Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.

Background: Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance. Affected fetuses may be identified by prenatal ultrasound or diagnosed at autopsy in case of perinatal death or pregnancy termination.

Methods: We describe the ultrasonographic, autopsy, and molecular findings in a 25-week-gestation affected fetus, and review the clinical, prenatal, and postmortem findings in 15 previously reported fetal and perinatal cases.

Hemolytic-uremic syndrome, malignant hypertension and IgA nephropathy: successful treatment with plasma exchange therapy.

A young patient with hemolytic-uremic syndrome and malignant hypertension with serious deterioration of renal function is described whose biopsy specimen showed additional IgA mesangial deposits. The patient responded to steroid treatment and to plasma exchange therapy without the need of hemodialysis sessions. In the following years, he achieved clinical remission and his blood pressure was in normal ranges without any further complications.

Immunohistochemical evaluation of podocalyxin expression in glomerulopathies associated with nephrotic syndrome.

It is now well established that morphological change of podocytes is closely correlated to the development of proteinuria. The aim of this study was to investigate the role of podocalyxin, a major podocyte protein, in the pathogenesis of glomerulopathies primarily associated with the nephrotic syndrome. Immunohistochemical expression of podocalyxin has been evaluated in 51 renal samples, including healthy controls, patients with podocytopathies (minimal change disease [MCD], focal segmental glomerulosclerosis [FSGS]) and membranous glomerulopathy (MG).

IgA nephropathy in association with Crohn's disease: a case report and brief review of the literature.

A case of immunoglobulin A nephropathy (IgAN) complicating a 10-year history of biopsy-proven Crohn's disease in a 31-year-old man is described. The patient presented with mild proteinuria and impaired renal function in the setting of an exacerbation of Crohn's disease. Renal biopsy showed IgAN.

Membranoproliferative glomerulonephritis in the setting of multicentric angiofollicular lymph node hyperplasia (Castleman's disease) complicated by Evan's syndrome.

Systemic Castleman's disease is a lymphoproliferative disorder with various clinical presentations and incompletely understood aetiology. The authors report on a rare case of the plasma cell variant of Castleman's disease associated with autoimmune haemolytic anaemia and autoimmune thrombocytopenia (Evan's syndrome) and complicated by mixed nephrotic-nephritic syndrome and acute renal failure due to an underlying glomerulopathy with microscopic and immunofluorescence findings suggestive of membranoproliferative glomerulonephritis (MPGN) type I. Immunocomplexed glomerulonephritis is rare in Castleman's disease, while, to the best of our knowledge, constellation of all these autoimmune phenomena is reported for the first time suggesting that apart from the putative role of VEGF and IL-6 in the pathogenesis of the disease, a more generalised immunological disturbance occurs, probably through autoantibodies induced by active polyclonal B cells raised from Castleman's disease tumour.

Membranous nephritis associated with acquired cytomegalovirus infection in a 19-month-old baby.

Membranous nephritis (MN) is a rare form of glomerulonephritis in childhood, with an incidence of 0.8 to 6.7% based on renal biopsy specimens.

Association between microvessel density and histologic grade in renal cell carcinomas.

Angiogenesis seems to contribute to tumor growth and the development of metastases. There may be an association between the vascular density of individual tumors and their prognosis. In the present survey we studied 53 cases of renal cell carcinoma investigating possible relationship between histologic grade and microvessel density (MVD) measured by an image analysis system.

Ichthyosis follicularis with alopecia and photophobia in a girl with cataract: histological and electron microscopy findings.

A rare congenital ectodermal disorder characterized by ichthyosis follicularis, alopecia and photophobia has been designated the acronym IFAP. An X-linked recessive mode of inheritance was initially proposed but a few recent reports in girls suggested genetic heterogeneity of this syndrome. We herein describe a 3-year-old girl with clinical and histological features typical of IFAP.