scholarly journals Neurofibromatosis Type 1 and Polydactyly

2018 ◽  
Vol 1 (1-3) ◽  
pp. 42-49
Author(s):  
Abby Lauren D’Angelo ◽  
Ellyn Farrelly ◽  
David A. Stevenson
Keyword(s):  
General Population ◽  
Musculoskeletal System ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Neurofibromatosis Type ◽  
Research Database ◽  
Potential Mechanism ◽  
Postaxial Polydactyly ◽  
Neurocutaneous Disorder

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that can impact the musculoskeletal system. Polydactyly is not a commonly reported skeletal feature in NF1, but the presence of several case reports in the literature raises the question of an association. We report an individual with bilateral postaxial polydactyly of the feet diagnosed with NF1. To investigate whether these findings are coincidental or nonrandom, the prevalence of polydactyly in an NF1 research database and in other reported NF1 cohorts were compared to the prevalence of polydactyly in the general population. The previously documented cases of individuals with NF1 and polydactyly certainly provoke the question of a nonrandom association between these two findings. However, there are conflicting data from the previous reports that looked at the frequency of polydactyly in NF1 populations, and the data from our database point to a coincidental association rather than a nonrandom association. While several reports have suggested a potential mechanism for the co-occurrence of polydactyly and NF1, a concrete association is still not yet well supported and caution should be used in attributing polydactyly to NF1.

Neurofibromatosis Type 1

2017 ◽  
Author(s):  
David S. Wolf
Keyword(s):  
Learning Disabilities ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Vascular Abnormalities ◽  
Hyperactivity Disorder ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Neurocutaneous Disorder

Neurofibromatosis type 1 is a common, autosomal dominant, monogenetic neurocutaneous disorder. It is characterized by café au lait spots, axillary and inguinal freckling, Lisch nodules, optic pathway gliomas, neurofibromas, and distinctive bony abnormalities. Also associated with this condition are other central nervous system tumors, scoliosis, hypertension, vascular abnormalities, and cognitive issues such as learning disabilities and attention deficit-hyperactivity disorder.

scholarly journals Clonidine suppression testing for pheochromocytoma in neurofibromatosis type 1

2019 ◽  
Vol 12 (6) ◽  
pp. e228263
Author(s):  
WingYee Wan ◽  
Bichle Nguyen ◽  
Sky Graybill ◽  
Jonathan Kim
Keyword(s):  
Surgical Treatment ◽  
General Population ◽  
Neurofibromatosis Type 1 ◽  
False Positive ◽  
Neurofibromatosis Type ◽  
Aided Diagnosis ◽  
Positive Results ◽  
Adrenal Nodule

Compared with the general population, rates of pheochromocytoma are higher in neurofibromatosis type 1 (NF1) patients. However, pheochromocytoma testing is often plagued by false positive results. Here we present a patient with NF1, elevated urinary metanephrine levels, and an indeterminate adrenal nodule. Clonidine suppression testing aided diagnosis and led to definitive surgical treatment that confirmed a pheochromocytoma. Pheochromocytoma screening and clonidine suppression testing can both aid in the evaluation for catecholamine-secreting tumours.

Height Growth Impairment in Children With Neurofibromatosis Type 1 Is Characterized by Decreased Pubertal Growth Velocity in Both Sexes

2018 ◽  
Vol 33 (12) ◽  
pp. 762-766 ◽  
Author(s):  
Nicholas R. Zessis ◽  
Feng Gao ◽  
Gayathri Vadlamudi ◽  
David H. Gutmann ◽  
Abby S. Hollander
Keyword(s):  
General Population ◽  
Neurofibromatosis Type 1 ◽  
Growth Velocity ◽  
Neurofibromatosis Type ◽  
Peak Height ◽  
Height Velocity ◽  
Peak Height Velocity ◽  
Pubertal Growth ◽  
Nf1 Gene

Previous studies have suggested that children with neurofibromatosis type 1 are shorter than their unaffected counterparts as an effect of a germline NF1 gene mutation. The pathophysiology of this effect is still uncertain. The purpose of this study was to characterize longitudinal growth in children with neurofibromatosis type 1 in order to assess growth velocity and its influence on stature. Longitudinal height data were collected for 188 patients with a confirmed clinical diagnosis of neurofibromatosis type 1. Children with neurofibromatosis type 1 had population mean heights statistically different from the general population, with a reduced peak height velocity during pubertal growth. In addition, there were no significant differences in the timing of peak height velocity during puberty between the general population and those with neurofibromatosis type 1. These data demonstrate that short stature in neurofibromatosis type 1 is due in part to subnormal height acquisition during puberty.

Cervical Vertebral Artery Aneurysms and Arteriovenous Fistulae in Neurofibromatosis Type 1: Case Reports

Neurosurgery ◽  
1991 ◽  
Vol 29 (5) ◽  
pp. 760-765 ◽  
Author(s):  
Wouter I. Schievink ◽  
David G. Piepgras
Keyword(s):  
Vertebral Artery ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Artery Aneurysm ◽  
Neurofibromatosis Type ◽  
Neck Mass ◽  
Vascular Lesions ◽  
Subclavian Artery Aneurysm ◽  
Extracranial Vertebral Artery

Abstract Neurofibromatosis is of particular interest to neurosurgeons because of the various central and peripheral nervous system tumors and, more rarely, cervicocerebral arterial lesions associated with the disease. In the present paper, we report two patients with neurofibromatosis Type 1 (von Recklinghausen's disease) who had anomalies of the extracranial vertebral arteries. A large extracranial vertebral artery' aneurysm was incidentally discovered in the first patient, a 43-year-old woman, after rupture of a subclavian artery aneurysm. The second patient, a 28-year-old woman, had an enlarging neck mass and was found to have an extensive extracranial vertebral artery arteriovenous fistula. The vascular lesions associated with neurofibromatosis Type 1 in general and those arising from the extracranial vertebral artery in particular are reviewed.

scholarly journals Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Cecilie Ejerskov ◽  
Mette Gaustadnes ◽  
John R. Ostergaard ◽  
klaus Krogh ◽  
Kasper Thorsen ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Gastrointestinal Symptoms ◽  
Neurofibromatosis Type ◽  
Illness Burden ◽  
Mutational Spectrum ◽  
High Degree

AbstractNeurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports. In three previously published studies, the frequency of constipation in patients with NF1 has been found to be as high as 30%. In this study, associations between the frequency of constipation and NF1 disease severity and NF1 mutational spectrum were investigated. Among 277 patients with NF1, 49 had constipation. The highest rate of constipation was found among patients with a high perception of NF1 illness burden, and patients with constipation had a significantly higher NF1 illness burden when comparing the “not bothered” and the “very bothered” (p = 0.013). We found no significant association between constipation and the remaining measures on severity of NF1, nor between constipation and genetic variants. When observing the NF1 mutational spectrum, one variant (c.1013A>G (p.Asp338Gly/p.?) was identified in three patients with constipation of which two patients were related. The variant c.2970_2972delAAT (p.Met992del) associated with a mild NF1 phenotype was identified in two related patients with constipation. This study is the first to explore the association between symptoms of constipation, NF1 severity, and NF1 mutational spectrum. The results suggest an association between constipation and a high degree of illness burden. Awareness of this association among physicians could lead to more patients with NF1 being diagnosed with constipation. Constipation impacts on quality of life, hence a timely diagnosis and treatment will improve quality of life.

scholarly journals Life-threatening brachial artery hemorrhage and a lethal outcome in patients with neurofibromatosis type 1: two case reports and a review of the literature

2021 ◽  
Vol 49 (6) ◽  
pp. 030006052110253
Author(s):  
Jisun Lee ◽  
Yook Kim
Keyword(s):  
Brachial Artery ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Neurofibromatosis Type ◽  
Multisystem Involvement ◽  
Dominant Disease ◽  
Life Threatening ◽  
Uncontrolled Bleeding

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neuorocutaneous lesions and multisystem involvement. Other notable features of NF1 include vasculopathy in the form of stenosis, occlusion, aneurysm, pseudoaneurysm, arteriovenous deformity, and rupture, which are difficult to manage and can have fatal outcomes. We describe two cases of extensive and progressive brachial artery hemorrhage following blunt trauma in patients with NF1. Management of these patients included combined endovascular and surgical treatment based on the patients’ condition. The patients had a poor prognosis because of uncontrolled bleeding. While one patient died, the other survived, but the involved arm was amputated. Endovascular treatment is a widely used, popular, minimally invasive, and safe method to control the bleeding associated with NF1. However, this treatment can be challenging at times. Close collaboration between an interventional radiologist and surgeon is necessary for optimal treatment and careful follow-up for this condition.

scholarly journals Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020

2021 ◽  
Vol 4 (3) ◽  
pp. e210945 ◽  
Author(s):  
Jace P. Landry ◽  
Kelsey L. Schertz ◽  
Yi-Ju Chiang ◽  
Angela D. Bhalla ◽  
Min Yi ◽  
...  
Keyword(s):  
General Population ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cancer Center ◽  
Cancer Prevalence

scholarly journals Manifestaciones gastrointestinales en neurofibromatosis tipo 1. Reporte de un caso

2020 ◽  
Vol 50 (4) ◽  
Author(s):  
Daniela Méndez ◽  
Martin Oricchio ◽  
Yesica Pontet ◽  
Martha Otero ◽  
Felipe Muñiz ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Inflammatory Polyp ◽  
Palpable Mass ◽  
Cutaneous Manifestations ◽  
Increased Risk ◽  
Neurocutaneous Disorder ◽  
Digestive Malignancies ◽  
Von Recklinghausen

Neurofibromatosis type 1, also known as von Recklinghausen disease, is an inherited neurocutaneous disorder with gastrointestinal involvement in 5-25% of the patients, which develops following cutaneous manifestations. Only 5% have symptoms such as abdominal pain, diarrhea, palpable mass, bleeding, obstruction or intestinal perforation. There is an increased risk of developing digestive malignancies, frequently in the small bowel. The following report presents the case of a patient with neurofibromatosis type 1, with the diagnosis of a jejunal gastrointestinal stromal tumor and a fibroid inflammatory polyp in the context of gastrointestinal bleeding.

Neurocutaneous Disorders

2021 ◽  
pp. 1077-1091
Author(s):  
Gesina F. Keating
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Organ Systems ◽  
Neurocutaneous Disorder ◽  
Neurologic Findings

Neurocutaneous disorders, formerly called phakomatoses, are characterized by cutaneous and neurologic findings. Many are genetic, but some are sporadic. Often these disorders affect other organ systems as well and require lifetime surveillance for complications. Neurofibromatosis type 1 is the most common neurocutaneous disorder. With a prevalence of approximately 1 in 3,000 persons, it is more than 10 times more common than neurofibromatosis type 2.

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