Sinonasal teratocarcinosarcoma involving the cavernous sinus.
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Aged↗
Biomedical subjects
Jacek Szudek
Publications and source records attributed to Jacek Szudek.
Analysis of neurofibromatosis 1 (NF1) lesions by body segment.
Café-au-lait spots and neurofibromas are defining features of neurofibromatosis 1 (NF1), but they vary greatly in number, size, and clinical importance from patient to patient. The cause of this variability is unknown. We tested the hypotheses that development of these lesions is influenced by local or familial factors. The presence or absence of café-au-lait spots, cutaneous neurofibromas, and diffuse plexiform neurofibromas was recorded for each of 10 divisions of the body surface in 547 NF1 patients, including 117 affected individuals in 52 families. We used stratified Mantel-Haenszel tests to look for local associations between the presence of diffuse plexiform neurofibromas, cutaneous neurofibromas, and café-au-lait spots in individual body segments of NF1 patients. We used a random effects model to obtain intrafamilial correlation coefficients for the age-adjusted number of body divisions affected with each of the three lesions. No significant association was observed between the occurrence of cutaneous and diffuse plexiform neurofibromas, between café-au-lait spots and cutaneous neurofibromas, or between café-au-lait spots and plexiform neurofibromas in the same body segment. The correlation among relatives in the number of body segments affected with café-au-lait spots was 0.45 (95% confidence interval [CI] = 0.18-0.71), with cutaneous neurofibromas, 0.37 (95% CI = 0.15-0.55), and with plexiform neurofibromas, 0.35 (95% CI = 0.15-0.57). We conclude that the development of café-au-lait spots, cutaneous neurofibromas, and plexiform neurofibromas are spatially independent in NF1 patients but that the development of all three lesions is influenced by familial factors.
Adolescent↗
Patterns of associations of clinical features in neurofibromatosis 1 (NF1).
Neurofibromatosis 1 (NF1) is a common, fully penetrant autosomal dominant disease. The clinical course is generally progressive but highly variable, and the pathogenesis is poorly understood. We studied statistical associations among 13 of the most common or important clinical features in data from four separate sets of NF1 patients: a "developmental sample" of 1,413 probands from the NNFF International Database, an independent "validation sample" of 1,384 probands from the same database, 511 affected relatives of these probands, and 441 patients from a population-based registry in northwest England. We developed logistic regressive models for each of the 13 features using the developmental sample and attempted to validate these models in the other three samples. Age and gender were included as covariates in all models. Models were successfully developed and validated for ten of the 13 features analysed. The results are consistent with grouping nine of the clinical features into three sets: (1) café-au-lait spots, intertriginous freckling and Lisch nodules; (2) cutaneous, subcutaneous and plexiform neurofibromas; (3) macrocephaly, optic glioma and other neoplasms. In addition, three-way interactions among café-au-lait spots, intertriginous freckling and subcutaneous neurofibromas indicate that the first two groups are not independent. Our studies show that some individuals with NF1 are more likely than others to develop certain clinical features of the disease. Some NF1 features appear to share pathogenic mechanisms that are not common to all features.
Humans↗
Unidentified bright objects associated with features of neurofibromatosis 1.
Unidentified bright objects are commonly observed on magnetic resonance imaging in young neurofibromatosis 1 patients, but their clinical and pathologic significance is largely unknown. Diagnostic features of neurofibromatosis 1 include café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, bony lesions, and optic glioma. We investigated the relationship between unidentified bright objects and other features of neurofibromatosis 1. Data from the National Neurofibromatosis Foundation International Database included 523 neurofibromatosis 1 patients between 2 and 20 years of age who had cranial magnetic resonance imaging examinations. The presence or absence of unidentified bright objects, diagnostic features of neurofibromatosis 1, and central nervous system neoplasms was known in these patients. Logistic regressive models were used to measure associations between unidentified bright objects and the other features while controlling for age. The occurrence of unidentified bright objects was associated with the number of diagnostic features, but most significantly with central nervous system neoplasms other than optic gliomas [odds ratio (OR) = 9.0, 95% confidence interval (CI) = 1.2-70], optic gliomas (OR = 2.1, 95% CI = 1.2-3.6), subcutaneous neurofibromas (OR = 2.0, 95% CI = 1.3-3.1), and Lisch nodules (OR = 1.6, 95% CI = 1.1-2.3). These findings suggest a common causal mechanism between unidentified bright objects and these cardinal clinical features in children with neurofibromatosis 1.
Adolescent↗