For NF 1 For NF 2 We understand that you may have a lot of questions when your child is diagnosed with NF1: What is it? What does it mean? How will it affect my child? What is neurofibromatosis type 1 NF1?
What complications are associated with NF1? Some of the more common complications include: Headaches. Children with NF1 often experience headaches. If the frequency or nature of the headaches change, you should contact your doctor. Deformation of bone structure , including: scoliosis curvature of the spine.
Scoliosis affects around 10 percent of individuals with NF1, and may appear in early childhood. This affects around 3 to 5 percent of people with NF and appears during the first year of life.
Optic pathway glioma. This is a thickening of the nerve connecting the eye to the brain that affects around 15 percent of people with NF1. Malignant changes to plexiform neurofibromas. Around 10 percent of plexiform neurofibromas may become malignant. Some kids with NF1 have problems in these areas.
Can NF1 be cured? Will my child be OK? How common is it? NF1 is far from rare — it occurs in one in births. Is it cancer? Is NF1 ever called anything else? Yes, you may have heard NF1 also referred to as von Recklinghausen's disease.
The classic symptom of NF2 is hearing loss that begins in the teens or early twenties. What is segmental NF? Who should be screened for NF1? How reliable is genetic testing for NF1? Causes What causes neurofibromatosis 1? This means that: Even though each child inherits two NF1 genes one from each parent , if only one of them has a mutation, the child will have the condition.
It affects males and females equally. When neurofibromatosis is not inherited Around half of all individuals with NF1 are the first in their family to have the condition.
But I thought you said that NF1 was genetic? Other causes There has been absolutely no evidence that NF1 is caused by any environmental agents or by anything that the mother did during pregnancy. Signs and symptoms What are the symptoms of NF1? The commitment and compassion with which we care for all children and families is matched only by the pioneering spirit of discovery and innovation that drives us to think differently, to find answers, and to build a better tomorrow for children everywhere.
Kevin B. Churchwell, President and CEO. Connect with Boston Children's Hospital. ISSN X. Genet Couns. Invest Ophthalmol Vis Sci. J Am Acad Dermatol. Annals of Internal Medicine. Ned Tijdschr Geneeskd. New England Journal of Medicine.
Pan Afr Med J. J Eur Acad Dermatol Venereol. CS1 maint: Explicit use of et al. Journal of the European Academy of Dermatology and Venereology. Am J Ophthalmol. Ann Ophthalmol. They are not diagnostic when present as an isolated finding. Multiple Lisch nodules associated with NF1 are almost always bilateral. Multiple, unilateral Lisch nodules occur rarely, and somatic mosaicism may explain their presence. Prenatal genetic counseling should be offered to patients with numerous, unilateral Lisch nodules.
We present a case of a year-old healthy, Caucasian female diagnosed with multiple, unilateral Lisch nodules during routine eye examination by an ophthalmologist who then referred the Patient to Dermatology to evaluate for cutaneous signs of neurofibromatosis type 1 NF1. Her medical history revealed a full-term, uncomplicated birth and an episode of patellar dislocation.
She denied history of skin growths, scoliosis, birthmarks, learning disabilities, seizures, and growth or developmental delays. There was no family history of mental retardation, cancer, pigmentary abnormalities, or genetic diseases, including NF1.
On physical examination, blood pressure was normal. Slit-lamp examination revealed multiple small, oval, yellow-brown, fleshy papules randomly spaced on the inferior surface of her right iris consistent with Lisch nodules Figure 1. There was no associated underlying nevus; vision, fundoscopic examination and intraocular pressures were unremarkable.
Lisch nodules are the most common ophthalmologic manifestation of NF1 and are included in the clinical diagnostic criteria for NF1 [ 1 ]. Histologically, they are melanocytic hamartomas, presumably of neural crest origin, similar to other cutaneous characteristics of NF1 [ 2 ]. The differential diagnosis of Lisch nodules includes iris mammillations, multiple iris nevi, iris melanoma, Cogan-Reese ICE syndrome, granulomatous iritis, iris cysts, retinoblastoma, Brushfield flecks, and other malformations [ 3 , 4 ].
In our otherwise healthy patient, iris mammillations and multiple iris nevi were mainly considered. Iris mammillations are frequently confused with Lisch nodules and are characterized by regularly spaced, deep brown, and smooth conical iris elevations [ 5 ].
Often found in more deeply pigmented ethnic groups, they are seen in association with oculodermal melanosis and may be an external manifestation of ocular hypertension or intraocular malignancy [ 5 ]. Iris nevi present as flat, or minimally elevated, densely pigmented lesions with blurred margins [ 6 ]. These can be differentiated from Lisch nodules by slit-lamp examination as Lisch nodules are well-defined, dome-shaped elevations rising from the surface of the iris [ 6 ]. Unilateral Lisch nodules are rare.
They have been reported in cases of segmental neurofibromatosis, found associated with other pigmentary changes or neurofibromas.
To our knowledge, only five other cases of Lisch nodules without other clinical evidence of NF1 have been reported [ 2 , 4 , 7 ]. Only one other reported case of numerous , unilateral Lisch nodules in the absence of additional features of NF1 exists [ 7 ]. Possible genetic explanation of isolated, unilateral Lisch nodules is also of interest.
Somatic mosaicism accounts for many sporadic NF1 cases; however, the clinical phenotype reflects the timing of the somatic mutation as well as the involved tissues [ 8 ]. Ruggieri and Huson subdivided the clinical presentation of mosaicism into generalized disease, localized or segmental disease, and pure gonadal mosaicism [ 8 ]. Segmental disease is caused by late-stage mutations in the NF1 gene during embryogenesis and, in a very limited manner, could explain the development of unilateral Lisch nodules without other clinical characteristics of NF1.
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