Intradural extramedullary cervical cavernoma.

Background: Spinal cavernomas (SCs) account for about 5% of all spinal vascular malformations. Intradural SCs occur in just 3% of cases and are typically intramedullary. Case Description: A 58-year-old female presented with progressive left occipital neuralgia, left cervicobrachial neuralgia, and paresthesia of all four extremities. The magnetic resonance imaging (MRI) revealed an intradural extramedullary C2-C4 lesion causing significant spinal cord compression. Gross total tumor excision was accomplished through a midline laminectomy pathologically; the lesion proved to be a cavernoma. The postoperative follow-up MRI obtained 4 months postoperatively showed complete tumor resection. Conclusion: A 58-year-old female successfully underwent gross total excision of a C2-C4 intradural extramedullary SC.

Facial Hyperpigmentation: A Rare Side Effect of Adalimumab.

This report describes a case of facial hyperpigmentation in a patient with Crohn's disease receiving adalimumab, a tumor necrosis factor (TNF)-alpha inhibitor. The onset of hyperpigmentation coincided with adalimumab administration, and its discontinuation resulted in significant improvement. Histopathological findings suggest a postinflammatory process at the dermo-epidermal junction. However, the precise mechanism remains unclear.

Intracranial inflammatory pseudotumour related to IgG4: A very rare case.

Background: Intracranial inflammatory pseudotumours (IPT) are rare entities that frequently lead to misdiagnosis with malignant lesions. The identification of these lesions is difficult, but important to avoid inadvertent iatrogenicity and to adjust therapeutic protocols. Case Presentation: We report the case of a 30-year-old man who presented a single tonic-clonic seizure. Brain imaging showed a right frontal lesion with intra and extra axial components. Facing the radiologic presentation, a brain tumor was suspected, thus the patient underwent surgery. Pathological exam concluded to a plasma cell granuloma. A whole-body CT-scan showed only a thoracic aortitis. Complete blood work studies came back negative. The patient was also tested for an array of antibodies among which antinuclear antibodies were positive (blood level superior to 1/100). CSF evaluation revealed clear fluid with normal glucose concentration, normal protein levels and lymphocytic pleocytosis. Finally, IgG-4 plasma levels were elevated which led to the diagnosis of an IgG4-RD. The patient was put under prednisolone with a favorable outcome. Conclusion: IPT have several etiologies, among which IgG4 related disease may be one of the less known as only 2 cases have previously been reported. Herein, we report a new case of a young man who presented for seizures related to an intracranial lesion of an IgG4 related disease. The challenge is to suspect such conditions to avoid unnecessary surgeries.

Overlap syndrome of seronegative primary biliary cholangitis and small duct primary sclerosing cholangitis: a first case report and literature review.

Primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), and autoimmune hepatitis (AIH) are distinct liver diseases. Cases combining PBC and PSC, are extremely rare. Here, we present a case of a 39-year-old woman with a history of colonic Crohn's disease treated with azathioprine. Discontinuation of the medication was prompted by abnormal liver function tests, but subsequent evaluations revealed persistent liver injury. Extensive diagnostic investigations, including imaging, serological tests, and liver biopsy, were conducted leading to a diagnosis of PBC-PSC overlap syndrome based on the presence of concentric lamellar fibrosis and chronic non-suppurative destructive cholangitis. The patient responded well to ursodeoxycholic acid treatment. This case emphasizes the importance of recognizing and diagnosing rare overlap syndromes, particularly those involving PBC and PSC, to ensure appropriate management and improve patient outcomes.

Lumbar spine epidural meningioma: report of a rare case.

INTRODUCTION AND IMPORTANCE: Spinal meningiomas are typically intradural lesions. Some may infiltrate the dura mater, thus exhibit direct extradural extension. Pure spinal epidural meningiomas are very rare. Here we present a 64 year-old-male with a purely extradural meningioma, and reviewed 15 previously reported cases from the literature. CASE PRESENTATION AND CLINICAL DISCUSSION: A 64-year-old male presented with a progressive cauda equine syndrome. When Lumbar spine MRI showed two extradural lesions regarding the L3-L4 level, one was fully removed (i.e., the posterolateral lesion), while the other anterior lesion was left alone (i.e., to avoid potential neurologic sequelae). Pathologically, the lesion was a benign meningioma. CONCLUSIONS: Spinal epidural meningiomas are rare and should optimally be fully excised at the index surgery.

Calcifying pseudoneoplasm of the neuraxis (CAPNON): Unraveling a rare non-neoplastic calcified central nervous system lesion.

INTRODUCTION AND IMPORTANCE: Calcifying pseudoneoplasms of the neuraxis (CAPNON) are infrequent benign brain tumors. They demonstrate slow growth and are characterized by calcium deposits within the tumor tissue. CAPNONs are observed in the supratentorial compartment of the brain. Due to their rarity, increasing knowledge of CAPNONs is essential for accurate diagnosis and effective management of affected patients. This report describes a case of CAPNON diagnosed in a 56-year-old female and discusses the clinical, imaging, and histopathological findings of this rare entity. CASE PRESENTATION: A 56-year-old female presented with a history of recurrent holocranial headache and dizziness, progressively worsening over the last month. Physical and neurological examinations revealed no evident abnormalities. Brain magnetic resonance imaging revealed a calcified and cystic mass, measuring 40 × 32 mm in the right frontal lobe. Complete excision of the mass was done. Histologically, the lesion was composed of glial tissue with abundant amorphous lamellar calcification and a myxoid matrix in the background. Concentric circular calcifications were observed with osseous metaplasia present in some areas. Palisading spindle to epithelioid cells was noted around the lesion. The final diagnosis was CAPNON. The postoperative course was uneventful, and one year of follow-up revealed no signs of recurrence. DISCUSSION: CAPNON typically occurs in middle-aged adults and can present with variable symptoms depending on its location within the brain, including seizures, headaches, or neurological deficits. Surgical resection is considered the optimal treatment for CAPNON. Raising awareness and understanding of this rare entity is necessary for accurate diagnosis and management of patients affected by this condition.

Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia.

Rapp-Hodgkin syndrome (RHS) is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. Palmoplantar keratoderma (PPK) is an unusual manifestation of hidrotic ED. Ulcerations on the palms are also not common in RHS. We describe a 15-year-old boy who has RHS associated with PPK.

Case of delayed diagnosis of necrolytic migratory erythema.

Necrolytic migratory erythema (NME) is a rare cutaneous paraneoplastic manifestation of glucagonoma. We report a case of a woman with a 6-year history of delayed diagnosis of glucagonoma. This case highlights the atypical clinical features of NME which makes the diagnosis difficult.

Comparative expression profile of CD10 and cyclin D1 in cutaneous histiocytofibroma and dermatofibrosarcoma.

Dermatofibrosarcoma protuberans (DFSP) and histiocytofibroma (HF) are two rare fibrohistiocytic tumors, with some overlapping pathologic features. Immunohistochemistry is very useful in these cases. CD34 is a commonly used marker. However, the increasing cases of CD34 negative DFSP make it pressing to test other immunohistochemical markers that could help in the differential diagnosis. DFSP is known to harbor COL1A1-PDGFB rearrangement. Tumors in the differential diagnosis of DFSP usually lack this molecular signature. Recent studies suggested the interaction of PDGFB and PDGF receptor b with various signaling pathways, including the Akt-mTOR pathway. Cyclin D1, one of the oncoproteins activated in this pathway, may represent a promising useful biomarker in the differential diagnosis. On the other hand, CD10 expression in specialized mesenchymal skin cells, and especially in fibrohistiocytic skin tumors has been reported, which raises the interest of using this biomarker in HF and DFSP. In this study, we aimed to compare the expression of CD10 and cyclin D1 in 15 cases of DFSP and 15 cases of HF and discuss their potential contribution in the differential diagnosis.

Involution of classic Kaposi sarcoma lesions under acitretin treatment Kaposi sarcoma treated with acitretin.

Acitretin, indicated for generalized pustular psoriasis, was effective in concomitant classic Kaposi sarcoma.

Unexpected skin lesions secondary to metastasis of urothelial carcinoma.

INTRODUCTION: Metastatic spread of urothelial bladder carcinoma (UBC) rarely involves the skin which is associated with a poor prognosis. We present a rare case of UBC with cutaneous metastases which is exceptional by its inflammatory clinical form. PRESENTATION OF CASE: A 62-year-old male was diagnosed with a non-metastatic muscle invasive transitional cell bladder carcinoma invading the anterior wall of the rectum. Cisplatin-based chemotherapy was indicated but refused by the patient. Three months later, he developed cutaneous lesions in the left axilla and the right inguinal fold. These lesions were budding, nodular and inflammatory corresponding to carcinomatous metastasis on skin biopsy which urothelial origin was confirmed by immunohistochemical analysis. The patient died four weeks later after multi-organ failure. DISCUSSION: Skin metastasis of transitional cell carcinoma of the bladder are uncommon, representing 0.84% of all cutaneous metastases. The inflammatory presentation, as seen in our case, is rarer than the other types and is usually due to a lymphatic extension. The clinical appearance of cutaneous metastases might mimic other common dermatologic disorders; Thus, diagnosis requires histological confirmation by microscopic examination and immunohistochemical study of a skin biopsy. The prognosis after the appearance of cutaneous metastases is generally poor with a median disease-specific survival of less than 12 months Treatment is palliative and is principally based on chemotherapy, analgesics and psychological support. CONCLUSION: Cutaneous metastases secondary to urothelial bladder carcinoma are exceptional especially in its inflammatory presentation. Diagnosis is based on immunohistochemical study. Treatment is based on chemotherapy and the prognosis is poor.

Papillary thyroid tumors: Diagnostic value of CD56 and Cytokeratin 19.

INTRODUCTION: Noninvasive Follicular Thyroid Neoplasm With Papillary-like Nuclear Features (NIFTP) is a tumor composed exclusively of follicles lined by cells having nuclear characteristics of papillary carcinoma. Morphological diagnosis is often difficult especially in the cases in which these nuclear abnormalities are focal. AIM: To investigate the contribution of the immunohistochemical study with anti CD56 and anti cytokeratin 19 in the positive diagnosis of NIFTP. METHODS: This is a diagnostive, retrospective study of 40 thyroid specimens including 15 NIFTP, 10 classical form papillary carcinoma (CPC) and 15 vesicular adenomas (AV), collected over a period of eighteen months (December 2013-May 2015). RESULTS: Negativity with anti-CD56 was noted in 16 cases: 9 cases of NIFTP and 7 cases of CPC. A diffuse staining was noted in 14 cases of AV. Positivity with anti-Cytokeratin19 was noted in 38 cases: 14 NIFTP, 10 CPC and 14 AV. For the diagnosis of NIFTP, the sensitivity of CD56 was 60% and specificity of 100%. The sensitivity of the Cytokeratin 19 was 93,3 % and specificity of 33,3%. CONCLUSIONS: Considering the good sensitivity and specificity of the CD56, it is possible to apply immunohistochemistry for definitive diagnosis of NIFTP and to differentiate it from adenoma. The cytokeratin 19 does not have a big contribution to distinguish between benign and malignant lesions.

Intracranial grade I meningiomas: Confrontation between histological examination and magnetic resonance imaging.

INTRODUCTION: Meningiomas are tumors derived from arachnoid cells. More than 90% of cases have a benign clinical course and are classified as grade I according to the World Health Organization. A confrontation between radiologic findings and pathological examination is necessary to predict the grading of meningiomas. OBJECTIVES: To study the radiological presentation by magnetic resonance imaging (MRI) and pathological features of intracranial meningiomas grade I. METHODS: This was a retrospective descriptive study of a series of 35 cases of grade I meningiomas. A review of MRI images was performed in this study. RESULTS: Our series consisted of 25 female and 10 male patients with a mean age of 49.2 years.The tumor was localized at the base of the skull in 20 cases (57.14%). The average size was 49 mm. At MRI, all meningiomas were solid showing enhancement after injection of contrast agent. This enhancement was homogeneous in 21 cases and heterogeneous in 14 cases. The edema was broad and extended in 15 cases, reduced in 8 cases and absent in 12 cases. The mean minimum apparent diffusion coefficient was 0.77 and the mean maximum average diffusion coefficient was 0,8. On histological examination, the meningioma was of meningotheliomatous type in 23 cases (65.7%), fibroblastic in 8 cases (22.9%), transitional 3 cases (8.6%) and angiomatous in one case (2,8%). CONCLUSION: Although the final diagnosis of meningioma is mainly based on pathological examination, comparison with imaging is also important to orient the pathologist.

Tumor budding is a prognostic factor linked to epithelial mesenchymal transition in pancreatic ductal adenocarcinoma. Study report and literature review.

BACKGROUND: Pancreatic ductal adenocarcinoma (PDAC) has a devastatingly poor prognosis. Surgical resection is undertaken in only 20% of patients. Most of well-known prognostic factors reflect tumor stage more than its biology. So it is important to identify new biological indicators related to survival in order to develop new therapies. OBJECTIVE: To determine the relation between tumor budding and Epithelial Mesenchymal Transition (EMT) and to evaluate their impact on survival for patients after resection of PDAC. METHODS: We herein report a retrospective study of 50 patients with resected PDAC. Tumor budding, immunohistochemical expression of vimentin and other standard factors were correlated with survival using the Kaplan-Meier method and Cox multivariable survival analysis. For tumor budding assessment, an inter-observer variability study was performed using 100 images of tumor slides stained with Hematoxylin & Eosin and Pan-Cytokeratin. RESULTS: Tumor budding was present in all tumors. A substantial agreement between six pathologists was established in distinguishing high-grade from low-grade budding (κ = 0.6 and 0.73 for H&E and PCK images respectively). High-grade budding was identified in 56% of tumors (28/50). It was an adverse prognostic factor independent of tumor size, resection margins status, nodal status and vascular invasion (p = 0.008). Tumor budding was significantly associated with vimentin expression (p = 0.002). CONCLUSIONS: The association of tumor budding with vimentin expression supported the idea that EMT is a key process in PDAC responsible for progression and drug resistance. Consequently, the elucidation of EMT molecular biology and development of new targeted therapy may improve disease outcome.

Neuroendocrine differentiation in basal cell carcinoma.

Basal cell carcinoma (BCC) is the prototypical basaloid tumor of the skin. It may show various patterns simulating other cutaneous tumors due to its pleomorphism. It may have an unusal pattern of differentiation such as squamous, sebaceous, apocrine, eccrine, pilar, and endocrine differentiation. In order to establish the relative frequency of neuroendocrine differentiation in BCC, we performed a retrospective study of 33 consecutive BCCs using conventional immunohistochemistry with two neuroendocrine antibodies: Chromogranine A and synaptophysine. The age of the patients ranged from 17-83 years with mean of 65 years. The male to female ratio was 16:17. In immunohistochimestry, Chromogranine A was seen in 72.2% (24/33) while Synaptophysine was positive in 9.09% (3/33). Their expression was cytoplasmic and membranous and was seen in the periphery of these tumors in the overlying cells. Positive staining of chromogranine A was high (75-100% of tumors cells) in 9%, intermediate (25-75% of tumors cells) in 33% of cases and relatively low (<25%) in 30.3% of cases.