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.

Bladder endometriosis: A serious disease.

Urinary tract endometriosis (UTE) is a very rare but serious form of infiltrating endometriosis because of the risk of urinary tract obstruction and loss of renal function. We report the case of A 42-year-old female patient admitted for intense right back pain with lower urinary tract disorders. An abdomino-pelvic ultrasound was done showing right uretero-hydronephrosis. Ureteroscopy showed an inflammatory-like stenosis of the right pelvic ureter. Given the young age of the patient, the poor quality of the right kidney, we opted for a right total nephro ureterectomy. The anatomopathological examination showed a bladder endometriosis .

Localized scleroderma with pulmonary arterial hypertension and pulmonary interstitial fibrosis in a patient with positive Th/to antibodies: Case report and review of literature.

Morphea is an auto-immune disease, and its association with other immune-mediated diseases should not come as a surprise. Dermatologists should be aware of its possible coexistence with severe systemic involvement.

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.

A multilobulated asymptomatic umbilical nodule revealing endometriosis.

Primary umbilical endometriosis is unusual clinical presentation of endometriosis. Its diagnosis can be challenging due to lack of knowledge. This condition should be listed in the differential diagnosis of umbilical disorders.

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.