Vascular Lesions Causing Hypertension in Neurofibromatosis

Halpern, M; Currarino, Guido

doi:10.1056/nejm196507292730505

Cited by 139 publications

(51 citation statements)

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“…NF1 vasculopathy of the cerebrum, endocrine system, gastrointestinal tract, and heart have also been reported. Frequently, multiple vessels are involved [7]. Vascular manifestations are classified into three types based on vessel size: pure intimal, intimal aneurismal, and nodular.…”

Section: Discussionmentioning

confidence: 99%

A safe method for excision of a giant neurofibroma on both buttocks using a loop-shaped suture

et al. 2011

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Neurofibromatosis(NF) is an autosomal dominant systemic disease. Up to 50% of patients with NF are reported to have concomitant vascular abnormalities. In the resection of a larger NF, the risk of uncontrolled hemorrhage is much higher due to the difficulty of hemostasis of large vessels within the tumor. We ligated the base of the giant NF with a simple loop-shaped ligation before removal of the giant NF in both buttocks, following this, we could successfully reduce the amount of hemorrhage during the operation. A 46-yearold female patient presented with giant masses of both gluteal areas, which had been growing slowly for the last 10 years. Each mass was about 35×25 cm in size. After designing the elliptical resection margin, we tightened the tumor base by using continuous loop-shaped suture ligation (weaving the thread up and down in a loop-shaped pattern, leaving a space of 2 cm between each loop) a straight needle and prolene 2-0 was used after skin incision. We proceeded with the dissection towards the central and inferior side of the mass obliquely while we avoided opening large vascular sinuses. We resected the tumor in a wedge shape. Subcutaneous tissue was sutured layer by layer, and skin was closed by vertical mattress and interrupted sutures. The loop-shaped ligation of the base was removed, and compressive dressing was done with gauze and elastic bandages. Postoperative complications such as infection, hemorrhage, hematoma, and dehiscence did not occur. Perioperatively, the patient was sufficiently transfused with only two units of blood. During the subsequent 1 year followup, the functional and cosmetic results were excellent. A continuous loop-shaped suture ligation procedure along the base of the giant NF effectively reduced the amount of hemorrhage during the operation, made dissection and ligation of vessels easy and quick, shortened the operating time and postoperative recovery time.

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Section: Discussionmentioning

confidence: 99%

A safe method for excision of a giant neurofibroma on both buttocks using a loop-shaped suture

et al. 2011

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“…NF1 vasculopathy has been observed most often in the renal arteries, but involvement of the arteries of the cerebrum, endocrine system, gastrointestinal tract [Halpern and Currarino, 1965], pulmonary system [Samuels et al, 1999], retina [Moadel et al, 1994;Tholen et al, 1998], and heart [Halper and Factor, 1984;Kandarpa et al, 1988;Nogami et al, 1991;Daly and Rubinstein, 1992;Fuchi et al, 1997] has also been reported. Salyer and Salyer [1974] described four types of vascular lesions according to the size of the vessel involved and the extent of the lesion.…”

Section: Discussionmentioning

confidence: 99%

“…Clinical manifestations of NF1 vasculopathy may include hypertension, usually as a result of renal artery stenosis [Halpern and Currarino, 1965;Faggioli et al, 1992;Kurien et al, 1997;Finley and Dabbs, 1998] or thoracic aortic coarctation [Rowen et al, 1975;Donaldson et al, 1985]. Other reported complications are occlusions resulting in cerebral and visceral infarcts [Levisohn et al, 1978;Taboada et al, 1979;Woody et al, 1992], aneurysms resulting in haemorrhage Huffman et al, 1996;Griffiths et al, 1998;Singh et al, 1998], and arteriovenous fistula [Murayama et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

Analysis of Phenotypic Variability in Neurofibromatosis Type I (NF1)

Friedman¹

2001

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Public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing this collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden to Washington Headquarters Services, Directorate for Information Operations and Reports, 1215 Jefferson Davis Highway, Suite 1204, Arlington, VA 22202-4302, and This project was designed to characterise the sources of phenotypic variability in neurofibromatosis 1 (NF1) by a combination of clinical, statistical, epidemiological, and molecular genetic methods. We have analysed associations found in clinical and genetic data from the NNFF International Database and two other databases with logistic regression and generalized estimating equations. We then extended these methods to use multivariate probit models on familial data. These are novel statistical techniques that have not been used in this way before and yielded interesting results about the sources of phenotypic variability. We were able to determine that the presence of some features of NF1 are more influenced by variability in the NF1 allele, others by the normal NF1 allele and still others by unlinked modifying genes. We have set up, and tested the screening protocol to identify the constitutional mutations of NF1 and have obtained a number of blood samples. We have results for one of our phenotypic subgroups and are completing the analysis at the present time.14. SUBJECT TERMS Neurofibromatosis Body 5 Key Research Accomplishments 26 Reportable Outcomes 27Conclusions 31 Appendices 32 INTRODUCTIONThe natural history of neurofibromatosis 1 (NF1) is incompletely understood. It exhibits extreme clinical variability and is progressive over the course of an affected individual's life. However, the rate of progression and the occurrence of serious complications vary greatly between different patients of the same age, different affected members of a single family, and even a single affected individual at different times in life. This variability and concomitant uncertainty greatly increases the burden for affected families.The purpose of this project is to characterize the sources of phenotypic variability in NF1. The studies were performed on the world's largest NF clinical databases, together including over 5000 individuals, and used a variety of statistical and genetic epidemiological methods. Our goal was to determine if a set of clinical phenotypes exists for which allelic differences at the NF1 locus appear to be important determinants of phenotype. The molecular component of this study (undertaken by Dr. D. Viskochil, University of Utah) was to develop a molecular screening process to enable us to identify the nature of the mutations within these putative phenotypes. BODY Data used in these studies:Most of the initial analy...

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“…The cardiovascular manifestations of neurofibromatosis may include hypertension due to renal artery stenosis, coarctation of the aorta, and less frequently pheochromocytoma [4,6,8]. Pheochromocytoma is described primarily in adults and has a projected incidence of 1% [5].…”

Section: Discussionmentioning

confidence: 99%