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You are currently on the topic Symptoms of Neurofibromatosis Type 1. On our further pages you will find information on the following topics:
- Neurofibromatosis type 1
- Life expectancy and therapy for neurofibromatosis type 1
- Neurofibromatosis type 2
- Symptoms of neurofibromatosis type 2
Café-au-lait stains and speckles
The first reason for presentation to a doctor or human geneticist is often the so-called café-au-lait stains, which usually appear in early childhood. At least six of them must be present and they must have a diameter of at least 0.5 cm before puberty and 1.5 cm after that. The spots are found in more than 99% of those affected and represent an increase in melanocytes.
However, café-au-lait stains are also found in other clinical pictures or even in healthy persons. Therefore further criteria are needed. In more than 40% of the patients, additional skin changes in the axel and groin are also found.
These are freckle-like pigmentations, also known as speckles or freckling. Another feature is the neurofibroma specific for NF1. These are usually benign tumors of the nerve connective tissue, which are found in more than 99% of patients.
They occur at the latest until puberty and rarely degenerate into malignant tumors. Size and number can vary greatly, but at least two of them must be present. Since neurofibromas can occur all over the body, they are often a cosmetic problem and an increased accumulation of mast cells in the fibromas can cause excruciating itching due to histamine release.
Plexiform Neurofibromas
So-called plexiform neurofibromas represent a rather functional problem. These tumors grow together like a network and can lead to the displacement of organs. With a probability of 5-10%, these plexiform neurofibromas can degenerate malignantly.
Skeletal deformities
Skeletal deformities are deformations of bones. People affected by neurofibromatosis often show skeletal deformities in addition to skin and nerve changes. Spine and skull are particularly affected.
The spinal column shows a lateral curvature with simultaneous hump formation, which the physician calls kyphoscoliosis. The skull is also frequently affected by a malformation of the sphenoid bone. This dysplasia of the os sphenoidale of the base of the skull can alter the orbit in such a way that the eyeball, an exophthalmos, protrudes. Other factors that can cause stress are short stature, asymmetry of the head, recurring joint dislocations or pathological fractures.
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