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Identifying Explaining Managing Supporting Consultation Video
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What can I expect?
Consultation
Hannah's parents ask about her life expectancy.
[3:39]
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Expert Interview
Dr. Korf explains how the disorder progresses over time.
[1:51]
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Personal Story
Andres shares his thoughts and concerns about having a family.
[:51]
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NF1 is an unpredictable disorder. Its severity varies widely, even between two people in the same family. Some people with NF1 may be completely unaware they're affected, going through life with only a few café-au-lait spots and bumps on the skin. Others may develop at any time specific medical and cosmetic complications related to the disorder. Although this uncertainty makes it difficult to know what to expect for a child with only café-au-lait spots, a few things are clear.

First, severe complications are by no means inevitable. There is a natural tendency for medical literature to be "biased" towards the more severe cases of the disorder, making them seem more common than they actually are. This occurs, in part, because only the more severely affected people are likely to be reported to the medical community. For every severely affected person who comes to medical attention, there may be several mildly affected people who do not seek medical care.

Second, some complications appear early in life. Major bone deformities associated with the disorder are usually apparent in infancy. A child who is 5 years old and has only café-au-lait spots has escaped some severe complications. While many people will have some cosmetic impact from the condition, more often than not, the problems are easy to manage.

Third, virtually no one with the disorder gets every possible complication, and most of the severe complications are uncommon. Although the definition of a "severe" problem may differ from one person to the next, most people with NF1 live long and productive lives, free of life-threatening complications.

Specific Complications of NF1
Although it is impossible to predict any one person's course of NF1, some of the more common complications associated with the disorder are described below, according to the period at which they are most likely to occur. You can read through to learn about each in succession or click on a link to learn about those related to a specific period.

Birth and Infancy l Preschool Years l School Age l Adolescence and Adulthood

Birth and Infancy
Most newborns with the NF1 gene mutation show few or no signs of the disorder. Café-au-lait spots often initially appear in the first few weeks of life, but their absence in a newborn at risk of inheriting NF1 is not a good indicator of whether or not the child has the disorder. The spots may show up later.

Neurofibromas are uncommon in infancy. One exception is the plexiform neurofibroma, a neurofibroma that most often affects multiple branches of large nerves. Plexiform neurofibromas often first appear in infancy as a soft swelling under the skin. However, their absence in a newborn is not a good indicator of whether or not one will appear later in life. Plexiform neurofibromas located deep under the skin may not emerge until they have grown.

NF1 is not usually associated with congenital malformations. However, tibial dysplasia and orbital dysplasia are two types of bone deformity related to the disorder. Both are rare, but when they do occur, they're almost always present at birth.

Tibial dysplasia is a deformity involving excessive bowing or curvature of the tibia, commonly known as the shin bone. If tibial dysplasia is suspected and confirmed through an X-ray, a child should be referred to an orthopedist for orthopedic care directed towards the prevention and management of fractures.

Orbital dysplasia is a deformity in the orbit, the bony wall behind the eye, and/or the bone behind it, the sphenoid. The deformity can result in a bulging, recessing, and downward displacement of the eye. In addition, plexiform neurofibroma within the orbit can grow over a period of years, resulting in an enlargement of the upper eyelid. X-ray or CT scanning can confirm the presence of orbital dysplasia.

It is rarely medically necessary to do anything about deformities of the orbit or sphenoid bone, but the cosmetic abnormalities often associated with orbital dysplasia are somewhat amenable to correction by plastic surgery.

Preschool Years
During this period, plexiform neurofibromas may emerge, a few skin-fold freckles may appear in the armpits or groin, and small neurofibromas may appear on the skin. These neurofibromas are soft to the touch, painless, and usually appear as small, pink or purple bumps on the skin. Most young children rarely have more than one or two small neurofibromas, and the rare young child with multiple neurofibromas does not necessarily develop additional severe complications of NF1 during later childhood.

Two abnormalities of growth are commonly noticed in preschool children: short stature and macrocephaly, an enlargement of the head. Children with NF1 are often shorter than would be expected for their family. The cause of this short stature is unknown. The macrocephaly related to NF1 rarely causes discomfort or neurological problems; the head grows at an abnormally fast, but still consistent, rate. In rare instances, macrocephaly may lead to hydrocephalus, an increased pressure resulting from fluid inside the brain. Symptoms of hydrocephalus include headache and vomiting, but only a CT or MRI scan can confirm a diagnosis.

A tumor of the nerve to the eye, called optic glioma, often emerges in early childhood, sometimes causing painful bulging of the eye and loss of vision as well as affecting pituitary hormone secretion. These types of optic gliomas are diagnosed by CT or MRI scanning and are generally responsive to radiation treatment or chemotherapy.

However, it is not uncommon to find evidence by CT or MRI scan of thickening of the optic nerve in children with NF1 who manifest no outward signs or symptoms of optic glioma. These cases rarely progress to a point of requiring treatment, but all children with NF1 should have annual ophthalmologic exams to insure early diagnosis of optic glioma.

School Age
Some of the physical features of NF1 mentioned above could begin or continue to appear through school age: skin-fold freckles may increase, plexiform neurofibromas may grow, and neurofibromas may become visible on the skin. In addition, tan bumps on the colored part of the eye called iris Lisch nodules may appear.

The school-age years mark the beginning of a child's formal education. As a result, it is often the first time a child's learning disability becomes apparent. Although research has not determined the exact frequency of learning disabilities in children with NF1, it could be as high as 25-50%.

The cause of learning disabilities in children with NF1 is not understood, although the NF1 gene mutation may somehow affect the parts of the brain associated with learning. The exact form and severity of learning difficulty varies from child to child and can involve any combination of visual, spatial, speech, language, reading, and math skills. In addition some children have attention problems, although true hyperactivity isn't any more common in children with NF1 than it is in the general public.

The management of learning disabilities in children with NF1 is the same as for all children with learning disabilities. A thorough assessment of the child's skills and areas of weakness should be undertaken with a child's school to develop an educational program designed to meet the child's special needs.

Adolescence and Adulthood
Adolescence is generally a time of change, including a change in the manifestations of NF1. Children who have not yet developed neurofibromas may begin to see skin neurofibromas during puberty. Pre-existing plexiform neurofibromas often grow at this time, and skin freckling may also increase. The cause of these changes is not well understood, but it is believed that changes in hormones may be responsible. Hormonal changes may also be related to the appearance or increased growth of neurofibromas that is seen in many women with NF1 during pregnancy. This raises the question of whether oral contraceptives should be avoided by women with NF1. Currently, there is no clear evidence that oral contraceptives are responsible for progression of neurofibromas, although the issue warrants further study.

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