Common Symptoms of Neurofibromatosis Type 1 (NF1)

Introduction

Did you know some conditions can be passed down to you if your parents have them? Yes, these are called hereditary diseases or genetic disorders. They happen because of changes in our DNA (deoxyribonucleic acid). DNA is like our special instruction book, telling our body how to grow and function.

Among many such genetic disorders, one is neurofibromatosis type 1, or NF1 for short. Because of the genetic changes, the body grows tumors (don’t worry; they are non-cancerous tumors called neurofibromas). These tumors grow in places like the skin, brain, etc. They also cause other symptoms.

This article will tell you about the common symptoms of NF1. Let's read.

What Is Neurofibromatosis Type 1 (NF1)?

NF1, also called Von Recklinghausen's disease (because it was first documented by a pathologist from Germany named Friedrich Daniel von Recklinghausen), is a genetic disorder. Here, the changes in the DNA (called genetic mutation) occur in the NF1 gene. This gene is present on chromosome 17. This is inherited as an autosomal dominant condition, which means even if one parent has the genetic mutation, there is a 50 % chance their child will develop the condition. An interesting fact about this is that about 1 in 3000 individuals has NF1, so it’s actually not a rare disease. Individuals with NF1 can present with many signs. Let’s have a look.

Common Symptoms of Neurofibromatosis Type 1

As said before, there are many different symptoms of NF1. These symptoms usually start to show up after the baby is born or during childhood, but they can vary from one person to another.

1. Skin-Related Symptoms:

• Café Au Lait Spots: These are flat, brownish patches on the skin. A lot of babies are born with this, which is normal. However, if the child has six or more patches with a diameter of more than 0.19 inches (0.59 inches in adults), it can be a sign of NF1. This is considered a main sign to diagnose NF1. These signs usually appear when the baby is very little or during the first year of life.

• Freckling: No, these are not from the sun! In NF1, these are tiny light brown spots much smaller than café au lait spots. These show up in clusters that look like a group of dots together. These appear in places like the armpits (referred to as Crowe's sign), under the breast, or in the groin. These freckles usually appear later than café au lait spots, around 3 to 5 years of age.

• Neurofibromas: These are soft bumps that can grow along the nerves or anywhere in the body but can also grow deeper. These are formed from the connective tissues that surround the nerves. But don’t worry, these are not cancerous. It is of three types: localized, plexiform, and diffuse. Plexiform is usually more dangerous than the other two because these grow on large nerves and sometimes cause pain, numbness, or weakness.

2. Eye-Related Symptoms: It’s not just the skin; NF1 can affect eyes, too!

• Lisch Nodules: These are like tiny bumps that appear on the eye's iris (colored part of your eye). These bumps are made up of melanocytes (which produce melanin) and are brown. Almost everyone (90 to 100 percent of adults) with NF1 has it. These bumps may increase as one gets older.

• Optic Pathway Gliomas: These are tumors that occur in the optic pathway (which contains the retina, optic nerve, etc.). They can cause vision issues or bulging of the eye called proptosis. The optic pathway connects the eye to the brain. Around 15 to 20 out of every 100 kids may have this symptom.

• Eyelid and Orbital Neurofibromas: Soft bumps grow on the eyelids and orbit (eye sockets). Don’t worry, these are also not cancerous. Plexiform neurofibroma is more common in this area. These can also cause vision issues, bulging of the eye, drooping of the eyelid, or sometimes they can even change the shape of the face.

• Others: Some people with NF1 may have other rare symptoms too, like glaucoma (damage to the optical nerve causing vision loss itself) or retinal hamartomas (tumors grown on the retina, which is present at the back of the eye).

3. Bone and Physical Symptoms: NF1 can also affect bones.

• Scoliosis: The spine is curved to the side, more like the letter C or S. This can happen before age 5. There are two types: dystrophic and non-dystrophic. Dystrophic is more serious and aggressive, starts early, and has other spinal issues, too. Sometimes, it can cause nerve problems if the spinal cord is pressed too much. Whereas, non-dystrophic is more common, with just an abnormal curve of the spine.

• Bone Deformities: Out of 100, 10 to 20 kids may be affected by this. Let's see how it affects the bones.

  • Tibial Dysplasia: Causes bowing of the legs (mostly the tibia).

  • Bone Dysplasia: It causes abnormal growth of bone.

  • Pseudarthrosis: Here, when the bone breaks, it doesn’t heal properly, causing non-union of the bone.

  • Low Bone Mineral Density: This increases the risk of fractures. Leading to something called osteoporosis.

  • Non-ossifying Fibromas: These are tumors of bones. These are also non-cancerous.

  • Sphenoid Wing Dysplasia: Here, the sphenoid bone, which is present in the middle of the skull base, doesn't grow properly.

  • Short Stature: Kids with NF1 may be short.

  • Kyphosis: Here, the spine curves and causes a rounded back.

  • Macrocephaly: Here, the size of the head is big.

• Other Physical Symptoms: NF1 may also cause delays in developmental milestones, high blood pressure, seizures, and even headaches.

The symptoms of NF1 don’t stop here; it even affects the brain!

4. Neurological and Developmental Symptoms: Let’s see how it affects the brain.

• Learning Disabilities: Kids with NF1 can have trouble with things like reading, writing, or solving math problems.

• Attention-Deficit and Hyperactivity Disorder (ADHD): In this condition, the kids may have a hard time focusing, but they may be very active and act even without thinking. This is more common.

• Epilepsy and Seizures: This doesn’t happen to every kid with NF1, but some may get it.

• Motor and Speech Delays: Kids may take longer to walk or talk clearly.

• Cognitive Impairment: Kids may struggle with memory, thinking abilities, judgment, paying attention, and decision-making. About 8 out of 10 kids may struggle with cognitive impairment.

Conclusion:

NF1 is a condition that can be passed down from the parents. But sometimes, it can also happen on its own because of new genetic changes that occur suddenly, referred to as sporadic changes. NF1 symptoms in children are many and not the same in everyone. How NF1 affects someone depends on how severe the symptoms are. Even though there is no cure, they can live a near-normal life with proper treatment.

Key Note From iCliniq

NF1 can be a complex condition because it comes with many symptoms. These symptoms usually start appearing during childhood or at birth. Right now, there is no cure. But it can be managed with the help of doctors. If someone in your family or friends has this, you can always seek help from iCliniq doctors to handle it better.