Unusual clinical presentation of a giant parathyroid adenoma: A case report from Morocco highlighting the rare entity and atypical symptoms.

Primary hyperparathyroidism (PHPT), an endocrine disorder most commonly caused by parathyroid adenoma (PTA), manifests with a diverse array of symptoms, reflecting the multisystem impact of parathyroid hormone: nephrolithiasis, peptic ulcer disease, psychiatric disorders, muscle weakness, constipation, polyuria, pancreatitis, myalgia, and arthralgia. Rarely do these PTA attain a significant size. PHPT is usually diagnosed through biochemical tests, and radiological imaging characterizes the adenoma. Serum 25-hydroxyvitamin D levels are useful in explaining the large adenoma size. Here, we report a rare case of a 60-year-old female from Morocco who presented with marked dyspnea due to a giant PTA.

Primary mismatch repair-deficient IDH-mutant astrocytoma in child: Unusual entity.

INTRODUCTION: "Primary Mismatch Repair-Deficient IDH-mutant Astrocytoma" (PMMRDIA) is a newly identified high-grade glioma with a poor prognosis. It has not been officially recognized as a distinct entity in the 5th edition of the WHO Classification of Central Nervous System Tumors 2021, making its diagnosis challenging. CASE PRESENTATION: To highlight this entity, we present the case of a 7-year-old boy with a family history of cerebral tumor among the father's relatives and first-degree parental consanguinity. He experienced increased intracranial hypertension and inguinal café-au-lait macules. Brain imaging revealed a cystic and solid mass with irregular enhancement in the left parietal lobe, indicating a possible Pilocytic astrocytoma. The final diagnosis of PMMRDIA was confirmed through histological, immunohistochemical, and molecular analysis. CLINICAL DISCUSSION: This tumor is mainly observed in children and is characterized by microsatellite instability (MSI) and high tumor mutational burden (TMB). MSI is known to occur in recurrent IDH-mutant gliomas as a resistance mechanism towards alkylating chemotherapy. CONCLUSION: In PMMRDIA, MSI can be a good predictive biomarker for responding to immunotherapy, which could improve the outcome of these children.

Pathologic features of head and neck adult rhabdomyosarcoma: Case series.

INTRODUCTION: Adult Head and neck Rhabdomyosarcomas (HNRMS) are exceedingly rare and remain challenging for pathologists. CASES PRESENTATION: Five cases of adult HNRMS (≥19 years) were retrieved from the archives of the Department of Pathology of Hospital of Specialities in Rabat (HSR) in Morocco, over 5 years. Clinical and pathologic findings from hematoxylin and eosin slides and immunohistochemistry for Desmin and Myogenin were reviewed. CLINICAL DISCUSSION: The median age was 33, with a men's predominance (3 M/2F). Histological analysis revealed three cases of Alveolar Rhabdomyosarcoma (RMS), one Pleomorphic RMS, and one spindle cell/sclerosing RMS. In addition to the typical histology observed in each RMS, we found tricky growth patterns that could be a source of misdiagnosis. All five cases demonstrated variable positivity for Desmin and Myogenin. CONCLUSION: HNRMS cases have different pathological features than pediatric RMS cases. We identified rare subtypes such as pleomorphic and spindle cell/sclerotic RMS, which exhibit unusual morphological patterns.

Primary malignant melanoma of the parotid gland: A case report.

The primary malignant melanoma of the parotid is a rare and complex clinical entity, posing numerous diagnostic challenges due to the absence of melanin in the tumor and its histological similarities with other poorly differentiated lesions. Accurate diagnosis often requires advanced imaging techniques and immunohistochemical procedures to identify specific melanoma markers. Therapeutically, total parotidectomy with simultaneous cervical dissection is frequently recommended, although approaches combining surgery, chemotherapy, radiotherapy, or even immunotherapy are also being explored. Despite these advancements, malignant parotid melanoma continues to be associated with a grim prognosis, emphasizing the importance of ongoing research to improve therapeutic options and understanding of this rare pathology.

Chondroblastic osteosarcoma of the nasal cavity: an exceptional and misdiagnosed presentation.

Chondroblastic osteosarcoma of the nasal cavity is a rare and aggressive tumor that presents diagnostic challenges due to its variable clinical and radiological features. Histological analysis is crucial for an accurate diagnosis, despite morphological similarities with chondrosarcoma. We present a case of primary craniofacial chondroblastic osteosarcoma originating from the nasal cavity in a 17-year-old adolescent. The tumor was characterized by cartilaginous lobules and spindle cell proliferation with osteoid matrix deposition. Immunohistochemical analysis supported the diagnosis. This case highlights the rarity of this particular presentation and emphasizes the significance of accurate diagnosis through histopathological evaluation to achieve optimal management.

Primary epithelioid angiosarcoma of the mandibular gingiva: diagnostic pitfalls, about an unusual entity.

Primary angiosarcoma of the oral cavity is a rare malignant vascular neoplasm variably recapitulating endothelial cells and is generally associated with a worse prognosis. The epithelioid subtype is even uncommon in this localization. To our knowledge, only seven cases of primary oral epithelioid angiosarcoma have been reported until 2021. This histopathological variant is characterized by solid and sheet-like growth patterns that may be misinterpreted as other lesions with epithelioid cells. Herein, we present a new case of primary epithelioid angiosarcoma of the mandibular gingiva to discuss histopathological differential diagnoses and potential diagnostic pitfalls.

Exploring a rare case of juvenile psammomatoid ossifying fibroma in the ethmoid: a case study and review.

Juvenile ossifying fibroma (JOF) and its variants, including juvenile psammomatoid ossifying fibroma (JPOF), represent rare yet clinically significant benign fibro-osseous lesions that primarily occur in children and young adolescents. They can be found in diverse anatomical sites such as the jaw, nasal cavity, paranasal sinuses, and orbit. JOF exhibits an aggressive nature, necessitating early radiological detection and surgical intervention. Similarly, JPOF, with a locally malignant potential, requires surgical removal, typically conducted through endoscopic approaches. We report a case of a 5-year-old girl with JPOF arising in the ethmoid, revealed by recurrent epistaxis and proptosis. The text emphasizes the importance of early diagnosis through histopathology as a diagnostic tool and underscores the need for appropriate management.

Pseudomyogenic Hemangioendothelioma Arising in the Maxillary Sinus, an Uncommon and Misdiagnosed Tumor: A Case Report.

Pseudomyogenic hemangioendothelioma (PMHE) is a rare vascular neoplasm with an intermediate to low-grade malignant potential. Only 5% of PMHEs occur in the head and neck. This tumor exhibits different histological patterns and mimics other vascular tumors, myoid tumors, or carcinomas. The distinction between these tumors can be a very challenging situation for pathologists. In this article, we report the first case, to our knowledge, of PMHE arising in the maxillary sinus, to highlight this uncommon entity and discuss differential diagnoses.

Dermoid cyst, unusual location of the pterion: About a case and review of literature.

Intracranial dermoid cysts are benign tumors of congenital origin. The intradiploic forms are rare, exceptional at the pterional level. We report the case of a 10-year-old girl who presented with a cutaneous fistula in the left frontotemporal region. The blind end of the fistula was an intradiploic dermoid cyst in the rare location of the pterion confirmed by imaging and histopathology. Once this lesion is suspected, it is important to identify its location and morphology using imaging techniques and to complete excision of the cyst to avoid complications associated with infection and to mitigate the risk of subtotal resection.

Intramasseteric Solitary Myofibroma: A Case Report.

Solitary myofibroma or infantile myofibroma is a rare spindle cell neoplasm that generally affects infants before the age of 2 years but cases in young children and adults have been described. Although the location of infantile myofibroma in the oral and maxillofacial region has been described, the intramasseteric location of the lesion is very uncommon. A thorough assessment of histopathological and immunohistochemical characteristics is necessary to have a correct diagnosis. Treatment relies on surgical resection. In this article, we present a rare clinical case of a 15-year-old patient with a myofibroma of the masseteric muscle and its management.

A giant peripheral ossifying fibroma of the mandible: A rare case report.

INTRODUCTION: Peripheral ossifying fibroma (POF) is an unusual localized, reactive benign gingival growth. POF is usually small in size, it's measure <2 cm in diameter, but rarely reaches important sizes. The aim of this work was to present a rare case report of a giant peripheral ossifying fibroma of the mandible measuring >2 cm in diameter, misdiagnosed as peripheral myxoma. CASE PRESENTATION: We present the case of a 42-year-old woman with a large peripheral ossifying fibroma in the oral cavity measuring 6 × 4 cm in diameter. The patient presented with an asymptomatic, slowly growing gingival mass in the left anterior and posterior region of the mandible. It gradually increased in size for more than two years. The patient had a mild mental deficit; however, we performed biopsy surgery, which revealed a peripheral myxoma, and then treated the tumor by excision under local anesthesia. The final histopathological examination revealed a peripheral ossifying fibroma. CLINICAL DISCUSSION: This case report shows that POF can grow and reach unusual dimensions that may contribute to occlusal problems. The diagnosis of POF is based on clinical and radiographic features. The histopathological examination of the biopsy specimen can misdiagnose the lesion; therefore, the final diagnosis is based on the histopathological examination of the complete excised lesion. CONCLUSION: POF is usually small, but can reach a larger size. The histopathological examination of the entire lesion is of paramount importance to make a final diagnosis.

Rhinoscleroma in a 9-year old boy: Rare case report.

Rhinoscleroma is a rare benign granulomatous disease in children, the pathogen of which is Klebsiella rhinoscleromatis. Rhinoscleroma almost always affects the respiratory tract, the nasal cavities are the most common site, but can also be found over the entire extent of the respiratory tree, clinically the patient often presents with nasal obstruction with other non-specific signs, Histology is the basis of the diagnosis of rhinoscleroma. Early and appropriate medical treatment improves the prognosis and prevents progression to disabling sequelae. We present the case of a 9-year-old child who presented to the pediatric emergency department with a 2-month history of nasal obstruction unresponsive to medical treatment (Oxymetazoline). This was accompanied by mild nasal swelling and intermittent episodes of epistaxis. A CT scan of the paranasal sinuses was performed, ruling out a malignant tumor in the nasal cavity due to the absence of bone lysis. A nasal cavity biopsy with histopathological examination was conducted, confirming the diagnosis of rhinoscleroma. This was supported by the presence of an infiltrate rich in histiocytes and plasma cells, along with the identification of Russell bodies during PAS (Periodic Acid Schiff) staining. The patient underwent a medical treatment regimen involving a sulfamide-based antibiotic therapy (trimethoprim/sulfamethoxazole) for 8 weeks, along with a short-term corticosteroid therapy at a dose of 1 mg/kg/24 hours. At the first follow-up after 1 month, there was a noticeable reduction in nasal swelling and an improvement in nasal obstruction. A second follow-up 3 months later showed favorable results, with complete disappearance of both the swelling and nasal obstruction. Considering the possibility of recurrence, an annual follow-up was decided upon.

A rare presentation of a spinal diffuse midline glioma in a child: a case report.

Our patient had an extremely rare type of pediatric Diffuse Midline Glioma (DMG) with modified H3 K27 that occurred in the cervical spinal cord. Due to its location in the spinal cord, slow clinical presentation with torticollis for 7 months, and the non-specific radiological appearance of this tumour, it was initially considered to be a low-grade glioma. Based on imaging findings, the neurosurgery team performed a complete surgical resection, but the pathological features were consistent with a high-grade, diffuse midline glioma. Therefore, we are reporting a case of an altered high-grade DMG H3K27 glioma, which is difficult to diagnose due to its slow clinical symptoms which caused a delay in diagnosis, non-specific imaging, and with difficulty in accessing histopathological markers in low and middle income countries (LMIC).

Diagnostic challenge: primary leptomeningeal melanoma with melanomatosis, illustrative case report.

Primary leptomeningeal melanoma is an extremely rare type of intracranial melanoma. It cannot be reliably distinguished from metastatic melanoma on neuroimaging and histopathological characteristics alone; its diagnosis is established only after exclusion of secondary metastatic disease from a cutaneous, mucosal or retinal primary. Prognosis is poor, partly due to its high rate of misdiagnosis. Herein, we report a case of a primary meningeal melanoma of the skull base with melanomatosis, in a 31-year-old man, mimicking meningioma. Our aim is to highlight the diagnostic pitfalls and to discuss the histopathological differential diagnoses, especially with other pigmented lesions of central nervous system.

Solitary infantile myofibromatosis of the petrous bone: a diagnostic pitfall in uncommon location illustrated by a case report.

Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and early childhood. Solitary intracranial involvement is rare and often unrecognized. This makes its early diagnosis and adequate management difficult. The majority of lesions are localized to the skull or dura with variable intracranial extension. Herein, we report a misdiagnosed and aggressive presentation of a solitary IM of the petrous bone. Our aim is to discuss histopathological differential diagnoses and management difficulties.

Numb chin syndrome revealing a mandibular metastasis: Case report.

INTRODUCTION AND IMPORTANCE: Numb chin syndrome (NCS), although rare, is an important clinical finding. It may be a metastatic neurologic manifestation of malignancy, often with no clinically visible pathologic finding. CASE PRESENTATION: A 40-year-old female, with prior history of breast cancer, presented to our service with complaint of pain and left mandibular hypoesthesia for four months. Panoramic showed several irregular osteolytic lesions of the mandibular body. CT-scan images showed a large irregular hypodense lesion and a tissue infiltration of the left mandibular body blowing the buccal cortex. Histopathology showed a neoplastic proliferation of carcinomatous cells positive for the cytokeratin AE1/AE3. A diagnosis of breast carcinoma mandibular metastasis was made. The patient was referred sent to the oncology committee. She was treated with Palbociclib and hormone therapy. CLINICAL DISCUSSION: In the oral cavity, the mandible is the most common site for metastasis. Metastatic tumors of the oral cavity may be asymptomatic or present different non-pathognomonic. Numb chin syndrome which is considered as an important presentation of oral metastases. The consideration of malignancy as a differential diagnosis may help in early diagnosis and intervention that may affect disease prognosis. CONCLUSION: Dentists and other oral health care providers must be aware of this condition to consider metastatic cancer in patients with unexplained facial hypoesthesia.

Bifocal Intracanial Rosai-Dorfman Disease Mimicking Lymphoplasmacyte-Rich Meningioma: Diagnostic Pitfalls About a Case Report.

Rosai-Dorfman disease (RDD) is a clonal histiocytic proliferation characterized by large S100 positive histiocytes with variable emperipolesis. Extranodal locations were confirmed with the central nervous system or the meninges involvement in less than 5% of cases, which is marked as a significant differential diagnosis of meningiomas in radiological and intra-operative pathological examination. Histopathology and immunohistochemistry are the keys to definitive diagnosis. We present a case of bifocal Rosai-Dorfman disease in a 26-year-old man, mimicking Lymphoplasmacyte-rich Meningioma. This case allows us to demonstrate the diagnosis pitfalls encountered in this localization.

Glioma dataset from Rabat: Clinicopathological, immunohistochemical and disease progression features of 32 Moroccan patients with diffuse Glioma.

The Moroccan Glioma Dataset contains the clinical data of 32 patients with glioma. The clinical data including demographic data (age, sex), tumor characteristics (tumor location, Glioma type, Karnofsky performance score, mitotic activity, cell density, necrosis, endotheliocapillary vascular proliferation, MRI contrast pick-up, corpus collosum infiltration and Oedema), treatment strategy (subtotal resection, gross resection, biopsy, radiotherapy, chemotherapy), expression pattern of tumor biomarkers (IDH1, HIF-1alpha, P53, Ki-67), and survival data (Kaplan-Meier curves for disease progression). The dataset can be used to relate tumor characteristics to tumor biomarkers and to predict disease progression for a better treatment management. The data were presented, analyzed, and described in the article "Immunohistochemical expression of HIF-1α, IDH1 and TP53: prognostic profile of Moroccan patients with diffuse glioma" published in Journal of Chemical Neuroanatomy [1].

Malignant peripheral nerve sheath tumors of the sino-nasal tract: about an unusual case report.

Malignant peripheral nerve sheath tumors are defined as malignant tumors arising from or differentiating toward the cells of the peripheral nerve sheath. They occur in about 8-16% within the head and neck region. Morphologically, some malignant tumors look like malignant peripheral nerve sheath tumors, particularly in the head and neck location; however, immunohistochemistry have a great contribution to distinguish between them. This case report is on a 45-year-old woman with a malignant peripheral nerve sheath tumor located in the sino-nasal tract.

Association of trichilemmal and basal cell carcinomas: a case report.

Proliferating trichilemmal tumor (PTT) is a benign tumor arising from the isthmic portion of the hair follicle. Malignant transformation in PPT is very rare and unusual. Indeed, only about sixty well-documented cases have been found in the English literature. We present here the case of a 72-year-old patient with an exceptional combination of malignant trichilemmal carcinoma and basal cell carcinoma, occurring on actinic keratosis lesions. The aim of this work is to describe the diagnostic and therapeutic modalities of this association which is exceptional.