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PubMed1988

Amaurosis fugax in teenagers. A migraine variant.

Sudden, transient loss of vision in one eye (amaurosis fugax) is associated frequently with atherosclerosis of the internal carotid artery in adults and may herald a stroke. Thus, cerebral angiography is often performed. Amaurosis fugax in children is uncommon and an underlying cause is rarely demonstrated. Recurrent episodes of amaurosis fugax occurred in five adolescents. A characteristic evolution and pattern of visual loss, consistent with choroidal ischemia as the underlying mechanism, was described by four of them. Although none of the episodes were accompanied by headache, four patients had a history of common migraine at other times or a family history of migraine. These episodes of visual loss may represent a migraine variant, and cerebral angiography is not indicated in adolescents with such a history.

Adolescent↗
PubMed2000

Mannose-binding lectin and rheumatoid arthritis in southern Chinese.

OBJECTIVE: Insufficiency of mannose-binding lectin (MBL) is associated with recurrent infections. Rheumatoid arthritis (RA) may represent an aberrant immune response to infections. This study examined the phenotypic expression and variant alleles of the MBL gene and its etiologic role in Chinese with RA. METHODS: We studied 211 RA patients and 196 healthy subjects. Serum MBL concentrations and codon-54 mutation of the MBL gene and its promoter polymorphisms were analyzed. Clinical characteristics and disease activity were also examined. RESULTS: Patients with RA had significantly lower serum MBL levels and higher frequency of codon-54 mutation of the MBL gene compared with controls. Additionally, there was a significant difference in the distribution of promoter polymorphisms, H/L, between RA patients and controls, although the frequencies of Y/X and those of nonstructural polymorphisms, P/Q, did not differ between the 2 groups. Furthermore, patients with RA had a lower incidence of the highest-producing haplotype HY and a higher incidence of the lowest-producing haplotype LX compared with controls. Serum MBL levels did not correlate with drug treatment or with disease activity. However, patients with erosive and serious extraarticular disease had significantly lower serum MBL levels than those without these disease manifestations at the time of study. Also, significantly more patients with erosive disease had a codon-54 mutation of the MBL gene compared with those with nonerosive disease. CONCLUSION: The codon-54 mutation and low-producing promoter polymorphisms of the MBL gene are associated with RA. A low serum level of MBL predisposes to the development of RA and is a risk factor for severe disease in southern Chinese.

Arthritis, Rheumatoid↗
PubMed2002

Hepatic intraductal oncocytic papillary carcinoma.

BACKGROUND: There has been an increasing incidence and mortality from peripheral cholangiocarcinoma (PC) in the United States over the past 24 years. PC has been classified into two principal types, a mass-forming type and a periductal-infiltrating type, with a significant difference in the clinical behavior between the two. A third type, demonstrating a noninvasive intraductal growth of PC, was described as papillary PC. Rarely, papillary hepatic tumors composed of oncocytic cells have been described. Intraductal oncocytic papillary carcinomas (IOPCs) of the liver present as large, mucin-filled, cystic lesions lined by noninvasive or focally microinvasive oncocytic tumors. METHODS: From June 1999 to August 2001, three patients with hepatic IOPCs were identified in the files of the Hepatobiliary Service, Department of Surgery, and the Department of Pathology at Memorial Sloan-Kettering Cancer Center. They form the basis of this study. We report the clinicopathologic presentation, as well as the outcome, with a review of the literature. RESULTS: All three cases presented with well defined intrahepatic cystic masses ranging in size from 7.2 to 21.1 cm. The most prominent cells of the lining epithelium were columnar with oncocytic features showing abundant eosinophilic granular cytoplasm and centrally located nucleoli. All three patients underwent resection with one demonstrating local bile duct recurrence that was managed with stenting. Review of the literature has identified 39 patients with papillary PC and 2 patients with IOPC. The biology of these reported cases has been variable with overall survival better than that of nonpapillary PC patients, with recurrence in 15% of the reported cases. CONCLUSION: Papillary PC is a rare type of cholangiocarcinoma that includes an interesting variant: IOPC. These tumors are predominantly found in men, who present with large (> 5 cm) mucinous cystic lesions of the bile duct. A noninvasive histology is seen, and long-term survival may be achieved with complete resection. Invasive variants of IOPC have been reported in the literature and have a worse overall prognosis.

Adult↗
PubMed1993

Intracranial myxopapillary ependymoma: case report.

The authors report an unusual case of a myxopapillary ependymoma arising from the lateral ventricle. The patient, a 37-year-old woman, developed recurrent symptoms including scotomata, disorientation, and headache during two successive pregnancies before the definitive diagnosis. The causes of this ependymoma variant and its relationship to pregnancy are discussed.

Adult↗
PubMed1992

Aggressive angiomyxoma of the vulva.

A case of aggressive angiomyxoma (AAM) of the vulva is presented. The tumor presented as a slowly growing polypoid mass in the right labium minus near the clitoris. The tumor was treated by wide local excision. The microscopic appearance was that of spindle-shaped neoplastic cells widely separated by a loose myxoid stroma rich in collagen fibers, hyaluronic acid, and prominent irregular-shaped blood vessels. Aggressive angiomyxoma of the vulva must be distinguished from the more common benign and malignant myxoid tumors including myxoma, myxoid liposarcoma, myxoid variant of malignant fibrous histiocytoma, sarcoma botryoides, nerve sheath myxoma, and other soft tissue tumors with secondary myxoid changes. Local recurrence of AAM may be avoided by wide local excision.

Adult↗
PubMed2000

Hereditary angioedema with normal C1-inhibitor activity in women.

BACKGROUND: Hereditary angioedema (HAE) is a well defined autosomal dominant disease (Mendelian Inheritance in Man #106100) that results from an inherited deficiency of C1 (the activated first component of complement) inhibitor function. We report an unusual variant of HAE with normal biochemical C1-inhibitor function, occurring only in women. METHODS: We screened 574 patients with recurrent angioedema of the skin for presence of HAE. 283 patients were selected, in whom angioedema was associated with abdominal pain attacks or recurrent life-threatening episodes of upper-airway obstruction, or both, rather than with urticaria. We measured C1-inhibitor concentration and functional activity as well as complement C4 concentration and took pedigrees to characterise patients. FINDINGS: 94 HAE cases with C1-inhibitor deficiency, positive family history, or both were identified. Biochemical testing showed that 84 patients from 49 families had a functional C1-inhibitor deficiency. 11 of these patients had no affected family members (probably representing de-novo mutations). Ten women with HAE, from ten families, had normal C1-inhibitor protein concentrations and function, and normal C4 concentration. A more detailed study of these families identified another 26 affected members, who were also all women. Of those women, 14 could be studied and also had normal C1-inhibitor concentration and function. The disease was seen in successive generations, and in offspring of affected mothers, the sex ratio (M/F) was shifted to 1/1.5. INTERPRETATION: HAE with normal C1-inhibitor concentration and function represents a unique genetic disease arising only in women. The formal genetics of this entity are suggestive of an X-linked dominant mode of inheritance. For this disorder we propose the term hereditary angioedema type 3 (HAE III).

Abdominal Pain↗
PubMed2003

What can we expect from dose escalation using proton beams?

It has been demonstrated without doubt in the literature, including elsewhere in this issue, that much better conformal dose distributions in radiation therapy can be obtained with proton beams than with photons (X-rays) or electrons. It is also clear that this remains entirely true--for the fundamental reason of particle range--even after the latest and projected developments in computer-generated IMRT (intensity-modulated radiation therapy) photon dose escalation are fully considered. We consider several examples of tumour dose-response curves that illustrate the quite large gains to be obtained when dose escalation can be achieved, if normal tissue complications can also be avoided. Two contrasting types of tumour are considered in detail, prostate tumours and non-small-cell lung carcinomas. There is a considerable way to go yet to achieve really high non-recurrence rates, especially in the lung tumours. Proton beams would make this progress much safer and more effective than any variants with photons.

Carcinoma, Non-Small-Cell Lung↗
PubMed2001

Merkel cell carcinoma: squamous and atypical fibroxanthoma-like differentiation in successive local tumor recurrences.

Merkel cell carcinoma (MCC) is a rare, frequently lethal, primary neuroendocrine carcinoma of the skin. Histopathologically, it appears as a dermal nodule of small, undifferentiated malignant cells. Historically, MCC was considered to be an eccrine carcinoma. Recognition of its neuroendocrine features later led to the hypothesis that it arose from Merkel cells in the skin, although recent evidence revisits the question of an epithelial origin. We present a case of MCC arising on the temple of a 78-year-old male, in association with an actinic keratosis. Three years later, a local tumor recurrence showed a mixed malignancy comprising small cell neuroendocrine and large cell squamoid components. A further recurrence at the site two years later, after local radiotherapy, revealed a bizarre pleomorphic large cell morphology with retention of immunohistochemical features of a neuroendocrine carcinoma. Evolution to a bizarre pleomorphic large cell neoplasm has been recorded in malignant tumors treated by radiotherapy, but is unique for MCC. The association of this MCC with an actinic keratosis and the development of squamoid differentiation in a local recurrence support the link between MCC and epithelial neoplasia. In addition, its evolution to an atypical fibroxanthoma-like morphology is of interest, because some view atypical fibroxanthomas as bizarre variants of squamous cell carcinoma.

Aged↗
PubMed2003

Primary synovial sarcoma of the chest: radiographic and clinicopathologic correlation.

Primary synovial sarcoma of the thorax is rare. Origin of thoracic synovial sarcoma in the pleura or lung was first described only 7 years ago. Radiologic characteristics of this disease have not yet been studied in a formal series. The authors sought to define the radiologic features of primary thoracic synovial sarcoma and to correlate the findings with clinical and pathologic features. They examined clinical, radiologic, and pathologic features of five patients with primary synovial sarcoma of the chest. Radiologic evaluation included conventional radiographs, computed tomographic scans, and magnetic resonance images of the chest. Patients included three men and two women who ranged in age from 28 to 40 years. Primary tumors involved the chest wall (n = 2), lung (n = 1), or both (n = 2). Chest pain was the most common presenting symptom. Although conventional radiographs often showed the lesions to be ill defined, computed tomographic scans showed well-defined masses in every case. Heterogeneous enhancement and an absence of calcification were also seen. Pathologic evaluation demonstrated synovial sarcoma with equal distribution between the monophasic and biphasic variants. The chromosomal translocation X;18 was demonstrated in four of four cases tested. All patients were treated by resection. Recurrence was demonstrated radiologically in four patients at 2 to 14 months. All patients were alive at 9 to 58 months of follow-up. The authors conclude that primary synovial sarcoma of the chest occurs in young adults, most commonly presenting with chest pain. It is characterized radiologically by a heterogeneously enhancing well-defined mass without calcifications.

Adult↗
PubMed1995

Desmoplastic malignant melanoma: a clinicohistopathologic review.

Desmoplastic malignant melanoma is an unusual variant of cutaneous melanoma. Arising from either an occult or recognized superficial melanotic lesion, it evolves into an aggressive, locally recurrent and frequently metastasizing, deep, hard, fibrous tumefaction. A highly confusing clinical and histologic picture makes accurate diagnosis especially difficult. Appropriate treatment is often delayed until time of recurrence. Prognosis is invariably poor if the tumor is not adequately treated primarily. Close follow-up is essential. Since its original description by Conley et al. in 1971, in which 7 cases were presented, fewer than 150 additional cases have been cited. We provide a detailed report of 11 cases of this distinct histopathologic entity. Clinical course, histopathology, surgical management, and prognosis are discussed. It is our hope that this comprehensive review will instill a high index of suspicion among surgeon and pathologist alike, enabling earlier diagnosis and definitive therapy.

Aged↗
PubMedDate not supplied

Cytologic features of malignant peripheral nerve sheath tumor.

OBJECTIVE: To study the cytomorphologic features of malignant peripheral nerve sheath tumor (MPNST), including the epithelioid cell variant, and to establish differential diagnostic features with benign neurogenic tumors and other sarcomas. STUDY DESIGN: Cytologic smears from primary, recurrent and metastatic tumors in 10 patients with MPNST were reviewed. Three patients had neurofibromatosis 1 (NF1), and in two others the tumor arose from a preexisting neurofibroma. Immunocytochemical evaluation of S-100 protein was performed in four cases. A complete pathologic study was available in all cases. To assess the validity of morphologic recognition, a blinded study, including eight cases of spindle MPNST among smears from histologically proven schwannomas, synovial sarcomas, leiomyosarcomas, malignant fibrous histiocytomas and liposarcomas, was performed. RESULTS: Neurogenic differentiation was recognizable in four cases (differentiated), while the other four (anaplastic) were indistinguishable from other pleomorphic sarcomas. The presence of elongated, slender, often wavy nuclei and less commonly a delicate, fibrillary metachromatic stroma were features suggestive of nerve sheath differentiation. Other cytologic, as well as clinical, features permitted their identification as malignant. Two cases of epithelioid MPNST disclosed large, polygonal to plasmocytoid tumor cells without specific cytologic features. S-100 immunoexpression was positive in two of the four cytologic samples tested. CONCLUSION: Although no morphologic findings are specific to MPNST, the above-mentioned cytologic features may suggest, in differentiated cases, its neurogenic differentiation. On the basis of morphologic features alone, the diagnosis of anaplastic and epithelioid MPNST is not possible, and immunocytochemical and ultrastructural studies are necessary. A specific cytodiagnosis is possible in recurrences, metastases and cases of NF1 or a preexisting neurofibroma.

Adult↗
PubMed2005

A very rare entity: catamenial pneumothorax.

Catamenial pneumothorax, a variant of spontaneous pneumothorax occurs exclusively in women of menstrual age. Catamenial pneumothorax is associated with a high rate of recurrence. The etiology and pathogenesis is enigmatic. We describe the case of a 42-year-old woman with right-sided catamenial pneumothorax recurring four times, caused by ectopic endometriosis in the pleural layers which was confirmed histopathologically. Surgical treatment should be accomplished during menstruation for optimal visualization of pleurodiaphragmatic endometriosis.

Adult↗
PubMed2001

Primary cutaneous adenoid cystic carcinoma with regional lymph node metastasis.

Primary cutaneous adenoid cystic carcinoma (PCACC) is a particularly rare variant of sweat gland carcinoma with characteristics of indolent and progressive course and high incidence of perineural invasion and local recurrence. However, regional lymph node metastasis in PCACC is exceedingly rare and its prognostic implication is unknown. Only two previous cases of recurrent scalp PCACC were reported to be associated with cervical lymph node metastases at 42 months and 20 years, respectively, after the initial treatment. We present a case of PCACC occurring in the left parotid region with regional neck lymph node metastasis in a 64-year-old man. Because the occurrence of lymph node metastasis seems to be associated with recurrent PCACC, we suggest that neck dissection may be included in the treatment for recurrent PCACC patients.

Carcinoma, Adenoid Cystic↗
PubMed1984

Oral and gingival changes in systemic sclerosis (scleroderma).

Nineteen patients with systemic sclerosis, including two with CREST syndrome variant, were clinically evaluated for oral and gingival manifestations of their disease. Subjectively over 50% complained of xerostomia, limited opening, recurrent "mouth sores" and dysphagia. Four patients indicated that they had been refused dental care due to limited accessibility to the oral cavity. Objectively, physical examination disclosed prominent lingual and buccal mucosal crenations and loss of tongue mobility with fibrotic induration in 25% of the subjects examined. Three of the patients with advanced disease exhibited foci of severe gingival recession due to fibrous strictures and attached gingiva stripping. None of the patients showed any indication of uncontrolled dental disease secondary to xerostomia.

Adult↗
PubMed1990

Poorly differentiated carcinoma of the thyroid retrospective clinical and morphologic evaluation.

Five thyroid carcinomas showing clinically aggressive biologic behavior were retrospectively reviewed to evaluate the possible presence of morphologic differences from conventional thyroid carcinomas. They were originally diagnosed as follicular carcinomas, medullary carcinoma, papillary carcinoma, and mixed papillary and medullary carcinoma. There were three males and two females. The age at the time of initial diagnosis ranged from 36 years to 67 years (mean 56 years). The size of the tumor varied from 4.5cm to 10cm (mean diameter 7cm). One patient died of brain metastasis four years after the initial therapy and the other four patients are still alive with local recurrences and/or metastases to bone, spinal cord, lung, and buttock. Histologically these lesions are categorized into two different groups: insular variant and columnar cell variant. Insular variant was characterized by well-defined nests (insulae) that are composed of small, uniform cells, frequent tumor necrosis, and hyalinization of the stroma. Columnar cell variant was characterized by tall columnar cells with marked nuclear statification. All five cases stained positively for thyroglobulin and negatively for calcitonin. With the above clinical and histopathological findings, we interpreted these lesions as a poorly differentiated carcinoma, biologically in an intermediate position between well differentiated and anaplastic carcinomas. The rapid and often fatal outcome associated with these variants of poorly differentiated carcinoma warrants aggressive treatment at the time of diagnosis.

Adenocarcinoma↗
PubMed2003

Atrial flutter: arrhythmia circuit and basis for radiofrequency catheter ablation.

The term atrial flutter was introduced 90 years ago for an arrhythmia with a unique electrocardiographic pattern. The development of endocardial mapping techniques in the last decade allowed the detailed characterization of the tachycardia circuit and the identification of the cavotricuspid isthmus as its critical part. This review stresses the position of atrial flutter in the new classification of atrial tachycardias and focuses on its unique electrophysiological characteristics and different variants described in humans. Transcatheter radiofrequency ablation across the cavotricuspid isthmus constitutes a feasible and safe therapy, which prevents flutter recurrences during the long-term follow-up. This paper describes the different techniques that validate bidirectional isthmus block, which is an important endpoint for successful ablation.

Arrhythmias, Cardiac↗
PubMedDate not supplied

Sialo-odontogenic cyst--a case report.

Sialo-odontogenic cyst is an uncommon cyst of odontogenic origin that occurs in the tooth bearing areas of the jaws. These lesions are histopathologically unique, biologically aggressive and may sometimes warrant distinction from central muco-epidermoid carcinoma and botryoid variant of the lateral odontogenic cyst. Sialo-odontogenic cysts tend to recur and various factors are quoted for their recurrence viz., the presence of microcysts, thin connective tissue wall, etc. We are herewith reporting a case of sialo-odontogenic cyst for its relative rarity among the odontogenic cysts.

Adult↗
PubMed2005

Pneumomediastinum in student aviators: 10 cases with return to flying duty.

Pneumomediastinum (PnM) is an uncommon phenomenon, though it is one of the most common causes of chest pain in young adults. It may be particularly important among aviators, as it may result in in-flight incapacitation. Spontaneous PnM is a variant usually associated with the Valsalva maneuver, used during high-performance flight. This may increase the risk of PnM recurrence and raises concern regarding the return to flight duties of aviators after an episode of spontaneous PnM. We present 10 student aviators who experienced a single episode of uncomplicated PnM unassociated with flight. All were returned to flying duty following a normal pulmonary evaluation and are still in active duty. Follow-up was conducted for a mean period of 74.7 mo without any adverse consequences. These findings support the return of aviators to flying duty after a single episode of uncomplicated spontaneous PnM.

Adult↗