Unusual complications in the Churg-Strauss syndrome.
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Biomedical subjects
Publications and source records attributed to P Ablanedo.
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Skeletal brown tumours are relatively uncommon, and brown tumours that involve multiple bones are considered very rare. We describe a 29-year-old woman with chronic renal failure (CRF) who had undergone hemodialysis for 21 years and developed multiple brown tumours associated with severe secondary hyperparathyroidism. Computed tomography (CT) revealed multiple brown tumours involving scapula, ribs, spine and sacroiliac bone. Microscopic analysis of the brown tumour showed dense infiltration of the marrow space by reactive fibroblastic tissue with irregularly distributed multinucleated osteoclastic giants cells and marked increase in hematopoietic elements.
Chronic granulomatous disease is a group of syndromes which share a defect in a component of the phagocyte NADPH-oxidase complex. Without this enzyme activity, phagocytic cells cannot produce superoxide, peroxide, and other potent microbicidal radicals, and are less able to kill ingested pathogens. The clinical picture is characterised by recurrent life-threatening bacterial and fungal infections and abnormal tissue granuloma formation. On the other hand, amyloidosis is a systemic disease with renal involvement occurring in the majority of cases. Recurrent amyloidosis is a rare but well documented event in renal transplant recipients. However, graft loss secondary to amyloidosis has been noted infrequently. In addition, de novo amyloidosis has not been previously associated with graft loss. We report here a renal transplant recipient with chronic granulomatous disease and history of recurrent urinary tract infections, who developed nephrotic syndrome and progressive renal insufficiency secondary to de novo AA amyloidosis leading to graft loss 66 months after transplantation.
This report describes the parathyroid scan, computerized tomography and histologic findings in a young female hemodialysis patient with severe secondary hyperparathyroidism. These findings included hyperplasia and calcification of all four parathyroid glands.
OBJECTIVE: A case of idiopathic retroperitoneal fibrosis in a 34-year-old man with anemia and elevated erythrocyte sedimentation rate is presented. METHODS/RESULTS: Ultrasound, CT and MRI evaluation and pathological study were performed. These diagnostic imaging techniques demonstrated an infiltrating mass in the upper portion of the abdomen which was resected. Histological and immunohistochemical studies of the surgical specimen demonstrated sclerosing retroperitonitis. CONCLUSIONS: Idiopathic retroperitoneal fibrosis (Ormond's disease) is a rare disease entity whose etiology is obscure and is characterized by retroperitoneal fibrosis with inflammatory infiltrates composed of plasma cells, lymphocytes and eosinophils. This case is of interest due to its atypical location, and because the patient was young with no remarkable clinical history and only mild anemia and an elevated erythrocyte sedimentation rate.
We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.
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We found a variable defect of complex I of the mitochondrial respiratory chain, ranging in severity from 25% to 63% of control values, in muscle of patients with Huntington's disease (HD). The most severe defect was observed in the patient with the greatest expansion of CAG triplets. Muscle morphology showed myopathic changes such as moth-eaten fibers, angulated fibers, increased subsarcolemmal oxidative activities, or an increased number of enlarged mitochondria with abnormal cristae. Multiple mitochondrial DNA deletions were found by polymerase chain reaction (PCR) analysis in muscle of the patient with the most severe defect of complex I. Our data further support the involvement of energetic defects and oxidative damage in muscle of patients with HD.
Desmoplastic neurotropic melanoma represents a rare histologic variant of malignant melanoma that is characterized by a proliferation of spindle cells in a densely collagenous stroma with pronounced neurotropism. A 60-year-old man appeared for evaluation of a mass in the lower lip. The labial mucosa was intact, and the lesion had been present for 2 months. The tumor was surgically removed, and after immunohistochemical and ultrastructural analysis it was diagnosed as desmoplastic neurotropic melanoma. The tumor recurred 6 months later, with involvement of the inferior alveolar nerve.
AIMS: To study the loss of heterozygosity at the short arm of chromosome 3 in primary tumours from patients with squamous cell carcinoma of the head and neck; to determine whether the FHIT gene, mapped to 3p14.2 and the CTNNB1 (beta-cat) gene, mapped to 3p21, are deleted or mutated in these tumours. METHODS: DNA was extracted from fresh tumours. Loss of heterozygosity was assessed by microsatellite analysis of the following markers: D3S1283 and D3S1286 (3p24), D3S966 (3p21), and D3S1300 (3P14.2). Homozygous deletion was determined by radioactive multiplex polymerase chain reaction of exons 5 and 6 of the FHIT gene. The presence of mutations in FHIT exon 5 and beta-cat exon 3 was studied by single strand conformation polymorphism. RESULTS: 50% of informative cases (25/50) showed loss of heterozygosity for at least one of the 3p markers. 3p21 was the region with the highest rate of allelic deletion (63%). No point mutation was found in FHIT exon 5 or beta-cat exon 3. No case showed homozygous deletion for the FHIT (exons 5 and 6) or the beta-cat exon 3. CONCLUSIONS: The short arm of chromosome 3 is often deleted in the head and neck squamous cell carcinomas. In the remaining alleles of the FHIT or beta-cat genes, no evidence was found for point mutations or deletions, documented in other common carcinomas. Inactivation could occur by different mechanisms such as methylation, or other genes (not studied here) could be target of allelic losses in squamous cell carcinoma of the head and neck.
Inflammatory pseudotumor of spleen is an infrequent benign condition. It is difficult to differentiate, on a clinical and radiological basis, from haematologic neoplasms, granulomatous diseases as sarcoidosis and splenic hamartoma. Sometimes can be an incidental finding. Two women, aged 72 years, are presented. On the first case the sympthons mi micked a malignant disease. The second one was an incidental finding in a routine study for cholecystitis. Histological and immunohistochemical study showed a polymorphic cellular population including plasma cell, lymphoid cells, histiocytes, eosinophils and spindle cells, showing a reactive benign character. Plasma cells presented light chains polyclonality. Lymphoid cells were mature and with T inmunophenotype. Spindle cells were focally positive for muscle spe-cific actin and vimentine. In the first case, ultraestructural study showed myofibroblast morphology on the stromal spindle cells. Like many other authors have already postulated, immunohistochemical and ultraestructural findings would corroborate the mesenchymal reactive and benign nature of this type of lesions.
OBJECTIVE: To report on a rare case of primary leiomyosarcoma of the adrenal. To our knowledge, this is the fourth case reported in the literature. METHODS: A patient with primary leiomyosarcoma of the adrenal gland is presented. The clinical features are described, and the diagnostic and therapeutic aspects of this rare primary mesenchymal tumor are discussed. RESULTS/CONCLUSIONS: The aggressive nature and the poor prognosis of this rare tumor type are emphasized.
We report a case of primary duodenal carcinoma showing neuroendocrine and glandular differentiation, in a 65-years-old male. Both components were closely related and transition between them was observed. The neuroendocrine component was composed of an undifferentiated "oat-cell" type, with positive immunostaining for neuroendocrine and epithelial markers. Ultrastructural findings confirmed this double differentiation, with dense cytoplasmatic granules of neurosecretory type. The neuroendocrine component showed greater aggressiveness with lymph node metastasis.
OBJECTIVE: To demonstrate how the detection of p53 protein in formaldehyde-fixed, paraffin-embedded oropharyngeal carcinoma may be used as a factor in estimating prognosis. SETTING: University medical centers. DESIGN: Validation cohort. Formaldehyde-fixed, paraffin-embedded squamous cell carcinoma of the oropharynx tissues from 106 patients who underwent surgical therapy between 1975 and 1988 were immunostained by using M-7001 antibody (IgG class). RESULTS: Overexpression of p53 was observed in 46 tumors (43.4%). The detection of nuclear p53 was significantly associated with an increased risk of recurrence of oropharyngeal carcinoma (P = .05). Similar results were obtained when the presence or absence of p53 in the nuclei of the tumor cells was studied in relation to overall survival (P < .001). In a multivariate analysis stratified according to grade, pathological stage, and lymph node status, nuclear p53 status was an independent predictor of overall survival (P < .001). CONCLUSIONS: In patients with squamous cell carcinoma of the oropharynx, an accumulation of p53 in the tumor cell nuclei detected by immunohistochemical methods predicts a significantly increased risk of death, independent of tumor grade, stage, and lymph node status. The p53 overexpression appears to be a useful prognostic factor.
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A case of a female infected by HIV whose first manifestation was a focal defect of the motor function caused by a brain lesion shown in the CT scan and NMR as a hemispheric mass with discreet expansive effect and central necrosis. The histologic study showed a necrotic leukoencephalitis related to HIV as etiologic agent. We point out the difficulties in diagnosing and treating this disease.