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At least 289 records · Page 16Linked to original sources
PubMed1998

Dermatofibrosarcoma protuberans and the Bednar tumor: treatment in the pediatric population.

Dermatofibrosarcoma protuberans (DFSP) is a low-intermediate-grade cutaneous sarcoma that has a marked propensity for local recurrence after excision. The Bednar variant of this tumor is even less common and is distinguished histologically by the dispersal of melanin containing cells in an otherwise typical DFSP. Both are considered to be tumors of the third and forth decades of life, but both DFSP and the Bednar variant have been described in children. Until this report of a congenital Bednar tumor, only the DFSP has also been described in the neonate. The histopathology and surgical management of DFSP and Bednar tumors are outlined with emphasis on reported experience in the pediatric population. The surgical management of these lesions in children is based on numerous series in adults and the limited pediatric experience. The recommended treatment is wide excision with 3-cm margins of visibly uninvolved tissue and inclusion of superficial fascia.

Dermatofibrosarcoma↗
PubMed2000

Pseudovascular squamous cell carcinoma of the skin.

The presence of acantholysis in squamous cell carcinomas (SCC) may rarely be so extreme that, histologically, it mimics a vascular tumour. However, careful histological examination and immunohistochemical study usually lead to the correct diagnosis. We describe such a case to highlight the clinico-pathological features of this rare form of cutaneous malignancy and to emphasize the difficulties in establishing the correct diagnosis. We also review similar cases reported in the literature. Pseudovascular SCC shows a higher degree of recurrence and metastasis than other variants of SCC. Acantholytic foci in these tumours may demonstrate changes in keratinocyte differentiation markers, and this may explain the more aggresive biological behaviour in the pseudovascular variant of SCC.

Acantholysis↗
PubMed2005

Oculomotor nerve schwannoma mimicking ophthalmoplegic migraine.

Ophthalmoplegic migraine (OM) is a rare variant of migraine characterized by recurrent attacks of severe headache followed by oculomotor nerve palsy. The recent revision of the International Headache Classification has reclassified OM from a subtype of migraine, defined as a functional headache, to the neuralgia category. We describe a case of an 11-year-old girl with pathologically confirmed oculomotor nerve schwannoma who had been suffering from symptoms mimicking OM. For five years, she has been under treatment for OM, an initial diagnosis which was corroborated by brain magnetic resonance imaging (MRI). Usually, most OM attacks occur during one period in a lifetime and remit completely. In contrast, however, her attacks became more frequent and were not controlled by medication. After surgery, the frequency of OM attacks was reduced. From this experience, we hypothesize that optic nerve tumor is one condition that can mimic OM, without apparent signs suggestive of intracranial mass. To our knowledge, this is the first report to describe a pathologically confirmed case of oculomotor nerve schwannoma mimicking OM.

Child↗
PubMed1985

Nucleolar organizer region variants as a risk factor for Down syndrome.

An unusual nucleolar organizer region (NOR) heteromorphism was noted among 13 of 41 parents in whom nondisjunction leading to trisomy 21 was known to have occurred. In contrast, only one of these double NOR (dNOR) variants was found among the 41 normal spouses and none were seen among 50 control individuals. In two dNOR(+) families, a second child with trisomy 21 was conceived. In both families, the extra chromosome in each child was contributed by the parent who carried the dNOR variant and resulted from a recurrent meiosis I error. Our data suggest that the dNOR heteromorphism may play a role in meiotic nondisjunction and could be associated with as much as a 20-fold increased risk for having offspring with trisomy 21.

Child↗
PubMed1994

Hematogenous osteomyelitis with inflammatory cyst formation mimicking a soft-tissue tumor.

Reported is a case of hematogenous osteomyelitis of the femur with inflammatory cyst formation mimicking a soft-tissue tumor. A 15-year-old boy with a three-year history of a gradually enlarging soft-tissue mass of his left thigh was found to have an aborted acute hematogenous osteomyelitis complicated by an inflammatory cyst that was probably caused by inadequate antibiotic therapy. The osteomyelitis and its inflammatory cyst were treated with excisional debridement and six weeks of antibiotic therapy. The patient remains well five years later, with no clinical or radiologic evidence of recurrence. This is a new variant of chronic osteomyelitis that has not previously been reported.

Adolescent↗
PubMed2006

Functional polymorphisms in the mannan-binding lectin 2 gene: effect on MBL levels and otitis media.

BACKGROUND: Mannan-binding lectin (MBL) can bind to microorganisms, initiating the lectin pathway of complement activation. Aberrant MBL serum levels, caused by MBL2 gene polymorphisms, are a possible risk factor for recurrent infections. Within the 7 common MBL haplotypes, still considerable variation in MBL serum levels exists. OBJECTIVE: To investigate functional MBL levels and MBL2 polymorphisms in a large cohort of children with recurrent acute otitis media. METHODS: Twelve genetic variants in the MBL2 gene and functional MBL serum levels were determined in a cohort of children with recurrent acute otitis media. Haplotypes were constructed and associated with functional MBL serum levels and the number of otitis episodes in the previous year. RESULTS: The 7 common MBL2 haplotypes mainly determine the level of functional MBL in serum. In addition, the 3130G>C single nucleotide polymorphism, located in exon 4, further significantly influenced functional MBL levels within the LXPA haplotype. LXPA carriers with 3130G showed a significantly lower geometric mean functional MBL serum level of 0.19 mug/mL compared with 0.70 mug/mL in 3130C carriers (P = .026). Nonwild-type MBL2 carriers between 12 and 24 months had a significantly increased number of otitis episodes (5.1/y) compared with wild-type MBL2 carriers (4.1/y; P = .027). In older children, this association was not found anymore. CONCLUSION: Additional single nucleotide polymorphisms within the 7 common haplotypes can further explain the observed variation in functional MBL serum levels. MBL seems to be of particular clinical importance during early childhood, when maternally derived antibodies have waned, and protective adaptive immunity is not well developed yet. CLINICAL IMPLICATIONS: Single nucleotide polymorphisms in the promoter region, in exon 1, and in exon 4 of MBL2 contribute to increased risk for otitis media in children younger than 2 years.

Acute Disease↗
PubMed2002

Expression of estrogen receptor, progesterone receptor, and insulin-like growth factor receptor-1 and of MIB-1 in patients with recurrent pleomorphic adenoma of the parotid gland.

BACKGROUND: Patients with recurrent pleomorphic adenomas of the parotid gland are difficult to manage without considerable risk of facial nerve injury. The prognostic significance of progesterone receptor (PR) and estrogen receptor (ER) reported in these adenomas was evaluated in patients with recurrent pleomorphic adenomas, comparing the results in a group of patients with primary adenomas without recurrences during 10 years of follow-up. METHODS: Paraffin embedded tumor samples from 52 patients with recurrent pleomorphic adenoma of the parotid gland were collected and stained immunohistochemically. Expression of PR, ER, Ki-67 antigen, and insulin-like growth factor receptor-1 (IGFR-1) was analyzed in resected samples of recurrent tumors and was compared with samples from a control group of patients with primary pleomorphic adenoma. RESULTS: A difference (P < 0.05) in the type of tumor was observed between the recurrent group (more cell-poor variants) and the control group. ER expression was low in both groups (19% and 17%, respectively), but immunoreactivity for ER was higher (48%) in normal parotid gland tissue. PR expression in the recurrent group (96%) was higher compared with PR expression in the control group (61%; P < 0.001). PR expression and IGFR-1 expression were correlated weakly (correlation coefficient = 0.660; P = 0.053) in the recurrent group. The expression of growth fraction (Ki-67 score) and IGFR-1 was similar in both groups but was more extensive compared with normal parotid gland tissue. CONCLUSIONS: PR seems to be a prognostic factor in recurrent pleomorphic adenoma of the parotid gland. The PR pathway can be considered a potential target for hormone treatment in patients with these recurrent adenomas.

Adenoma, Pleomorphic↗
PubMed2001

Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

To obtain more information of the functional domains of the NPC1 protein, the mutational spectrum and the level of immunoreactive protein were investigated in skin fibroblasts from 30 unrelated patients with Niemann-Pick C1 disease. Nine of them were characterized by mild alterations of cellular cholesterol transport (the "variant" biochemical phenotype). The mutations showed a wide distribution to nearly all NPC1 domains, with a cluster (11/32) in a conserved NPC1 cysteine-rich luminal loop. Homozygous mutations in 14 patients and a phenotypically defined allele, combined with a new mutation, in a further 10 patients allowed genotype/phenotype correlations. Premature-termination-codon mutations, the three missense mutations in the sterol-sensing domain (SSD), and A1054T in the cysteine-rich luminal loop all occurred in patients with infantile neurological onset and "classic" (severe) cholesterol-trafficking alterations. By western blot, NPC1 protein was undetectable in the SSD missense mutations studied (L724P and Q775P) and essentially was absent in the A1054T missense allele. Our results thus enhance the functional significance of the SSD and demonstrate a correlation between the absence of NPC1 protein and the most severe neurological form. In the remaining missense mutations studied, corresponding to other disease presentations (including two adults with nonneurological disease), NPC1 protein was present in significant amounts of normal size, without clear-cut correlation with either the clinical phenotype or the "classic"/"variant" biochemical phenotype. Missense mutations in the cysteine-rich luminal loop resulted in a wide array of clinical and biochemical phenotypes. Remarkably, all five mutant alleles (I943M, V950M, G986S, G992R, and the recurrent P1007A) definitively correlated with the "variant" phenotype clustered within this loop, providing new insight on the functional complexity of the latter domain.

Adolescent↗
PubMedDate not supplied

Desmoplastic melanoma: patterns of recurrence.

Desmoplastic melanoma is a rare type of malignant melanoma, recognized since 1971. Other variants of desmoplastic melanoma include neural transforming melanoma and neurotropic melanoma. The pathology and clinical features of 58 patients whose tumor had the features of desmoplastic melanoma, neural transforming melanoma, and neurotropic melanoma, either separately or in combination, were examined to assess patterns of recurrent disease. The tumor was situated on the head and neck in 41% of patients and was amelanotic in 71% of patients. There was an associated superficial melanoma in 48% of patients. There was a combination of the 3 histologic patterns, commonly found in the 1 melanoma. Local recurrence occurred in 29% of patients and malignant cranial neuropathies were documented in 4 patients. Nineteen percent of patients have died from disseminated disease. Neurotropic melanomas had a lower incidence of visceral recurrence. Desmoplastic and neural transforming melanomas had similar rates of local and visceral recurrence. When this specific variant of melanoma is compared with larger series of malignant melanoma in general, they appear to be more advanced locally, with a higher incidence of local recurrence. When considered in relation to the thicker nondesmoplastic melanomas, the survival is no worse and may be more favorable. Surgeons should excise the primary tumor and local recurrences with wide margins and adopt close follow-up. On the head and neck, symptoms and signs relating to trigeminal or facial nerve innervation may herald a developing malignant cranial neuropathy.

Adolescent↗
PubMed2000

Anterior rectal duplication: a diagnostic challenge.

The authors present an anterior rectal cyst in a 14-month-old girl. This rare variant of rectal duplications presented with recurrent urinary infections. The diagnosis was challenging in view of the multiple differential diagnoses to be considered. Magnetic resonance imaging appeared to be the most accurate preoperative investigation. The cyst was removed uneventfully by partial excision and mucosal ablation. An awareness of this variant can lead to early diagnosis and curative resection.

Failure to Thrive↗
PubMed2002

Effectiveness of intravenous immunoglobulin treatment in adult patients with steroid-resistant monophasic or recurrent acute disseminated encephalomyelitis.

Randomized Controlled Trials have not let established the best pharmacological management of Acute Disseminated Encephalomyelitis (ADEM). High dose steroids are usually employed with good results, but in a few cases the clinical outcome is poor. In other patients, particularly those affected by the site restricted ADEM variants (myelitis), the disease shows a recurrent course resembling that of Multiple Sclerosis. We present here five patients, 3 of them affected by classic disseminated encephalomyelitis and 2 by a post infectious myelitis, which showed a good response to intravenous immunoglobulin (IVIg) after steroid treatment failure. In our report high dose steroids administration was substantially uneffective in all but one case, who showed a good response only during the first episode. On the contrary IVIg injection (0,4 gr/kg/day) produced a marked functional improvement in all patients starting within the first five days of drug administration and reaching a maximum within three weeks. One patient experienced a good effect nothwithstanding a steady dysability. In all cases, clinical evidence was supported by MRI controls showing improving posttreatment changes.

Aged↗
PubMed1988

[Course of lymphogranulomatosis with primary location below the diaphragm].

Some peculiarities in a course of stage I-II Hodgkin's disease with a primary site below the diaphragm are analyzed. This site is more common in men and in a mixed cell histological variant of lymphogranuloma. The frequency of recurrence is higher in this group than in patients with a primary site above the diaphragm. Recurrences affect more frequently the lymphatic areas above the diaphragm. The data obtained suggest the necessity of irradiation of the lymphatic collectors on both sides of the diaphragm in a primary site below the diaphragm, particularly in patients with "mixed cell" and "lymphoid depletion" histological variants of lymphogranuloma.

Adult↗
PubMedDate not supplied

Fine needle aspiration cytology of a recurrent malignant tumor of the kidney with rhabdoid features in an adult. A case report.

BACKGROUND: Malignant rhabdoid tumor of the kidney in children is considered a distinct entity. Malignant tumors with rhabdoid features in adults in extrarenal locations and in children over the age of 5 years are considered phenotypic variants. CASE: In a case of recurrent transitional cell carcinoma with rhabdoid features of the kidney in an adult, confirmed immunohistochemically and ultrastructurally, fine needle aspiration cytology showed discohesive, large- to medium-sized polygonal cells with eccentric nuclei; prominent nucleoli; abundant, pink cytoplasm; and paranuclear, eosinophilic density, corresponding to cytoplasmic eosinophilic globules seen in the histologic sections and cytoplasmic filamentous inclusions seen ultrastructurally. CONCLUSION: The cytologic features of malignant rhabdoid tumors are characteristic.

Biopsy, Needle↗
PubMed2001

Clear cell pleomorphic xanthoastrocytoma: case report.

Pleomorphic xanthoastrocytoma (PXA) is a well-described astrocytic neoplasm with distinctive clinical and pathological features. Although most patients with PXAs are cured by surgical excision, other patients experience malignant progression and tumor recurrence. We describe a 47-year-old woman with a left temporal lobe PXA that had classic histopathological characteristics as well as extensive clear cell and focal papillary changes, and some anaplastic findings. The patient has now suffered two recurrences after complete resection. The case illustrates a rare, previously undescribed histological variant of PXA, with a prominent clear cell and focal papillary morphology. The study of histologically similar cases is needed to determine whether this variant is always associated with a greater likelihood of recurrence.

Astrocytoma↗
PubMed1993

Nucleolar organizer regions in meningiomas.

Paraffin sections of 305 meningeal tumours were analysed for the presence of nucleolar organizer region (Ag-NOR) in the neoplastic cells, using a one step silver-colloidal staining method. The mean (+/- SEM) Ag-NOR counts were 2.73 +/- 0.21 for atypical and 2.91 +/- 0.18 for papillary variants of meningioma. In meningotheliomatous and transitional variants of meningioma, the mean Ag-NOR counts were 1.41 +/- 0.34 and 1.38 +/- 0.31, respectively. The recurrence rates were significantly higher in atypical meningiomas than in other histopathological variants (p < 0.05). Differences in the mean Ag-NOR numbers between meningothelial and transitional variants in their primary and recurrent tumours were not significantly different (p > 0.05). The results of this study indicates that estimation of Ag-NORs can be applied in predicting the aggressive clinical behaviour of primary meningeal tumours.

Brain↗
PubMed2002

Chromosomal aberrations by comparative genomic hybridization in hürthle cell thyroid carcinomas are associated with tumor recurrence.

Hürthle cell thyroid neoplasms are classified as variants of follicular neoplasms, but they have distinct clinicopathological features. Chromosomal aberrations by comparative genomic hybridization (CGH) are common in Hürthle cell neoplasms. However, there is currently only limited information concerning the relationship between the chromosomal aberrations by CGH and tumor behavior. We, therefore, investigated chromosomal aberrations in primary Hürthle cell neoplasms (13 carcinomas and 15 adenomas) using CGH and correlated the aberrations identified with tumor node metastasis (TNM) stage, tumor differentiation, capsular invasion, and tumor recurrence. Chromosomal aberrations were found in 62% (8 of 13) of carcinomas and 60% (9 of 15) of adenomas. Overall, common chromosomal gains were found on 5p (29%), 5q (36%), 7 (29%), 12p (14%), 12q (21%), 17p (29%), 17q (32%), 19p (32%), 19q (25%), 20p (21%), 20q (29%), and 22q (18%). Common chromosomal losses were found on 2q (18%) and 9q (18%). Thirty-eight percent (5 of 13) of carcinomas were TNM stage III, 31% (4 of 13) were moderately to poorly differentiated, and 46% (6 of 13) were intermediately to widely invasive. Recurrence occurred in 38% (5 of 13). Carcinomas that subsequently recurred had a greater number of chromosomal gains (9.0 vs. 1.3; <0.005) and had more frequent chromosomal gains on 12q, 19q, and 20p (<0.001), 5p, 7, 19p, and 20q (<0.005), and 12p (<0.01) than those that did not recur. Five of the eight (63%) patients with aberrations developed recurrence, whereas none of the five patients without aberrations developed recurrence. In conclusion, chromosomal gains by CGH on 5p, 7, 12p, 12q, 19p, 19q, 20p, and 20q in Hürthle cell carcinomas are associated with tumor recurrence. Such chromosomal aberrations may be predictive for recurrent disease in patients with Hürthle cell thyroid carcinoma.

Adenoma↗