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Neurofibromatosis type 1 (Morbus Recklinghausen)

by Josephine Andrews
Published: Last Updated on 368 views

Neurofibromatosis type 1 (Morbus Recklinghausen) is a hereditary disease that affects various organ systems, but especially the skin and the nervous system. In addition to neurofibromatosis type 1 (NF1), doctors distinguish between other forms, neurofibromatosis type 2 and type 3. Read all about the symptoms, life expectancy and therapy of neurofibromatosis type 1 here!

ICD codes for this disease:

ICD codes are internationally valid codes for medical diagnoses. They can be found, for example, in doctor’s letters or on certificates of incapacity for work.

Q85 C47 D33

quick overview

  • Symptoms: skin nodules, pigment spots, bone changes, eye changes, blood vessel abnormalities, high blood pressure , etc
  • Course and prognosis: variable, worse prognosis in the case of malignant tumors, life expectancy reduced by about 15 years
  • Causes and Risk Factors: Mutation of NF-1 gene is the cause
  • Diagnostics: Using standardized criteria
  • Treatment: Surgical removal of the nodules, drugs that slow down tumor growth

What is neurofibromatosis?

Neurofibromatosis type 1 (NF1 or Recklinghausen’s disease for short) is a genetic disease. Doctors count them among the so-called phakomatoses. These are clinical pictures that are associated with the formation of certain, mostly benign tumors of the skin and nervous system. In addition, Recklinghausen’s disease causes changes in the bones and in the vessels of the skin, eyes and brain.

There are other forms of neurofibromatosis. Learn more about neurofibromatosis type 2 here.

Neurofibromatosis: what are the symptoms?

People with neurofibromatosis type 1 experience a range of symptoms and conditions that affect the skin, nerves, bones, and blood vessels .

skin changes

A particularly characteristic symptom of neurofibromatosis type 1 is the formation of skin nodules , which are initially isolated and later appear in large numbers. These so-called cutaneous neurofibromas develop along the nerves that run through the skin. They usually appear as broad or pedicled skin nodules on the entire body, with the trunk being particularly frequently affected. The cutaneous neurofibromas are either superficial or, in other cases, palpable in the subcutaneous tissue.

In addition to the always benign cutaneous neurofibromas in Recklinghausen’s disease, so-called plexiform neurofibromas are a hallmark of neurofibromatosis type 1. These often elongated, worm-like tumors originate from the large peripheral nerve branches, which are responsible for the movement of arms and legs, for example from the sciatic nerve .

Another indication of Recklinghausen’s disease are certain pigment spots on the skin, which are also known as café-au-lait spots . Although these pigment spots also occur in healthy people, they are usually larger and more numerous in neurofibromatosis type 1. They are often found more frequently, especially in the armpit area and in the groin. Because their appearance is reminiscent of freckles, doctors refer to this phenomenon in Recklinghausen’s disease as “freckling” (English: freckles = freckles).

The superficial skin tumors in neurofibromatosis usually do not cause any health problems, but often put a heavy strain on those affected from a cosmetic point of view. In contrast, plexiform neurofibromas cause symptoms such as numbness, and more rarely paralysis, if – depending on the size and location – they impair the function of the corresponding nerve.

More symptoms

In addition to the characteristic skin and nerve symptoms, neurofibromatosis type 1 may have other symptoms:

  • Bone changes: Bone cysts, broken bones, adhesions or deformations of the vertebral bodies, deformations of the skull bones, curvature of the spine ( scoliosis )
  • Eye changes: tumors along the optic nerve and associated reduced vision, small roundish, yellow-brown changes in the iris (so-called Lisch nodules), tumor on the optic nerve (optic glioma)
  • Premature onset of puberty
  • Tumors of the adrenal medulla ( pheochromocytoma )
  • Blood vessel abnormalities and high blood pressure
  • ADHD , hyperactivity

In some cases, neurofibromatosis is associated with reduced intelligence.

Neurofibromatosis in children and babies

Neurofibromatosis in babies is usually first seen by the café-au-lait spots, which are usually noticeable in the first few weeks of life. Neurofibromas are very rare in babies and young children, with the exception of plexiform neurofibromas.

NF 1 is sometimes also manifested by abnormalities on the face: Due to a malformation of the bone behind the eye socket , a so-called sphenoid dysplasia, the affected eye protrudes and shifts.

As a result of changes in the nervous system, children with neurofibromatosis sometimes have developmental delays, resulting in slower motor and language development. Some children also have problems paying attention and learning. Behavioral problems, limitations in social behavior and physical clumsiness are other possible symptoms of neurofibromatosis 1 in children.

In addition, the head of children with NF 1 sometimes grows faster, which they sometimes feel as a result of headaches or vomiting.

What is the life expectancy?

The prognosis for Recklinghausen’s disease depends primarily on the individual course of the disease. If the disease is limited to the skin changes, the course of the disease is generally favorable. The prognosis worsens when malignant tumors have formed from plexiform neurofibromas. In this case – as with all cancers – early treatment is crucial for the further course of Recklinghausen’s disease.

Life expectancy is reduced by about 15 years in people with neurofibromatosis.

What causes neurofibromatosis?

The cause of neurofibromatosis lies in the genes. The NF1 gene is mutated in those affected. This gene normally ensures the formation of a special protein (neurofibromin). This is significantly involved in suppressing the development of certain tumors (tumor suppressor). The protective effect of neurofibromin is lost due to the genetic defect, so that the characteristic tumors of neurofibromatosis type 1 develop.

In about half of the cases, the parents passed the genetic defect on to their children. In the other half, it occurred as a result of spontaneous changes in the genetic material (so-called spontaneous mutation).

How is neurofibromatosis diagnosed?

In order to make the diagnosis of Recklinghausen’s disease, the doctor first asks the patient in detail about the medical history ( anamnesis ). If the disease runs frequently in the family, this already provides the doctor with important information. The typical skin changes of neurofibromatosis type 1 already raise the suspicion of the disease. The doctor therefore examines the skin in detail, and an examination of the eyes and skeleton is also important to determine Recklinghausen’s disease.

In order to identify the skin nodules as a neurofibroma, the doctor may take a tissue sample ( biopsy ) and have it examined for histological (histopathological) examination. Tumors that cannot be seen externally can be detected using magnetic resonance imaging (MRI).

The following criteria apply to the “NF1” diagnosis:

  • There are six or more café-au-lait spots that are at least 5 millimeters in diameter (in prepubertal patients) or 15 millimeters in adults.
  • There are two or more cutaneous neurofibromas or one plexiform neurofibroma.
  • During an eye exam, the doctor will see two or more Lisch nodules on the iris.
  • There is a tumor of the optic nerve (optic glioma).
  • Freckle-like skin pigmentation (“freckling”) can be seen in the armpit and groin area.
  • First-degree relatives are known to have neurofibromatosis type 1.
  • Bei der Untersuchung des Skeletts finden sich bestimmte Knochenveränderungen, etwa am Schädel, den Rückenwirbeln oder in den langen Röhrenknochen (z. B. Knochenzysten).

If two or more of the above criteria are present, the diagnosis of neurofibromatosis type 1 is considered to be secure.

How is neurofibromatosis treated?

Since neurofibromatosis type 1 is a hereditary disease, there is currently no causal therapy. Morbus Recklinghausen is therefore not curable. However, it is possible to relieve the symptoms of neurofibromatosis type 1:

It is possible to remove neurofibromas that cause symptoms or are particularly cosmetically stressful as part of an operation with a scalpel or laser .

drug is also available for people with neurofibromatosis type 1. The active ingredient selumetinib has now been approved in Europe. This active ingredient prevents tumors from growing and sometimes even shrinks them.

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