Are you expecting and have got a pea-sized pink lump on or under your skin? Do you notice freckles appearing in your armpit or under the breast during pregnancy? If you are nodding along worriedly, you may be suffering from neurofibromatosis.
Read our post to learn about the causes, symptoms, and treatments for neurofibromatosis in pregnancy.
What Is Neurofibromatosis?
Neurofibromatosis or NF1, popular as von Recklinghausen’s disease, is a common genetic condition affecting one among 3,000 to 5,000 individuals. Neurofibromin or NF1 gene handles the production of a protein that regulates the growth of the nerve tissue. The protein curbs the tissue growth once it achieves a specific size. However, individuals with NF1 condition, have a faulty gene that leads to uncontrolled tissue growth or tumors in the nervous system.
For most individuals, the condition is mild. However, neurofibromatosis can become a major health concern during pregnancy (1).
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Causes Of Neurofibromatosis In Pregnancy:
Neurofibromatosis occurs due to a faulty gene on chromosome number 17. The condition is either genetic or occurs due to spontaneous mutation.
In about 50% cases of neurofibromatosis, the mutated gene passes down from a parent to the child due to autosomal dominant mutation. Even if one parent possesses the faulty gene, the baby is at risk of suffering from the genetic disorder.
2. Spontaneous Mutation:
The mutation may occur spontaneously in either sperm or egg just before the conception stage. It is sporadic in nature as it is yet unclear as to what triggers it (2).
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Symptoms Of Neurofibromatosis:
Here is a list of the symptoms that accompany the condition:
- Development of freckles in body parts not open to the sun, such as the armpit or genital areas.
- Flat, coffee-colored marks on skin
- Development of tiny lumps in the colored part of Iris
- An increase in the number of neurofibromas i.e. soft, pink, small lumps on nerves anywhere in your body. Neurofibromas, particularly, increase in number during pregnancy.
- Plexiform neurofibromas i.e. localized body areas in which a tangle of nerve tissue occurs between normal tissues.
- Learning difficulties
- Bone problems
- Risk of cancer due to the rapid growth of neurofibromas (3)
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Diagnosing Neurofibromatosis During Pregnancy:
Usually, it is not possible to test for neurofibromatosis during pregnancy. However, you can visit a genetic center to discuss the condition with a doctor. Usually, pregnant women experiencing an increase in the number or size of neurofibromas should seek immediate medical attention.
Treating Neurofibromatosis During Pregnancy:
Even though there is no cure for NF1, certain measures can prevent the condition from aggravating. It will help to increase the life expectancy. Here are some treatment options for NF1 while expecting:
Pregnant females need to check whether there is an increase in the number or size of neurofibromas. Monitoring also involves a detailed skin examination for neurofibromas, examination of both the eyes, bone assessment, blood pressure measurement, and a general health checkup.
Surgery is another effective treatment to treat NF1. Surgery may involve removal of tumors and reducing the bone abnormalities. Post surgery the doctor may suggest a follow-up radiotherapy and chemotherapy to minimize the risk of relapses of neurofibromas. Discuss your pregnancy with your doctor to ensure the safety of your unborn baby before going for a surgery.
The doctor may also prescribe certain medications to treat high blood pressure while you are expecting. If you are suffering from behavioral problems, the doctor may recommend a safe yet effective therapy (4).
In most cases, careful monitoring and the right treatment can control the NF1 condition and ensure a safe pregnancy.
Did you suffer from neurofibromatosis during pregnancy? What treatment did the doctor advise? Share your experience with other expecting mothers here.
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