Medical Case Reports https://mohjournals.com/index.php/moh/issue/view/20, 2025
Giant cell myocarditis (GCM) is an uncommon, aggressive form of inflammatory myocardial disease c... more Giant cell myocarditis (GCM) is an uncommon, aggressive form of inflammatory myocardial disease characterized by abundant multinucleated giant cells infiltrating the myocardium. GCM is a rare disease that can be fatal within months of diagnosis. Early diagnosis and effective management strategies that reduce inflammation and improve ejection fraction (EF) are essential for managing patients with GCM. Failure to adequately support these patients often results in further decompensation. Atrial fibrillation and a raised brain natriuretic peptide (BNP) suggest rapid decompensation and urgent management is required to reduce tachycardia-related cardiomyopathy and pulmonary congestion. Elderly patients presenting with rapid acute decompensated heart failure (ADHF) are not always investigated for a possible GCM, as the rapid deterioration is thought to be due to aging. However, this case demonstrates the importance of investigation even in older age. We present a case of a previously healthy 71-year-old female who presented with profound acute onset biventricular cardiac failure and refractory pulmonary edema and, finally, a diagnosis of GCM. We present the clinical presentation, investigation, management, and outcome. We also review the relevant literature on this serious condition.
Spinal myxopapillary ependymoma (MPE) is a rare tumor with a tendency for local recurrence. There... more Spinal myxopapillary ependymoma (MPE) is a rare tumor with a tendency for local recurrence. There is limited research available on spinal MPEs. These tumors, which arise from intradural or extramedullary locations, are uncommon. For effective clinical management, healthcare providers must be well-versed in the diverse clinical, radiographic, and pathological features of intraspinal MPE. A 47-year-old man, previously untreated for sacral numbness and anal retention, reported a two-month history of slow gait and movement-induced burning pain. Standard MRI and CT scans revealed signals of an extrinsic intramedullary lower thoracic filum terminale lesion. Following tumor removal, the final diagnosis was confirmed as MPE, WHO grade-2. Implementing a multidisciplinary approach to treating intraspinal tumors, including comprehensive diagnostic and therapeutic strategies, can improve patient care. Moreover, due to the rarity of spinal tumors and the subsequent risk of complex or inaccurate diagnoses, a thorough understanding of this condition is vital. We present this case and review the pertinent literature on this tumor
Neuroendocrine tumors (NETs) are rare tumors detected incidentally in patients undergoing investi... more Neuroendocrine tumors (NETs) are rare tumors detected incidentally in patients undergoing investigations for some other disease process. When occurring in the digestive system and exocrine glands, the Well-differentiated NETs are seen in the tubular structures of these organs. These are slow-growing, and many are asymptomatic. Due to the scarcity of cases, most treatment modalities are based on expert opinions and institutional guidelines. Presentation of an appendiceal well-differentiated tumor is classically an incidental finding on pathology in a patient undergoing appendectomy for presumed appendicitis. Oncological protocols are different, owing to the natural history of appendiceal neuroendocrine tumors (ANETs). This limits the accumulation of more mature data in pediatric or adult literature. ANETs need a multidisciplinary approach to handling these neoplasms. Clarifying the appendix histopathological diagnosis and classification may be complicated and require ancillary studies by the diagnostic pathologist. We present the case of a 58-year-old woman referred by her primary care physician for evaluation and surgical management of an incidentally discovered 3 cm neuroendocrine tumor in the appendix, initially thought to be appendicitis. We present this case's clinical presentation, investigation, management, and prognosis. We also discuss and review the relevant literature on this tumor.
Systemic Mastocytosis (SM) belongs to a family of rare hematologic disorders in which there is an... more Systemic Mastocytosis (SM) belongs to a family of rare hematologic disorders in which there is an overproduction of mast cells in tissues, causing various symptoms varying from self-limiting to life-threatening. This report illustrates common clinical features, treatment options, and aggressive SM (ASM) consequences. A 68-year-old female patient with intestinal obstruction. A laparotomy was performed, and the mass was excised with segmental resection of the small intestine. Systemic Mastocytosis was suspected on microscopic examination, and a bone marrow (BM) biopsy and aspiration were performed. Immunohistochemistry studies (IHC) and molecular analyses complemented the microscopic examination and confirmed the diagnosis of ASM. Although chemotherapy was provided, it was discontinued due to severe side effects. The patient expired five months after her diagnosis. The path to such a rapid progression of the disease is stark and, apart from the course of events, has several distinctive clinical features, including the initial presentation of what appeared to be a gastrointestinal condition of a benign nature - highlighting the need for differential diagnostic procedures. These important observations highlight the urgent need for clinicians to be aware of systemic Mastocytosis, especially if the entity is aggressive, and a diagnosis should be made as soon as possible. This case exemplifies the management difficulties in handling this condition and the potential for misdiagnosis where intervention can differ. We encourage future research to focus on improving diagnostic protocols and evaluating novel therapeutic approaches for aggressive systemic Mastocytosis.
MOH Journal of Medical Case Reports , Dec 26, 2024
Secretory breast carcinoma (SBC) is a rare, low-grade breast carcinoma that is freque... more Secretory breast carcinoma (SBC) is a rare, low-grade breast carcinoma that is frequently difficult to diagnose due to its uncommon presentation and histological characteristics. We report a case of a 39-year-old female who presented with a palpable breast mass in her right breast. Two years earlier, mammographic studies were inconclusive for a localized right breast thickening but favored a benign process. The patient did not follow the recommendation to follow up until two years later when she observed a gradual mass enlargement. With tissue biopsy and appropriate investigations, she was diagnosed with SBC. The clinical presentation, diagnostic workup, and follow-up treatment strategy are summarized, and the excellent prognosis of localized SBC is stressed. Treatment modalities, including surgical interventions and adjuvant therapies, are reviewed for this tumor. The present case emphasizes the need for enhanced awareness among clinicians to facilitate an earlier diagnosis and management of secretory breast carcinoma for prompt treatment and a favorable patient outcome.
Primary bone lymphomas (PBLs) are uncommon and constitute a considerable diagnostic difficulty be... more Primary bone lymphomas (PBLs) are uncommon and constitute a considerable diagnostic difficulty because of the diverse clinical presentations and radiologic features that overlap with those of other bone diseases. This case report details a 31-year-old man who had a pathological fracture of the right proximal femur and femoral head after he complained of chronic pain and restricted right hip motion. Additional tests, including imaging and biopsy, showed that a diffuse large B-cell lymphoma (DLBCL), an uncommon condition at this anatomical site, was present. Because PBL can mirror other diseases such as osteosarcoma, Ewing sarcoma, metastatic carcinoma, and other small blue round-cell tumors, it can be difficult to diagnose based on radiographic images and histomorphology alone. Histopathological investigation, immunohistochemistry, and molecular analysis were utilized to confirm the diagnosis, showing the presence of CD20-positive large B-cells and other DLBCL-consistent markers. This case highlights the significance of immunohistochemical and molecular approaches in differentiating DLBCL from other bone tumors, demonstrating their vital role in making an accurate diagnosis and directing the right course of treatment. Given the aggressive nature of DLBCL and its distinct therapy approaches compared to other bone malignancies, early and accurate identification is crucial for improving patient outcomes.
MOH Journal of Medical Case Reports , Oct 14, 2024
A 65-year-old man was admitted for persistent nonspecific symptoms, including muscle weakness, Ic... more A 65-year-old man was admitted for persistent nonspecific symptoms, including muscle weakness, Ichthyosiform dermatosis, and pain during walking. Computerized tomograms (CT) of the pelvis and lower limb regions detected a lytic lesion in the left femur. Based on the imaging preliminary features, the first possible diagnosis of the lesion was a primary bone tumor. However, due to the patient's age and several years of viral hepatitis, the differential diagnosis included a metastatic process from an unknown organ, potentially the liver. Biopsy of the lesion was performed, and additional imaging studies were performed. The histopathological examination and immunohistochemical markers (IHC) confirmed the diagnosis of metastatic hepatocellular carcinoma (HCC). This case illustrates the difficulty of diagnosing metastatic HCC, particularly in abnormal locations like the femur bone. It also demonstrates that IHC and a thorough clinical history greatly help differentiate a primary bone tumor from a metastatic lesion. The report also emphasizes the need for a multidisciplinary approach in treating complex cases where initial appearances might be misleading.
Primary intraocular lymphoma (PIOL), especially B-cell lymphoma, is an uncommon yet aggressive ne... more Primary intraocular lymphoma (PIOL), especially B-cell lymphoma, is an uncommon yet aggressive neoplasm that predominantly impacts the retina and vitreous body. The clinical appearance is frequently nonspecific and renowned for its mimetic characteristics. PIOL often leads to diagnostic delays and improper therapy as clinicians mistake it for uveitis or other inflammatory ocular conditions. The deceptive characteristics of PIOL pose a considerable obstacle to early detection, requiring sophisticated diagnostic methods. We present a case of a 59-year-old man who exhibited growing vision impairment and symptoms indicative of chronic uveitis. The initial treatment intended to control inflammation was unsuccessful. Subsequently, a fine needle aspiration biopsy conducted in an office setting indicated malignant B-cell lymphoma. The timely initiation of therapy and adjuvant chemotherapy prevented the disease from spreading and successfully reintegrated the patient into daily life, including resuming work and participating in social activities.
Adenosarcoma (AS) is a rare biphasic tumor characterized by both benign epithelial and malignant ... more Adenosarcoma (AS) is a rare biphasic tumor characterized by both benign epithelial and malignant stromal components, typically arising in the uterus as a Müllerian adenosarcoma (MAS), which is an uncommon variant of Müllerian mixed tumor (MMT). However, extramullerian adenosarcoma (EMAS) is an uncommon presentation, especially when it arises in association with endometriosis. We report the case of a 49-yearold woman diagnosed with recurrent extrauterine adenosarcoma arising in colonic endometriosis. The diagnosis was challenging due to the rarity of this tumor in extrauterine sites and its overlap with other biphasic malignancies, such as carcinosarcoma (CS). Immunohistochemical studies and a detailed histopathological assessment were essential in differentiating adenosarcoma (AS) from carcinosarcoma (CS), as these tumors have distinct prognostic and therapeutic implications. This case highlights the importance of considering adenosarcoma in the differential diagnosis of biphasic tumors, particularly in patients with a history of endometriosis. Early and accurate identification is crucial for appropriate management and improved outcomes.
Trichoepithelioma (TE) is a rare benign adnexal tumor that develops from the hair follicle and ma... more Trichoepithelioma (TE) is a rare benign adnexal tumor that develops from the hair follicle and may occur as solitary or multiple lesions. Solitary trichoepithelioma (STE) is uncommon and presents a diagnostic dilemma, with its clinical and histopathologic features showing considerable overlap with other cutaneous neoplasms, including basal cell carcinoma (BCC). We present the case of a 71-year-old man with a slowly growing, focally ulcerated lesion on the right side of the scrotum skin. Histologic examination revealed distinctive nests of basaloid cells with keratin horn cysts and a fibrous cellular stroma consistent with STE. Immunohistochemistry (IHC) findings supported the diagnosis, and germline testing of CYLD was negative. This case underlines the importance of including TE in the differential diagnosis of adnexal neoplasms and reflects the significance of clinical knowledge to avoid misdiagnosis. We also present a short literature review of this uncommon tumor.
Dermatofibrosarcoma protuberans (DFSP) is a rare low-grade soft tissue sarcoma originating from t... more Dermatofibrosarcoma protuberans (DFSP) is a rare low-grade soft tissue sarcoma originating from the dermis and subcutaneous tissue. Though it represents only about 1% of all soft tissue sarcomas, its transformation to a fibrosarcoma (DFSP-FS) is exceedingly rare. DFSP generally manifests as a slowly enlarging, nontender mass commonly misdiagnosed as a benign fibrohistiocytic lesion, including dermatofibroma or nodular fasciitis. Accurate diagnosis at an early stage is important because fibrosarcomatous (FS) transformation influences therapeutic decisions and prognosis. We report a 21-yearold woman with a 3 cm mass in her right anterior thigh diagnosed as a benign fibrohistiocytic lesion. Despite a benign diagnosis and conservative management, it recurred four years later with features characteristic of DFSP-FS. The histopathological assessment showed significant atypia, intense mitotic activity, and a herringbone pattern, confirming its malignant transformation. CD34 positivity in DFSP cells and negativity in the fibrosarcomatous areas on immunohistochemistry (IHC) studies supported the diagnosis. The presented case serves as a reminder to include DFSP in the differential diagnosis of benign fibrohistiocytic lesions. Our patient was not diagnosed with DFSP initially, contributing to intervention delay and progression to an aggressive phenotype. Recurrence and malignant transformation can be avoided by early diagnosis and complete excision with clear margins.
Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized primarily by symmetric po... more Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized primarily by symmetric polyarthritis with systemic inflammatory components and extra-articular manifestations. Subcutaneous rheumatoid nodules (RNs) constitute one of the classical components of the clinical picture of RA. However, its manifestation as multiple back nodules are quite rare, and may be diagnostically challenging and mistaken for more serious conditions. Thus, comprehensive diagnostic evaluation and histopathological confirmation are essential for diagnosis and treatment, especially in patients with no history of rheumatoid manifestation. We describe a case of a 45-year-old woman presenting with multiple back nodules, who was potentially misdiagnosed with soft tissue sarcoma. However, further investigations concluded the diagnosis of RNs. We discuss this uncommon presentation and briefly review the related literature.
Idiopathic eosinophilic pneumonia (IEP) is a rare and complex disease. It usually presents in the... more Idiopathic eosinophilic pneumonia (IEP) is a rare and complex disease. It usually presents in the form of acute idiopathic eosinophilic pneumonia (AIEP) or chronic idiopathic eosinophilic pneumonia (CIEP). The common clinical picture of IEP comprises nonspecific respiratory symptoms that can easily be confused with other common conditions. The diversity of differential diagnoses, the subtlety of radiologic findings, and the lack of specific clinical tests can prolong and confuse the clinical course. Much research has been done on the clinical and pathologic features of acute and chronic eosinophilic cases of pneumonia. Conversely, the idiopathic and subacute forms have been the subject of only a handful of published papers, where each only contained a small number of cases. We present and discuss a case of IEP, the challenges involved in this diagnosis. its management and the importance of its recognition.
Cerebellar hemangioblastomas (CHs) are rare benign vascular tumors that can pose a diagnostic cha... more Cerebellar hemangioblastomas (CHs) are rare benign vascular tumors that can pose a diagnostic challenge, especially in patients with a prior history of malignancy. CHs have a radiologic appearance analogous to metastatic lesions, which can lead to potential misdiagnoses and thus require a multimodal approach for the right diagnosis. We present a case of a 51-year-old woman with a past medical history of breast carcinoma (BC), who gradually developed progressive cerebellar symptoms. Imaging of the brain showed a mass in the cerebellum with marked edema, which was thought to be metastatic breast carcinoma (MBC). However, histopathological examination and immunohistochemical (IHC) studies helped establish the diagnosis of CH. The surgery was performed, but two years later, the tumor grew back. The patient then underwent radiotherapy with no evidence of tumor recurrence in the following 26 months. This case shows that CHs can be difficult to diagnose, especially in patients with a history of cancer. Histopathology and IHC studies are essential for diagnostic accuracy. Prompt recognition and management, which may include surgery and adjuvant radiotherapy in case of recurrence, can result in good long-term outcomes. In addition to metastatic disease, progressive cerebellar symptoms should raise the possibility of CHs in the posterior fossa in patients with a history of cancer. This report emphasizes the importance of a multidisciplinary approach to diagnosing and managing these tumors, including imaging, histopathology and IHC studies.
Cardiac myxomas (CM) are the most common primary cardiac neoplasms and typically present with loc... more Cardiac myxomas (CM) are the most common primary cardiac neoplasms and typically present with localized structural and obstructive symptoms. The clinical presentation is nonspecific, making timely and accurate diagnosis challenging. Because myxomas can present similarly to various acquired pathologies, clinician vigilance is required to differentiate them from such entities. Cardiac myxomas are the most prevalent primary tumors of the heart, accounting for around 30-50% of benign variants and 10-20% of all cardiothoracic neoplasms. Most often, they are in the left atrium and are linked with palpitations, dyspnea, constitutional symptoms, syncope, and systemic emboli. However, given the nonspecific nature of such symptoms, in addition to the presence of benign pathologies that can cause hemodynamic obstruction, the clinical presentation of cardiac myxomas remains quite variable, with a significant number of undiagnosed cases being attributed to a low index of suspicion for primary cardiac tumors. We present a case of a 63year-old woman who was initially diagnosed with chronic obstructive pulmonary disease (COPD) and later correctly diagnosed with large atrial myxoma. We also review the pertinent literature on this uncommon tumor. The case emphasizes the importance of careful consideration and differential diagnosis of cardiac myxomas when patients present with related signs and symptoms that can mimic other cardiac pathologies.
Heavy chain disease (HCD) is a rare form of monoclonal gammopathies of undetermined significance ... more Heavy chain disease (HCD) is a rare form of monoclonal gammopathies of undetermined significance (MGUS) characterized by deletions in heavy chain gene resulting in defective heavy chain protein that cannot bind to light chain to form complete Ig molecule. Gamma heavy chain disease (γ-HCD) is a rare form of HCD, which is extremely rare, with fewer reported cases compared to other heavy chain diseases such as alpha heavy chain disease (associated with IgA) and mu heavy chain disease (associated with IgM). γ-HCD is a rare B-cell lymphoproliferative disorder characterized by the secretion of a truncated hinge region of the B-cell immunoglobulin molecule by a malignant clone of plasma cells producing the heavy chain gamma isotype in the absence of accompanying light chains. The true incidence of this disease is not known, as there are likely many asymptomatic individuals. The clinical diagnosis requires demonstrating both a serum monoclonal protein (M-protein) that contains HC and an absence or low concentration of the corresponding intact immunoglobulin (Ig). The diagnosis of γ-HCD is frequently delayed either because the patient has no symptoms or because the patient has symptoms for which there may be many differential diagnoses. We report the appearance of γ-HCD in an SLE patient mainly characterized by later conversion to diffuse large B-cell lymphomas (DLBCLs). We also briefly review the pertinent literature on this uncommon condition, including clinical manifestations, diagnosis, management, complications, and prognosis.
Pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare lung disease characterized by the abnorm... more Pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare lung disease characterized by the abnormal accumulation of Langerhans cells in lung tissue, mainly occurring in the second or third decades of life. The disease was named Histiocytosis X, but the name was changed to PLCH. The term "eosinophilic granuloma" historically referred to the characteristic histological appearance, which includes eosinophil-rich inflammatory infiltrates alongside Langerhans cells. However, the preferred nomenclature now emphasizes the role of Langerhans cells, hence the widespread use of the term PLCH. Whether the stressor driving the disease course is external or internal has not yet been conclusively shown. The disease is classified within the group of rare diseases, but histopathology reports have suggested that it is underdiagnosed because of the scarcity of publications on this subject. The disease is hardly ever diagnosed when present without significant pulmonary manifestations or extrapulmonary involvement. There is no proposed treatment algorithm, and some outcomes appear unsatisfactory because of loss to follow-up, recurrence, or adverse effects from treatment. The clinical presentation of PLCH can mimic other chronic obstructive lung diseases, such as chronic obstructive pulmonary disease or asthma, given that affected individuals present with cough, dyspnea, chest pain, and sometimes wheezing on auscultation. Misdiagnosis or diagnostic delay is not infrequent as there is no agreement on the optimal diagnostic approach for PLCH. We present the case of a 53-year-old man who complained of mixed respiratory symptoms and was eventually diagnosed with PLCH. We also briefly review the pertinent literature on this uncommon condition.
Synovial Sarcoma (SS) is a high-grade mesenchymal tumor generally appearing in the lower extremit... more Synovial Sarcoma (SS) is a high-grade mesenchymal tumor generally appearing in the lower extremities, with only 5% of cases appearing in the head and neck region. This case report highlights the 20th reported case of Primary Thyroid Synovial Sarcoma (PTSS) in the world literature; this one was identified in Central Africa. Our treatment plan stemmed from analyzing the previously documented cases of PTSS over the last 22 years to understand the etiology, diagnostic modalities, treatment, and post-operative management. Pre-operative Fine Needle Aspiration (FNA) diagnosed spindle cell malignancy but was insufficient to determine a specific diagnosis. A definitive diagnosis of PTSS was made based on her clinical condition after thyroidectomy with debulking surgery and lymph node dissection. We recommended post-operative treatment with radiation therapy and adjuvant chemotherapy with six cycles of doxorubicin and ifosfamide. The patient recovered uneventfully and remained recurrence-free for 38 months before she w
Ectopic pregnancies (EPs) are pregnancies that occur outside of the endometrial cavity; 97% occur... more Ectopic pregnancies (EPs) are pregnancies that occur outside of the endometrial cavity; 97% occur in the fallopian tube. These cases are characterized by a variety of clinical presentations, which may include dark or mixed red bleeding, abdominal pain, and nonspecific gastrointestinal symptoms, which, when combined with a positive hCG, is classic of a suspected EP. If left untreated, this can eventually lead to serious maternal complications. The abdominal mesentery, a rare implantation site, poses a unique challenge for clinicians as the clinical presentation and management can differ considerably from other fallopian tube or extratubal sites. This is a report of a rare case of abdominal ectopic pregnancy (AEP), which also serves as a platform for future discussion, as management of such cases is not part of the usual clinical conversations. This case report increases the surgical and medical review teams' awareness of rare abdominal ectopic pregnancy cases and their need to be recognized early and managed.
We present a case of a 77-year-old man who was admitted for the treatment of a right femoral neck... more We present a case of a 77-year-old man who was admitted for the treatment of a right femoral neck fracture resulting from a minor fall at home. The patient reported pain intensity fluctuating from mild to extremely severe. Laboratory tests showed elevated alkaline phosphatase levels (ALP) with normal calcium and phosphate homeostasis. The patient reported no significant past medical history, but notably, his family history included his grandmother and cousin affected by skull involvement of Paget's disease of bone (PDB). Physical examination revealed a right genu varum deformity and a fixed adduction contracture of the right knee, with chronic knee pain. Besides the femoral head fracture, radiological findings on posteroanterior bilateral knee X-rays demonstrated marked genu varum and diffuse enlargement of the femur and tibia, with proximal and distal ends sparing. PDB disease was first diagnosed from the pathological findings of the fractured femur. After surgical fixation of the fracture with total hip arthroplasty (THA), the patient was managed conservatively and showed stability with no complications over a 28-month follow-up period. This case highlights the clinical and radiological features of Paget's disease-related bone deformities and reviews the relevant literature on clinical presentation, diagnosis, management, and outcomes.
MOH Journal of Medical Case Reports https://mohjournals.com/index.php/moh/issue/view/20, 2025
Giant cell myocarditis (GCM) is an uncommon, aggressive form of inflammatory myocardial disease c... more Giant cell myocarditis (GCM) is an uncommon, aggressive form of inflammatory myocardial disease characterized by abundant multinucleated giant cells infiltrating the myocardium. GCM is a rare disease that can be fatal within months of diagnosis. Early diagnosis and effective management strategies that reduce inflammation and improve ejection fraction (EF) are essential for managing patients with GCM. Failure to adequately support these patients often results in further decompensation. Atrial fibrillation and a raised brain natriuretic peptide (BNP) suggest rapid decompensation and urgent management is required to reduce tachycardia-related cardiomyopathy and pulmonary congestion. Elderly patients presenting with rapid acute decompensated heart failure (ADHF) are not always investigated for a possible GCM, as the rapid deterioration is thought to be due to aging. However, this case demonstrates the importance of investigation even in older age. We present a case of a previously healthy 71-year-old female who presented with profound acute onset biventricular cardiac failure and refractory pulmonary edema and, finally, a diagnosis of GCM. We present the clinical presentation, investigation, management, and outcome. We also review the relevant literature on this serious condition.
Spinal myxopapillary ependymoma (MPE) is a rare tumor with a tendency for local recurrence. There... more Spinal myxopapillary ependymoma (MPE) is a rare tumor with a tendency for local recurrence. There is limited research available on spinal MPEs. These tumors, which arise from intradural or extramedullary locations, are uncommon. For effective clinical management, healthcare providers must be well-versed in the diverse clinical, radiographic, and pathological features of intraspinal MPE. A 47-year-old man, previously untreated for sacral numbness and anal retention, reported a two-month history of slow gait and movement-induced burning pain. Standard MRI and CT scans revealed signals of an extrinsic intramedullary lower thoracic filum terminale lesion. Following tumor removal, the final diagnosis was confirmed as MPE, WHO grade-2. Implementing a multidisciplinary approach to treating intraspinal tumors, including comprehensive diagnostic and therapeutic strategies, can improve patient care. Moreover, due to the rarity of spinal tumors and the subsequent risk of complex or inaccurate diagnoses, a thorough understanding of this condition is vital. We present this case and review the pertinent literature on this tumor
Neuroendocrine tumors (NETs) are rare tumors detected incidentally in patients undergoing investi... more Neuroendocrine tumors (NETs) are rare tumors detected incidentally in patients undergoing investigations for some other disease process. When occurring in the digestive system and exocrine glands, the Well-differentiated NETs are seen in the tubular structures of these organs. These are slow-growing, and many are asymptomatic. Due to the scarcity of cases, most treatment modalities are based on expert opinions and institutional guidelines. Presentation of an appendiceal well-differentiated tumor is classically an incidental finding on pathology in a patient undergoing appendectomy for presumed appendicitis. Oncological protocols are different, owing to the natural history of appendiceal neuroendocrine tumors (ANETs). This limits the accumulation of more mature data in pediatric or adult literature. ANETs need a multidisciplinary approach to handling these neoplasms. Clarifying the appendix histopathological diagnosis and classification may be complicated and require ancillary studies by the diagnostic pathologist. We present the case of a 58-year-old woman referred by her primary care physician for evaluation and surgical management of an incidentally discovered 3 cm neuroendocrine tumor in the appendix, initially thought to be appendicitis. We present this case's clinical presentation, investigation, management, and prognosis. We also discuss and review the relevant literature on this tumor.
Systemic Mastocytosis (SM) belongs to a family of rare hematologic disorders in which there is an... more Systemic Mastocytosis (SM) belongs to a family of rare hematologic disorders in which there is an overproduction of mast cells in tissues, causing various symptoms varying from self-limiting to life-threatening. This report illustrates common clinical features, treatment options, and aggressive SM (ASM) consequences. A 68-year-old female patient with intestinal obstruction. A laparotomy was performed, and the mass was excised with segmental resection of the small intestine. Systemic Mastocytosis was suspected on microscopic examination, and a bone marrow (BM) biopsy and aspiration were performed. Immunohistochemistry studies (IHC) and molecular analyses complemented the microscopic examination and confirmed the diagnosis of ASM. Although chemotherapy was provided, it was discontinued due to severe side effects. The patient expired five months after her diagnosis. The path to such a rapid progression of the disease is stark and, apart from the course of events, has several distinctive clinical features, including the initial presentation of what appeared to be a gastrointestinal condition of a benign nature - highlighting the need for differential diagnostic procedures. These important observations highlight the urgent need for clinicians to be aware of systemic Mastocytosis, especially if the entity is aggressive, and a diagnosis should be made as soon as possible. This case exemplifies the management difficulties in handling this condition and the potential for misdiagnosis where intervention can differ. We encourage future research to focus on improving diagnostic protocols and evaluating novel therapeutic approaches for aggressive systemic Mastocytosis.
MOH Journal of Medical Case Reports , Dec 26, 2024
Secretory breast carcinoma (SBC) is a rare, low-grade breast carcinoma that is freque... more Secretory breast carcinoma (SBC) is a rare, low-grade breast carcinoma that is frequently difficult to diagnose due to its uncommon presentation and histological characteristics. We report a case of a 39-year-old female who presented with a palpable breast mass in her right breast. Two years earlier, mammographic studies were inconclusive for a localized right breast thickening but favored a benign process. The patient did not follow the recommendation to follow up until two years later when she observed a gradual mass enlargement. With tissue biopsy and appropriate investigations, she was diagnosed with SBC. The clinical presentation, diagnostic workup, and follow-up treatment strategy are summarized, and the excellent prognosis of localized SBC is stressed. Treatment modalities, including surgical interventions and adjuvant therapies, are reviewed for this tumor. The present case emphasizes the need for enhanced awareness among clinicians to facilitate an earlier diagnosis and management of secretory breast carcinoma for prompt treatment and a favorable patient outcome.
Primary bone lymphomas (PBLs) are uncommon and constitute a considerable diagnostic difficulty be... more Primary bone lymphomas (PBLs) are uncommon and constitute a considerable diagnostic difficulty because of the diverse clinical presentations and radiologic features that overlap with those of other bone diseases. This case report details a 31-year-old man who had a pathological fracture of the right proximal femur and femoral head after he complained of chronic pain and restricted right hip motion. Additional tests, including imaging and biopsy, showed that a diffuse large B-cell lymphoma (DLBCL), an uncommon condition at this anatomical site, was present. Because PBL can mirror other diseases such as osteosarcoma, Ewing sarcoma, metastatic carcinoma, and other small blue round-cell tumors, it can be difficult to diagnose based on radiographic images and histomorphology alone. Histopathological investigation, immunohistochemistry, and molecular analysis were utilized to confirm the diagnosis, showing the presence of CD20-positive large B-cells and other DLBCL-consistent markers. This case highlights the significance of immunohistochemical and molecular approaches in differentiating DLBCL from other bone tumors, demonstrating their vital role in making an accurate diagnosis and directing the right course of treatment. Given the aggressive nature of DLBCL and its distinct therapy approaches compared to other bone malignancies, early and accurate identification is crucial for improving patient outcomes.
MOH Journal of Medical Case Reports , Oct 14, 2024
A 65-year-old man was admitted for persistent nonspecific symptoms, including muscle weakness, Ic... more A 65-year-old man was admitted for persistent nonspecific symptoms, including muscle weakness, Ichthyosiform dermatosis, and pain during walking. Computerized tomograms (CT) of the pelvis and lower limb regions detected a lytic lesion in the left femur. Based on the imaging preliminary features, the first possible diagnosis of the lesion was a primary bone tumor. However, due to the patient's age and several years of viral hepatitis, the differential diagnosis included a metastatic process from an unknown organ, potentially the liver. Biopsy of the lesion was performed, and additional imaging studies were performed. The histopathological examination and immunohistochemical markers (IHC) confirmed the diagnosis of metastatic hepatocellular carcinoma (HCC). This case illustrates the difficulty of diagnosing metastatic HCC, particularly in abnormal locations like the femur bone. It also demonstrates that IHC and a thorough clinical history greatly help differentiate a primary bone tumor from a metastatic lesion. The report also emphasizes the need for a multidisciplinary approach in treating complex cases where initial appearances might be misleading.
Primary intraocular lymphoma (PIOL), especially B-cell lymphoma, is an uncommon yet aggressive ne... more Primary intraocular lymphoma (PIOL), especially B-cell lymphoma, is an uncommon yet aggressive neoplasm that predominantly impacts the retina and vitreous body. The clinical appearance is frequently nonspecific and renowned for its mimetic characteristics. PIOL often leads to diagnostic delays and improper therapy as clinicians mistake it for uveitis or other inflammatory ocular conditions. The deceptive characteristics of PIOL pose a considerable obstacle to early detection, requiring sophisticated diagnostic methods. We present a case of a 59-year-old man who exhibited growing vision impairment and symptoms indicative of chronic uveitis. The initial treatment intended to control inflammation was unsuccessful. Subsequently, a fine needle aspiration biopsy conducted in an office setting indicated malignant B-cell lymphoma. The timely initiation of therapy and adjuvant chemotherapy prevented the disease from spreading and successfully reintegrated the patient into daily life, including resuming work and participating in social activities.
Adenosarcoma (AS) is a rare biphasic tumor characterized by both benign epithelial and malignant ... more Adenosarcoma (AS) is a rare biphasic tumor characterized by both benign epithelial and malignant stromal components, typically arising in the uterus as a Müllerian adenosarcoma (MAS), which is an uncommon variant of Müllerian mixed tumor (MMT). However, extramullerian adenosarcoma (EMAS) is an uncommon presentation, especially when it arises in association with endometriosis. We report the case of a 49-yearold woman diagnosed with recurrent extrauterine adenosarcoma arising in colonic endometriosis. The diagnosis was challenging due to the rarity of this tumor in extrauterine sites and its overlap with other biphasic malignancies, such as carcinosarcoma (CS). Immunohistochemical studies and a detailed histopathological assessment were essential in differentiating adenosarcoma (AS) from carcinosarcoma (CS), as these tumors have distinct prognostic and therapeutic implications. This case highlights the importance of considering adenosarcoma in the differential diagnosis of biphasic tumors, particularly in patients with a history of endometriosis. Early and accurate identification is crucial for appropriate management and improved outcomes.
Adenosarcoma (AS), mullerian or extramullerianis an uncommon biphasic tumor that displa... more Adenosarcoma (AS), mullerian or extramullerianis an uncommon biphasic tumor that displays malignant stromal and benign epithelial components. Assessing for sarcomatous overgrowth and myometrial invasion, which are critical prognostic factors, is crucial in all cases. AS, typically respond well to optimal surgical resection and generally are low-grade tumors. However, the high-grade mixed tumor variant, the adenosarcoma with sarcomatous overgrowth (ASSO), is frequently associated with invasion, metastasis, and a poor prognosis. The pathogenesis of the extrauterine Müllerian adenosarcoma (EMAS) is not well determined. However, several studies have suggested that endometriotic foci might undergo a neoplastic transformation. It is well established that endometriosis-related cancer can be caused by exogenous hormonal therapy. We report a case of a 41-year-old woman who presented with recurrent high-grade adenosarcoma arising from pelvic endometriosis. In this report, we review the current literature and present the clinical, histopathologic, Immunohistochemistry (IHC) profile, and molecular biology of adenosarcoma.
Cancer immunotherapy: a brief review of the history, possibilities, and challenges ahead, 2017
The knowledge that the body possesses natural defenses to combat cancer existed long before the m... more The knowledge that the body possesses natural defenses to combat cancer existed long before the modern period, with multiple anecdotal reports of tumors miraculously disappearing, sometimes spontaneously or after a febrile or infectious episode. Spontaneous tumor regression of untreated malignant tumors is currently a well-accepted albeit rare phenomenon, and it is recognized that immunosuppression is associated with a higher cancer risk. The treatment of bladder carcinoma by intravesical administration of live attenuated Bacillus Calmette-Guérin bacteria was shown to be very effective in 1976 and is now standard treatment. Effective immunity against cancer involves complex interactions between the tumor, the host, and the environment. Cancer immunotherapy uses various strategies to augment tumor immunity and represents a paradigm shift in treating cancer, since attention has become more focused on the "biologic passport" of the individual tumor rather than the site of origin of the tumor. The different types of cancer immunotherapies discussed here include biologic modifiers, such as cytokines and vaccines, adoptive cell therapies, oncolytic viruses, and antibodies against immune checkpoint inhibitors, such as the co-inhibitory T-cell receptor PD-1 and one of its ligands, programmed death-ligand 1.
Role of Fine Needle Aspiration Cytology in Clinical Practice Page 549 - 560, 2000
BOOK CHAPTER:
Textbook: Women's Primary Health Care-Office Practice and Procedures
Authors: Patr... more BOOK CHAPTER: Textbook: Women's Primary Health Care-Office Practice and Procedures Authors: Patricia Wasserman and Mohamed Aziz Editors: Vicki L Seltzer, Warren H. Pearse Publisher: McGraw-Hill, 2000, New York, Edition 2. ISBN: 0-07-058044-8
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Papers by M Aziz, MD
and institutional guidelines. Presentation of an appendiceal well-differentiated tumor is classically an incidental finding on pathology in a patient undergoing appendectomy for presumed appendicitis.
Oncological protocols are different, owing to the natural history of appendiceal neuroendocrine tumors (ANETs). This limits the accumulation of more mature data in pediatric or adult literature. ANETs need a
multidisciplinary approach to handling these neoplasms. Clarifying the appendix histopathological diagnosis and classification may be complicated and require ancillary studies by the diagnostic pathologist.
We present the case of a 58-year-old woman referred by her primary care physician for evaluation and surgical management of an incidentally discovered 3 cm neuroendocrine tumor in the appendix, initially
thought to be appendicitis. We present this case's clinical presentation, investigation, management, and prognosis. We also discuss and review the relevant literature on this tumor.
severe side effects. The patient expired five months after her diagnosis. The path to such a rapid progression of the disease is stark and, apart from the course of events, has several distinctive clinical features, including the initial presentation of what appeared to be a gastrointestinal condition of a benign nature - highlighting the need for differential diagnostic procedures. These important observations highlight the urgent need for clinicians to be aware of systemic Mastocytosis, especially if the entity is aggressive, and a diagnosis should be made as soon as possible. This case exemplifies the management difficulties in handling this condition and the potential for misdiagnosis where intervention can differ. We encourage future research to focus on improving diagnostic protocols and evaluating novel therapeutic approaches for aggressive systemic Mastocytosis.
and institutional guidelines. Presentation of an appendiceal well-differentiated tumor is classically an incidental finding on pathology in a patient undergoing appendectomy for presumed appendicitis.
Oncological protocols are different, owing to the natural history of appendiceal neuroendocrine tumors (ANETs). This limits the accumulation of more mature data in pediatric or adult literature. ANETs need a
multidisciplinary approach to handling these neoplasms. Clarifying the appendix histopathological diagnosis and classification may be complicated and require ancillary studies by the diagnostic pathologist.
We present the case of a 58-year-old woman referred by her primary care physician for evaluation and surgical management of an incidentally discovered 3 cm neuroendocrine tumor in the appendix, initially
thought to be appendicitis. We present this case's clinical presentation, investigation, management, and prognosis. We also discuss and review the relevant literature on this tumor.
severe side effects. The patient expired five months after her diagnosis. The path to such a rapid progression of the disease is stark and, apart from the course of events, has several distinctive clinical features, including the initial presentation of what appeared to be a gastrointestinal condition of a benign nature - highlighting the need for differential diagnostic procedures. These important observations highlight the urgent need for clinicians to be aware of systemic Mastocytosis, especially if the entity is aggressive, and a diagnosis should be made as soon as possible. This case exemplifies the management difficulties in handling this condition and the potential for misdiagnosis where intervention can differ. We encourage future research to focus on improving diagnostic protocols and evaluating novel therapeutic approaches for aggressive systemic Mastocytosis.
Textbook: Women's Primary Health Care-Office Practice and Procedures
Authors: Patricia Wasserman and Mohamed Aziz
Editors: Vicki L Seltzer, Warren H. Pearse
Publisher: McGraw-Hill, 2000, New York, Edition 2.
ISBN: 0-07-058044-8