Learn more about neurofibromatosis
In this article, we would like to examine the neurofibromatosis disease. Coffee milk spots or café au lait are one of the first signs of this dangerous disease. Leish nodule, skin neurofibroma tumors, optic glioma gland, and bone lesions are among the consequences of this dangerous disease. It is considered that genetics and father’s age play a big role in getting this condition.
It is a genetic disease. The skin, bones, and nerve cells are affected. It is inherited by autosomal dominant. That is, if one of the parents is affected, there is a twenty-five percent chance of the child being affected in each pregnancy. But in fifty percent of cases, there is no family history at all. Genetic changes due to the reasons Unknown causes it during pregnancy. Of course, sometimes the father’s age plays a role in causing it. But in many cases, no specific reason can be found.
Signs and symptoms:
- Coffee milk stains or cafe eule: coffee stains of at least five millimeters in diameter and at least six in number. There are no symptoms since the first year of birth, they appear in puberty and youth, and they disappear gradually in adulthood. One or two coffee milk spots are seen in fifteen percent of normal people, which has nothing to do with this disease. These spots should be at least six with The minimum diameter of five mm below the age of puberty and fifteen mm above the age of puberty to be accepted as a sign of this disease. These spots are the first signs of neurofibromatosis that develop.
- axillary freckles or armpit freckles; Spots such as freckles and freckles are created on the armpits, groin, or neck. These spots usually appear between the ages of three and five. They usually appear first on the groin. They are like brown milk spots, but they are much smaller in size.
- Lash nodule: It is a kind of spot inside the eye. It can only be seen by an ophthalmologist with a special device. It can be seen only in ten percent of children under six years old, but it can be seen in ninety percent of adults. These spots inside the eye have no symptoms and will not cause any problems and are only useful for diagnosis. The signs of neurofibromatosis develop gradually over the years. If there is any doubt about the diagnosis of a child, their parents can be checked for leish nodules. .
- Skin neurofibroma tumors: soft lumps under the skin that usually appear around puberty. And gradually their number increases. There are different types of them. The subcutaneous type is the most common. They do not have the risk of turning into malignant tumors. If they are bothersome in appearance, the only way to treat them is surgery.
- Glioma optic tumor: It is a type of tumor that occurs in the optic nerve. The probability of its occurrence is 15% in children under six years of age. It usually does not occur in adults. Most of the time it is asymptomatic. The progression is visual acuity. Another symptom is premature puberty. This occurs when the gland enlarges and affects the hypothalamus of the brain. Therefore, premature puberty in a person with neurofibromatosis is an important symptom that should be considered.
- Bone lesions of neurofibromatosis also affect the bones. Protrusions along the arm or leg bones that look like a joint. Other symptoms are spinal deviation. If it is diagnosed in the early stages, there are ways to treat it. Easy fragility. Bones are another symptom of neurofibromatosis bone involvement. Short stature is another symptom of this disease
- Family history of similar disease in blood relatives of the patient. If there are two of the above seven symptoms, it can be said that a person has neurofibromatosis
What points should a person with neurofibromatosis consider?
The risk of developing high blood pressure is high. Blood pressure should be checked from time to time. The risk of developing certain tumors is high. The risk of osteoporosis is also high. A person with neurofibromatosis should be examined once a year. The following items are considered in the examination.
1- Clinical examination in terms of growth, height, weight, head circumference, blood pressure and bone examination
2- Eye examination: complete eye examination in terms of vision
3- Examination in terms of signs of puberty: armpit growth, breast size, genital examination
4- Investigation in terms of memory and learning problems
5- Examination in terms of academic progress
6- Examining new lumps on the skin
In short, although there are many skin symptoms, the affected person should be under the supervision of a pediatrician, pediatric neurologist and ophthalmologist.
Online doctor