Neurofibromatosis Type 1 (NF1, Von Recklinghausen Disease)

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Neurofibromatosis Type 1 (NF1, Von Recklinghausen Disease)
Neurofibromatosis Type 1 (NF1, Von Recklinghausen Disease)

Video: Neurofibromatosis Type 1 (NF1, Von Recklinghausen Disease)

Video: Neurofibromatosis Type 1 (NF1, Von Recklinghausen Disease)
Video: What is Neurofibromatosis Type 1 (NF1)? 2023, March

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1, Von Recklinghausen disease) is a rare genetic disease that is characterized primarily by the occurrence of benign and malignant tumors, especially of the skin and the nervous system but also, for example, of the breast. It is named after the so-called neurofibromas, which are benign tumors, often visible as skin nodes, which originate from the sheaths of peripheral nerves and are particularly characteristic of this group of diseases.

In addition to the occurrence of tumors, other changes in the skin, bones, blood vessels and eyes are typical. In addition, neuro-psychological deficits such as attention disorder, learning difficulties and partial performance disorders can arise.


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  • What are the symptoms?
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  • How is neurofibromatosis type 1 treated?
  • Whom can I ask?
  • How are the costs going to be covered?

Neurofibromatosis type 1 (NF1) ranks among the rare diseases to the comparatively common clinical pictures. Type 1 neurofibromatosis affects around 1 in 3,000 newborns. In around half of the children, the disease is inherited from one of the parents, but in the other half the parents themselves are not affected. The disease can be passed on to offspring by a person with a 50 percent risk.

The much rarer type 2 neurofibromatosis differs significantly from type 1 neurofibromatosis, namely with regard to the development or the causal genetic defect as well as the severity and course of the disease. Only type 1 neurofibromatosis is described here in this text.

What are the symptoms?

With neurofibromatosis type 1, the first symptoms appear in infancy. It affects girls and boys alike. Flat, light brown patches of skin - so-called "café au lait" ("coffee with milk" stains) - usually appear during the first few weeks of life and become more numerous over time. These spots are completely harmless in themselves and can occur in small numbers in otherwise healthy people. However, if there are six or more such spots in a child, this indicates neurofibromatosis type 1. The other symptoms vary greatly from person to person and only appear over time. It is therefore often difficult to establish the diagnosis at an early stage.

How is the diagnosis made?

Typical clinical features for diagnosing neurofibromatosis type 1 are:

  • Six or more café au lait spots greater than 5 mm in diameter before puberty or 15 mm after puberty
  • two or more neurofibromas or at least one so-called plexiform neurofibroma;
  • freckle-like skin pigmentation in the armpit or groin area;
  • Tumor of the optic nerve (called optic glioma);
  • two or more Lisch nodules on the iris of the eye (iris hamartoma);
  • characteristic bone changes (curvature of the shin or changes in the skull bone, scoliosis)
  • a first-degree relative (i.e. parent, brother or sister, child) suffers from neurofibromatosis type 1.

A prerequisite for the diagnosis of neurofibromatosis type 1 is that at least two of these indicators are present. In addition, a genetic analysis that detects the defect in the NF1 gene on chromosome 17 can also be performed to confirm the diagnosis. If the presence of type 1 neurofibromatosis and the causal genetic defect are already known in a family, a genetic analysis can also be carried out prenatally. However, one should be aware that no conclusion can be drawn from this about the later severity of the disease. The severity of symptoms can also vary considerably within a family.

How does neurofibromatosis type 1 proceed?

The severity of the symptoms and the severity of the course vary greatly from person to person and cannot be predicted. For example, some patients with a mild form only have “café au lait” spots and individual neurofibromas. You may not even notice the disease.

In the majority of cases, the prognosis is good and life expectancy is not significantly limited. Nevertheless, more or less serious complications occur regularly. These include bone malformations, short stature, developmental delay in children, complications from various tumors, vascular diseases and high blood pressure.

Malignant tumors and changes in the blood vessels are the most common life-threatening symptoms. Rapidly growing or painful lumps or new neurological symptoms can indicate a malignant tumor and must be clarified quickly. The risk of breast cancer is increased in women with neurofibromatosis type 1 from the age of approximately 35 years. Therefore, early examinations for the early detection of breast cancer are recommended.

How is neurofibromatosis type 1 treated?

A cure for the disease is currently not possible. Regular medical examinations are important in order to identify complications and treat them early. The various symptoms must be treated by specialists in the respective medical fields. Physiotherapeutic care, appropriate support for learning disorders, etc. contribute significantly to improving symptoms and quality of life.

Whom can I ask?

If you suspect neurofibromatosis type 1, you can contact the following offices:

  • Specialist in paediatrics and adolescent medicine (pediatrician)
  • General practitioner
  • Specialist in neurology
  • Specialist in skin diseases
  • Hospital with a department for paediatrics or a special outpatient department for neuropediatrics or pediatric neuro-oncology

Note At the University Clinic for Paediatrics and Adolescent Medicine of the Medical University of Vienna (in the Vienna General Hospital) there is an expertise center or a specialized outpatient department for neurofibromatosis.

The NF Kinder patient organization provides further information, advice and help, for example when looking for medical contacts, for people of all ages and their relatives.

You can also find information on neurofibromatosis on Orphanet.

How are the costs going to be covered?

The e-card is your personal key to the benefits of the statutory health insurance. All necessary and appropriate diagnostic and therapeutic measures are taken over by your responsible social insurance agency. A deductible or contribution to costs may apply for certain services. You can obtain detailed information from your social security agency. Further information can also be found at:

  • Right to treatment
  • Visit to the doctor: costs and deductibles
  • What does the hospital stay cost?
  • Prescription fee: This is how drug costs are covered
  • Rehabilitation & cure
  • Medical aids & aids
  • Health Professions AZ

and via the online guide to reimbursement of social insurance costs.

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