Neurofibromatosis type 1 (NF1): cause, symptoms, evolution, treatment

Neurofibromatosis appears from birth and affects both men and women. According to the National Professional Center for Hepato-Gastroenterology, the prevalence of this disease is 1/3000 to 1/4000. It is mainly manifested by café-au-lait skin spots and the presence of tumors along the nerves (neurofibromas). Find out what are the symptoms, causes and treatments for neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) or Recklinghausen’s disease (name of the German doctor who identified it in 1882) designates a genetic disease evolutionary among the most frequently encountered. It affects individuals of both sexes equally. A person with NF1 has a one in two chance of transmitting the disease to their child. Its degree of severity as well as its clinical manifestations vary from case to case, including within the same family. In the majority of patients, there are cafe-au-lait spots on the skin, benign tumors or malignant on or under the skin, central or peripheral nerve tumors, lentigines (age spots or freckles) in the groin or armpits. However, NF1 can affect other organs such as the eyes (gliomas of the optic nerve), the lungs, the digestive system or affect the bones (scoliosis-type deformity, etc.).

The symptoms of neurofibromatosis type 1 are extremely variable from one patient to another, including within a (…)

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