Human eastern equine encephalitis: immunohistochemistry and ultrastructure.

The brain of a 7-year-old boy who died of eastern equine encephalitis (EEE) was examined by immunohistochemical and ultrastructural techniques to detect the presence and distribution of viral antigen. A mouse polyclonal antibody was most effective for demonstrating the presence of antigen previously unreported in this disease in humans. Antigen was localized to the perikaryon and dendrites of neurons; little was detected in glial cells. Cell death by apoptosis was conspicuous, but it was primarily identified in glial and inflammatory cells. Neuronal death was most commonly marked by cytoplasmic swelling or eosinophilia and nuclear pyknosis. A disassociation between the degree of inflammation and the presence of antigen was noted, especially in cerebral cortex and spinal cord, presumably where infected cells already had been cleared. Ultrastructurally, rare mature viral particles were seen in extracellular spaces.

Musculoaponeurotic fibromatosis (extraabdominal desmoid tumor) in a child with idiopathic multicentric osteolysis.

The fibromatoses are a group of benign proliferations of fibrous tissue with clinical behavior ranging from that of truly malignant tumors to that of benign reactive fibrous proliferations. Some of the superficial fibromatoses are fairly common, but the deep ones, also known as desmoid tumors or musculoaponeurotic fibromatoses, are rare. Idiopathic multicentric osteolysis is a rare skeletal disorder of childhood that causes progressive destruction of bones and renal failure. We recently saw a young girl with both extraabdominal musculoaponeurotic fibromatosis and idiopathic multicentric osteolysis. The classification, diagnosis, and treatment of the deep fibromatoses are reviewed, and the possible association between the minor bone changes occasionally reported in musculoaponeurotic fibromatosis and idiopathic multicentric osteolysis is discussed.

Endoscopic treatment of reflux: migration of Teflon to the lungs and brain.

We set out to determine experimentally whether particles of polytetrafluoroethylene migrate to the lungs and brain when relatively small volumes of Teflon paste are injected into the bladder in the manner used to correct reflux. Numerous particles of polytetrafluoroethylene were recovered from these organs within 2 weeks of injection. Those in the brain measured up to 15 microns in diameter, indicating that the pulmonary bed is an inefficient filter of particles gaining access to the venous circulation. Although clinically no adverse neurological effects have hitherto been reported, this study suggests that following the 'sting' procedure, some particles may lodge in the brain where they can block the cerebral microcirculation. We believe these findings represent a contraindication to the use of Teflon paste in children.

Demonstration of silicon in sites of connective-tissue disease in patients with silicone-gel breast implants.

BACKGROUND AND DESIGN: Silica, Silastic, and silicone (any organic compound in which silicon replaces carbon) have been associated with a number of connective-tissue diseases, most commonly systemic sclerosis (scleroderma). Silicone is known to leak from breast implants and spread to surrounding tissues, including lymph nodes, but silicone's role in the origin and pathogenesis of the inflammation and fibrosis related to such conditions remains controversial. Synovial tissue, alveolar macrophages, and skin, each from three different patients with silicone-gel implants, plus the breast implant capsules from each of the three patients, were examined by light microscopy, transmission electron microscopy, and electron probe microanalysis for the presence of silicon-containing material. RESULTS: Silicon was identified within the fibrous breast capsule of each case, associated with a chronic inflammatory cell infiltrate. Silicon was also identified within tissues involved by chronic inflammation and fibrosis, namely, synovium, skin, and alveolar macrophages, in association with clinical, serologic, and histologic evidence of connective tissue disease. All three patients improved after removal of the silicone-gel breast implants. CONCLUSIONS: The presence of silicon-containing material within sites of connective-tissue disease supports a role for silicon in the origin or pathogenesis of such conditions in patients with silicone-gel breast implants. All patients with connective-tissue disease should be questioned about exposure to various forms of silicon. In those patients with known exposure, tissue specimens should be examined carefully for silicon-containing material and, if found, the source should be removed.

Annular epidermolytic ichthyosis: a unique phenotype.

A 30-year-old white woman developed bullous and ichthyosiform skin lesions at the age of 8 months. Blistering ceased at puberty, but the hyperkeratotic plaques persisted. She subsequently delivered five children, two of whom were affected with a bullous type of ichthyosis. At the age of 27 years, she developed numerous annular and polycyclic, erythematous, hyperkeratotic plaques on the trunk and extremities that were pruritic, enlarged slowly, and then resolved. Histopathologic examination of these annular plaques revealed epidermolytic hyperkeratosis. Electron microscopic examination of the annular plaques showed interrupted perinuclear tonofilament rings consistent with either bullous ichthyotic erythroderma of Brocq or ichthyosis bullosa of Siemens. This kindred may represent a new phenotype of epidermolytic (acanthokeratolytic) ichthyosis.

Aspiration cytologic, ultrastructural, and DNA cytometric findings of solid and papillary tumor of the pancreas.

Solid and papillary epithelial neoplasm of the pancreas (SPENP) is a rare lesion characteristically occurring in young women. By contrast with pancreatic ductal adenocarcinomas, SPENP is a slow-growing tumor that rarely metastasizes or is fatal. The current report describes light and electron microscopic and histochemical findings with DNA flow cytometric analyses of two cases of SPENP. The first patient was a 24-year-old woman; the second, a 72-year-old man. Although SPENP is rare in older men, both patients had characteristic radiographic and light microscopic features of SPENP. Ultrastructural evidence of acinar differentiation was seen in the first patient; the second patient had focal neuroendocrine differentiation. Flow cytometric analysis of the first tumor demonstrated diploid-range DNA content with a 5.8% S-phase fraction (SPF). The DNA cytometric analysis of a biopsy specimen from the second tumor revealed diploid-range DNA content with a 6.1% SPF, although subsequent sampling of the resected tumor showed an aneuploid population with a DNA index of 1.8 and SPF of 2.1%.

Multiple rhabdomyomatous mesenchymal hamartomas of skin.

A case of multiple rhabdomyomatous mesenchymal hamartomas is presented. The patient is a black male infant, the product of an uncomplicated term gestation and delivery. At birth, there were numerous polyps distributed over the periorbital and periauricular areas bilaterally. Some appeared fingerlike with constrictions below their tips. Others were branched or globular in shape. These projections showed spontaneous and independent movement, particularly during feedings. On histopathologic examination, the polyps were covered by squamous epithelium and contained normal follicular units. Bundles of skeletal muscle were present in the reticular dermis, extending into the subcutis. Regular cross-striations were seen in these muscle fibers. In some specimens, the muscle bundles formed a solid, central core. Skeletal muscle histochemical stains confirmed the presence of both types 1 and 2 muscle fibers. Electron microscopy revealed a normal skeletal muscle banding pattern. This case is the first report of multiple rhabdomyomatous mesenchymal hamartomas of skin. Functional skeletal muscle with spontaneous movement is part of the clinical picture.

Scleroderma following augmentation mammoplasty. Report of a case and review of the literature.

A 46-year-old woman developed localized scleroderma after surgical manipulation of her silicone gel-filled breast prostheses. She developed firm, shiny plaques on her legs that progressed to involve the thighs. Histopathologic examination of a deep-skin biopsy specimen confirmed the diagnosis of scleroderma. On surgical removal of the silicone implants, and their replacement with saline-filled implants, the scleroderma gradually resolved. Histopathologic examination of the removed implant capsules revealed evidence of silicone leakage. All new female patients with scleroderma should be questioned and examined regarding augmentation mammoplasty. Until prospective studies are completed on the possible association between scleroderma and silicone breast implants, it would seem prudent to use the saline-filled, elastomeric envelope-type breast implant for augmentation mammoplasty rather than the silicone gel-filled implant.

Preschool sarcoidosis masquerading as juvenile rheumatoid arthritis: two case reports and a review of the literature.

Preschool sarcoidosis is characterized by the triad of skin, joint, and eye disease without pulmonary involvement. Arthritis and uveitis are also frequently seen together in juvenile rheumatoid arthritis. We report two patients with preschool sarcoidosis, both of whom were initially diagnosed and treated as having juvenile rheumatoid arthritis. Skin biopsy is an important early diagnostic procedure to differentiate the conditions. The uveitis in both diseases can have serious sequelae.

Pyoderma gangrenosum in pediatric acquired immunodeficiency syndrome.

We describe two children with human immunodeficiency virus infection in whom pyoderma gangrenosum developed. Although pyoderma gangrenosum most commonly occurs in children with inflammatory bowel disease, it has also been described in patients with a variety of immunodeficiencies. In such patients a vigorous search to exclude a treatable infection should be made before the lesions are treated as pyoderma gangrenosum.

Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency.

A 28-month-old black male died with severe complications of mental and motor deterioration, seizures, and aspiration. Autopsy demonstrated moderate liver enlargement, normal spleen and kidneys, small testes, and a grossly normal brain. Further examination showed irregular macrogyrae with evidence of a storage or sclerotic process. Thin layer chromatography of the lipids in formalin-fixed tissue demonstrated elevated levels of ceramide trihexoside and possibly sulfatides in liver and a decrease in the ratio of galactosylceramide to sulfatide in brain. Examination of the gangliosides in formalin-fixed brain indicated a slight increase in the percentage of GM1 ganglioside and a clear elevation in GM2 and GM3 gangliosides. Cultured skin fibroblasts had a normal activity for a large number of lysosomal enzymes including arylsulfatase A and galactocerebrosidase. When the cells were loaded with [14C]sulfatide only about 12% of the sulfatide was metabolized after 3 days. Extracts of the cells were subjected to SDS-PAGE and immunoblotting with antisphingolipid activator protein-1 (SAP-1) rabbit antiserum, and no cross-reacting material was detected confirming the diagnosis of metachromatic leukodystrophy caused by SAP-1 deficiency. This patient was clinically more severe than the other patients described previously with this deficiency. Further studies are underway to define the nature of the mutation in this patient.

D-penicillamine-induced elastosis perforans serpiginosa in a child with juvenile rheumatoid arthritis. Report of a case and review of the literature.

Elastosis perforans serpiginosa is a rare complication of D-penicillamine therapy. It has been reported to occur in Wilson's disease and cystinuria, usually after many years of high-dose therapy. We report a case of D-penicillamine-induced elastosis perforans serpiginosa with unique clinical features occurring in a 10-year-old child with juvenile rheumatoid arthritis who received only 71 gm of the drug over 9 months. The case is also unusual because of the short course and low cumulative dose of drug received and because of the calcification of elastic fibers. The calcification of elastic fibers suggests that this case may represent an unusual variant of elastosis perforans serpiginosa or an overlap with pseudoxanthoma elasticum. All reported cases of D-penicillamine-induced elastosis perforans serpiginosa are reviewed, and histopathologic and electron microscopic findings are presented. The theoretic mechanisms of action of D-penicillamine on elastic tissue synthesis and morphology are discussed.

Intracranial fibro-osseous lesion. Case report.

A rare tumor closely associated with the trigeminal ganglion produced a syndrome of atypical facial pain in a 44-year-old man. Two previous reports have designated similar tumors as "fibro-osseous lesions." The distinctive morphological appearance is illustrated and possible histogenesis discussed.

Solitary cervical intra- and extramedullary schwannoma.

A case of solitary cervical intramedullary schwannoma with an extramedullary extension is reported. This case demonstrates the difficulty of radiologic diagnosis of these tumours and the necessity for pre-treatment biopsy.

Cystic schwannoma of the trochlear nerve mimicking a brain-stem tumor. Case report.

A case is reported of a rare cystic schwannoma of the fourth cranial nerve which was interpreted as a probable intrinsic brain-stem lesion. The clinical approach to brain-stem tumors in terms of empirical treatment or surgical biopsy is discussed.