Protuberant fibro-osseous lesion of the temporal bone: report of four cases and review of the literature.

'Bullough lesions', also referred to as protuberant fibro-osseous lesions (PFOL), are rare temporal bone lesions initially described in 1999. Since only 12 cases have been reported, several key issues, such as their origin and recommended management strategies, remain unresolved. This article reports the largest cohort included in the literature to date, comprising four patients with PFOL. PFOL appears to be characterized by female and right-side predominance. These lesions were consistently located regarding the mastoid, generally diagnosed in early adulthood, without functional symptoms, and were always fibro-osseous. Invasive/malignant features were not found on imaging or histology. The main differential diagnosis was malignant low-grade parosteal osteosarcoma. Clinical examination and computed tomography images provided strong elements supporting the diagnosis of PFOL. Biopsy allowed molecular biology investigations (MDM2 and CDK4 amplification), in order to rule out low-grade parosteal osteosarcoma.

Early presentation in ameloblastic fibroma.

Ameloblastic fibroma are rare mixed tumors composed by both epithelial and mesenchymal tissues. They mostly affect the posterior mandibular sector in young adults. Here we report an atypical case affecting a very young patient in an unusual localization. We describe the management of the case and discuss the origin of this little know lesion.

Rhabdomyosarcoma an ubiquitous pediatric tumour.

Rhabdomyosarcoma is the most common soft tissue tumor in children. It occurs everywhere and its prognosis depends on the location and its histological type--embryonic or alveolar. The new immunohistochemical markers desmin and myogenin in combination with molecular biological detection of specific translocations in alveolar rhabdomyosarcoma improved diagnostic capacities. Less aggressive treatment in curable cases reduces the undesirable outcomes of therapy.

Neonatal hyperinsulinism: clinicopathologic correlation.

Neonatal hyperinsulinism is a life-threatening disease that, when treated by total pancreatectomy, leads to diabetes and pancreatic insufficiency. A more conservative approach is now possible since the separation of the disease into a nonrecurring focal form, which is cured by partial surgery, and a diffuse form, which necessitates total pancreas removal only in cases of medical treatment failure. The pathogenesis of the disease is now divided into K-channel disease (hyperinsulinemic hypoglycemia, familial [HHF] 1 and 2), which can mandate surgery, and other metabolic causes, HHF 3 to 6, which are treated medically in most patients. The diffuse form is inherited as a recessive gene on chromosome 11, whereas most cases of the focal form are caused by a sulfonylurea receptor 1 defect inherited from the father, which is associated with a loss of heterozygosity on the corresponding part of the mother's chromosome 11. The rare bifocal forms result from a maternal loss of heterozygosity specific to each focus. Paternal disomy of chromosome 11 is a rare cause of a condition similar to Beckwith-Wiedemann syndrome. A preoperative PET scan with fluorodihydroxyphenylalanine and perioperative frozen-section confirmation are the types of studies done before surgery when needed. Adult variants of the disease are less well defined at the present time.

[Antiglomerular basement disease in children: Literature review and therapeutic options]. / Syndrome de Goodpasture et maladie des anticorps anti-membrane basale chez l'enfant : revue de la littérature.

Antiglomerular basement membrane glomerulonephritis is a rare autoimmune disease characterized by rapidly progressive glomerulonephritis that may be associated with pulmonary hemorrhage (Goodpasture syndrome). The disease is caused by autoantibodies (classically IgGs) directed against the α3 subunit of type IV collagen. This is a rare disease in the adult population and extremely rare in children, with a reported cumulative annual incidence at 1/106 people/year. Among scarce reported pediatric cases (n=31), most are girls (M/F sex ratio, 1:4), and the mean age at diagnoses is 9.2±4.6 years. A medical diagnosis is an emergency and is based on the identification of specific antibodies in the serum, and pathognomonic linear fixation of IgGs along the glomerular basement membrane. Without appropriate treatment, the disease is generally fulminant, and patient and kidney survival is poor. Indeed, glomerular function strongly correlates with histological lesions. The current guidelines recommend the use of plasma exchanges and immunosuppressive drugs. For the past few years, alternative therapeutics such as specific anti-B-cell antibodies (rituximab) or specific extrarenal cleansing such as immunoadsorption have been successfully used in adults. Immunoadsorptions (IAs) can remove pathogenic IgGs from the circulation and do not require plasma infusions, contrary to plasma exchanges. In this review, we discuss the key points of antiglomerular basement membrane glomerulonephritis diagnosis and conventional or alternative therapeutics.

Cellulitis revealing a cryptococcosis-related immune reconstitution inflammatory syndrome in a renal allograft recipient.

Immune reconstitution inflammatory syndrome (IRIS) has rarely been described in the course of disseminated cryptococcosis in solid organ transplant recipients. We report here the case of a renal transplant recipient who developed severe cellulitis in the context of Cryptococcus neoformans-associated IRIS while undergoing reduction of his immunosuppressive therapy. IRIS appeared concomitantly with a dramatic increase of blood CD4+ T cells (94-460/mm(3)) and required the administration of a short-term steroid therapy to resolve.