Uncommon Thigh Mass in Neurofibromatosis Type 1: Unveiling Aggressive Epithelioid Sarcoma.

Background: Patients with neurofibromatosis type I (NF1) have an increased risk of developing soft-tissue sarcomas, particularly those related to the nervous system. Epithelioid sarcoma (ES) is an exceptionally rare subtype of soft-tissue sarcoma, with limited knowledge about its clinical presentation and optimal management in NF1. This report aims to provide insights into the characteristics and outcomes of ES in NF1 patients. Case description: A 37-year-old man with a history of NF1 presented with a progressively worsening mass on his right inner thigh. An MRI scan revealed a well-defined tissue mass originating from the adductor magnus muscle, later confirmed as ES through histopathology and immunohistochemistry. Considering poor local and general prognosis, the multidisciplinary team recommended salvage hip disarticulation, however the patient refused and opted for palliative marginal resection to reduce the tumour size. The patient's condition declined rapidly, and he succumbed six days after the surgery. Conclusion: This case highlights the rarity of ES in NF1 patients and underscores the potential for malignant tumour development in this population. Further research is needed to improve our understanding and management of sarcomas in the context of NF1. LEARNING POINTS: Patients with neurofibromatosis type 1 or von Recklinghausen's disease have a higher risk than those with other types of neurofibromatosis of developing benign or malignant soft-tissue tumours especially related to the nervous system.Epithelioid sarcoma is an extremely rare subtype of soft-tissue sarcoma and is exceptionally associated with neurofibromatosis type 1.A multidisciplinary approach remains essential in the diagnosis, management, and treatment of soft-tissue sarcomas in patients with neurofibromatosis type 1.

Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging.

Cockayne syndrome (CS) is a rare autosomal recessive disorder that affects the DNA repair process. It is a progeroid syndrome predisposing patients to accelerated aging and to increased susceptibility to respiratory infections. Here, we studied the immune status of CS patients to determine potential biomarkers associated with pathological aging. CS patients, as well as elderly and young, healthy donors, were enrolled in this study. Complete blood counts for patients and donors were assessed, immune cell subsets were analyzed using flow cytometry, and candidate cytokines were analyzed via multi-analyte ELISArray kits. In CS patients, we noticed a high percentage of lymphocytes, an increased rate of intermediate and non-classical monocytes, and a high level of pro-inflammatory cytokine IL-8. In addition, we identified an increased rate of particular subtypes of T Lymphocyte CD8+ CD28- CD27-, which are senescent T cells. Thus, an inflammatory state was found in CS patients that is similar to that observed in the elderly donors and is associated with an immunosenescence status in both groups. This could explain the CS patients' increased susceptibility to infections, which is partly due to an aging-associated inflammation process.

Femoral nerve paralysis complicating a post-traumatic iliopsoas haematoma.

Paralysis of the femoral nerve secondary to iliopsoas haematoma is a rare post-traumatic complication. Because of the large differential diagnosis, a high level of suspicion is required for its early recognition. Treatment modalities are controversial due to the rarity of this entity. An 18-year-old student presented with complete paralysis of the knee extensors and a sensory deficit on the anterior side of the thigh 5 weeks after a sport accident. MRI of the lesser pelvis showed an iliopsoas haematoma. Surgical decompression was performed and recovery was complete at 6 months of follow-up.

Solitary osteochondroma arising in lumbar spinous process: Case report.

Solitary osteochondromas rarely occur in the axial skeleton. Those tumors mostly arise on the posterior elements of the cervical column causing various symptoms especially when developing within the spinal canal. Exophytic lumbar variety is uncommon presenting with palpable mass or spinal deformity. We report a 20-year-old man presenting with a solid painless mass at the lower lumbar region. Radiological examinations revealed an exophytic lesion arising in the third lumbar spinous process appearing to be a solitary osteochondroma. The lesion was treated by en-bloc resection; histopathological examination confirmed the diagnosis of osteochondroma with no evidence of recurrence at the end of 2-year follow up.

[Diagnosis and treatment of Brodie's abcess in adults: about twenty cases]. / Diagnostic et traitement de l'abces de brodie chez l'adulte: a propos de vingt patients.

BACKGROUND: Brodie's abscess is a bone abscess described as a localized primary purulent collection with sclerotic wall. Since the first report of Sir Benjamin Brodie in 1832, many papers described different clinical and treatment aspects. Pathogeny and therapy still remain not clearly elucidated. AIM: The aim of our study is to describe clinical aspect and to study the result of treatment including surgery and antibiotics. METHODS: Our study is retrospective including 20 patients admitted to the author's institution for isolated bone abscess. The mean age of these patients is 30 years old (14 up to 46 years) with male predominance. Symptoms were chronic including localized pain with no systemic illness. The erythrocyte sedimentation rate was elevated in 2/3 of the cases. Roentegenogram was typical in 18 cases showing metaphysic cyst with sclerotic wall. Tibia was the most involved bone, 14 among 20 cases. Bacteriological study of the abscess pus isolated staphylococcus in 12 cases and pseudomonas in two cases. No organism was identified in the six remaining cases. Histopathological study showed chronic osteomyelitis with granulation including lymphocytes and plasma cells in all cases. Surgery and antibiotics were adequate for treatment in all cases. Our approach consisted in curettage without primary skin closure, cast immobilisation and antibiotics. RESULTS: Our patients were followed up over a median period of six years (8 months to 10 years). Overall, the results of treatment were good and in the long-term the abscess disappeared in all cases without recurrence. The erythrocyte sedimentation rate was normalized in 10 weeks and roentegenologically, the abscess disappeared progressively without osteomyelitis complication. CONCLUSION: According to our study, we believe that surgical treatment based on total excision of the bone collection and the sclerotic wall is the best method of therapy. As a matter of fact, healing was obtained without grafting in all cases and in the long-term follow up, abscess disappeared without recurrence and fistulisation.