Neurofibromatosis Type 1—An Update and Review for the Primary Pediatrician

Goldberg, Yael; Dibbern, Kurt; Klein, Jana; Riccardi, Vincent M.; Graham, John M.

doi:10.1177/000992289603501101

Cited by 52 publications

(30 citation statements)

References 20 publications

(7 reference statements)

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“…NF1 cannot be diagnosed using the NIH criteria in many infants and young children who carry NF1 mutations [Riccardi, 1981;Huson et al, 1989b;Orbringer et al, 1989;Korf, 1992;Goldberg et al, 1996]. The disease is apparent, however, in almost all affected individuals by 8 years of age and in 100% by age 20 [Obringer et al, 1989;DeBella et al, 1999].…”

Section: Penetrancementioning

confidence: 99%

Epidemiology of neurofibromatosis type 1

1999

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The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known ethnic groups in which NF1 does not occur or is unusually common. The prevalence is somewhat higher in young children than in adults, a difference that probably results at least in part from the early death of some NF1 patients. NF1 is fully penetrant in adults, but many disease features increase in frequency or severity with age. The reproductive fitness of NF1 patients is reduced by about one-half. About half of all cases result from new mutations. The estimated rate of new NF1 mutations is unusually high, but the basis for this high mutation rate is not known. Am. J. Med. Genet. (Semin. Med. Genet.) 89:1-6, 1999.

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Section: Penetrancementioning

confidence: 99%

Epidemiology of neurofibromatosis type 1

1999

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“…In the eye, the disorder is characterised by Lisch nodules, optic gliomas, choroidal hamartomas and congenital hypertrophy of the retinal pigment epithelium (CHRPE) [1,2]. The gene for NF-1 is localized to chromosome 17q11.2.…”

Section: Introductionmentioning

confidence: 99%

Supernormal Electro-Oculograms in Patients with Neurofibromatosis Type 1

Lubiński

Zajączek

Sych

et al. 2004

Hered Cancer Clin Pract

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PurposeTo asses the retinal pigment epithelium (RPE) function measured by EOG testing in patients with neurofibromatosis type 1 (NF-1). Our preliminary EOG results suggested dysfunction of the RPE in individuals with NF-1. In order to confirm our initial results we performed EOG examination on a larger group of NF-1 patients.PatientsStudies were performed on 36 patients with clinically diagnosed NF-1 and compared to normal healthy controls.MethodsStandard EOG recordings were performed in accordance with the International Society for Clinical Electrophysiology of Vision (ISCEV) standards.ResultsIn NF-1 patients the Arden indexes of the EOG test were significantly higher primarily due to the lower values of dark troughs. Supernormal EOGs (exceeding the value of the mean + 2 SD from the control group) were present in 58% of NF-1 patients.ConclusionsDysfunction of the RPE is a characteristic feature of individuals with NF-1.

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“…Patients and their family members would benefit from better tailored clinical management of their cases, perhaps even optimal management. This would include having access to better information [16], [19], appropriate genetic counseling [62], and psychological support from an early age [63], as well as receiving follow-up for learning disorders specific to NF [12], [64]. The literature shows that NF1 sufferers who are referred to specialists able to treat their physiological, psychosocial, and cognitive problems can look forward to significant improvements in their health, quality of life, and ability to integrate socially [12], [60].…”

Section: Resultsmentioning

confidence: 99%

Neurofibromatosis Type 1 and the “Elephant Man's” Disease: The Confusion Persists: An Ethnographic Study

et al. 2011

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BackgroundDuring informal interviews in the course of an ethnographic study on intergenerational dialogue between individuals with neurofibromatosis and their parents, many members of Canadian neurofibromatosis associations stated they continue to be told the condition that afflicts them or their children is the “elephant man's” disease. Today, even though well established clinical criteria make it possible to diagnose and differentiate the two diseases, the confusion between NF1 and the disease of Joseph Merrick, the “elephant man”, persists in both media representations and those of physicians. The objective of this article is to document the persistence of this confusion, to identify the factors that contribute to it, and to identify its impact on the well being of individuals with NF1.MethodologyPreliminary stages of an ethnographic study.Principal FindingsOur findings show that some reference sources, past medical training, and print and online news media have all contributed to the persistence of the association between NF1 and the disease of Joseph Merrick, the “elephant man”. Our observations suggest that this misconception can have negative medical, social, and psychological impacts on patients and their families and thus increase the burden of the disease.ConclusionsChanges of attitude regarding medical teaching and the media could lead to definitively clearing up the confusion.

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Neurofibromatosis Type 1—An Update and Review for the Primary Pediatrician

Cited by 52 publications

References 20 publications

Epidemiology of neurofibromatosis type 1

Epidemiology of neurofibromatosis type 1

Supernormal Electro-Oculograms in Patients with Neurofibromatosis Type 1

Neurofibromatosis Type 1 and the “Elephant Man's” Disease: The Confusion Persists: An Ethnographic Study

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