Recklinghausen's disease

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Recklinghausen's disease (neurofibromatosis type 1) is a hereditary disease that affects various organ systems, especially the skin and the nervous system.In addition to neurofibromatosis type 1 (NF1), which is also known as Recklinghausen's disease after its discoverer Friedrich Daniel von Recklinghausen, doctors differentiate between another form, neurofibromatosis type 2.

ICD codes for this disease: ICD codes are internationally recognized codes for medical diagnoses. They can be found, for example, in doctor's letters or on certificates of incapacity for work. Q85C47D33

Recklinghausen's disease: description

Recklinghausen's disease (neurofibromatosis type 1, NF1 for short) is a genetic disease. Doctors count them among the so-called phakomatoses. This is understood to mean clinical pictures that are associated with the formation of certain - predominantly benign - tumors of the skin and the nervous system. In addition, Recklinghausen's disease causes changes in the bones as well as in the vessels of the skin, eyes and brain.

The first symptoms of neurofibromatosis type 1 usually appear during or after puberty; neurological complaints often only develop after the age of 40. The disease progresses slowly and causal treatment is not possible. However, some symptoms of Recklinghausen's disease can be alleviated with appropriate therapies.

Around one in 3,000 people in Germany develop Recklinghausen's disease every year. While the inherited form of NF1 is not gender-specific, the disease affects men about twice as often if it is caused by a spontaneous change in the genetic make-up.

Recklinghausen's disease: symptoms

As a particularly characteristic symptom of Recklinghausen's disease, skin nodules are formed, which can appear sporadically at first, later numerous. These so-called cutaneous neurofibromas develop along the nerves that run through the skin. They usually appear as broad or pedunculated skin nodules all over the body, with the trunk being particularly often affected. The cutaneous neurofibromas can be on the surface or 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 the sciatic nerves . In contrast to the cutaneous skin nodules, which only appear in adulthood, plexiform neurofibromas are often present from birth. In five to ten percent of cases, plexiform neurofibromas degenerate into malignant tumors.

Another indication of Recklinghausen's disease are certain pigment spots on the skin, which are also known as café-au-lait spots. These pigment spots can also occur in healthy people, but they are usually larger and more numerous in neurofibromatosis type 1. Especially in the armpit area as well as in the groin they are often found in large numbers and are reminiscent of freckles in appearance, which is why doctors also refer to this phenomenon in Recklinghausen's disease as "freckling" (freckles = freckles).

The superficial skin tumors in Recklinghausen's disease usually do not cause any health problems, but can be very stressful for those affected from a cosmetic point of view. In contrast, plexiform neurofibromas cause symptoms such as numbness and, more rarely, paralysis if - depending on their size and location - they impair the function of the corresponding nerve.

In addition to the characteristic symptoms on the skin and nerves, the following other complaints can occur with Recklinghausen's disease:

Bone changes: bone cysts, broken bones, adhesions or deformations of the vertebral bodies, deformations of the skull bone, curvature of the spine (scoliosis)
Eye changes: Tumors along the optic nerve and the associated impaired vision, small roundish, yellow-brown changes in the iris (so-called Lisch nodules)
premature onset of puberty
Adrenal medulla tumors (pheochromocytoma)
Blood vessel abnormalities

In some cases, Recklinghausen's disease can reduce intelligence.

Complications in Recklinghausen's disease

Recklinghausen's disease can lead to problems with learning as a result of changes in the nervous system in children. It is also possible that their motor and language skills develop more slowly. In five to ten percent, plexiform neurofibromas can become malignant and develop into cancer.

Further complications that occur in the context of Recklinghausen's disease are mostly caused by concomitant diseases and then depend on which organ system is affected.

Recklinghausen's disease: causes and risk factors

The cause of Recklinghausen's disease lies in the genes. Either the parents pass on type 1 neurofibromatosis to their offspring, but in up to 50 percent of cases it arises from spontaneous changes in the genetic material (so-called spontaneous mutation).

The gene on which the mutation is located is normally responsible for the production of a special protein (neurofibromin). This is significantly involved in suppressing the formation of certain tumors (tumor suppressor). Due to the genetic defect, the protective effect of neurofibromin is no longer available, so that the characteristic tumors of neurofibromatosis type 1 can develop.

Recklinghausen's disease: examinations and diagnosis

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 occurs more frequently in the family, this provides the doctor with important information. The typical skin changes of neurofibromatosis type 1 already suggest the suspicion of the disease. The doctor therefore examines the skin in great detail, and an examination of the eyes and the skeleton is also important in order to determine Recklinghausen's disease.

In order to identify the skin nodules as neurofibroma, the doctor may take a tissue sample (biopsy) and have the tissue examined (histopathologically). Tumors that cannot be seen externally can be detected using magnetic resonance imaging (MRI). The following criteria apply to the diagnosis "NF1":

There are six or more café-au-lait spots that are at least five millimeters in diameter (in pre-puberty patients) or 15 millimeters in adults.
There are two or more cutaneous neurofibromas or one plexiform neurofibroma.
During an eye exam, the doctor will recognize two or more Lisch nodules on the iris.
There is a tumor of the optic nerve (optic glioma).
A freckle-like skin pigmentation can be seen in the armpit and groin area ("freckling").
It is known that first-degree relatives have Recklinghausen's disease.
When examining the skeleton, certain bone changes are found, for example in the skull, the vertebrae or in the long tubular bones (e.g. bone cysts).

If two or more of the criteria mentioned are present, the diagnosis of Recklinghausen's disease is considered confirmed.

Recklinghausen's disease: treatment

Since Recklinghausen's disease is a hereditary disease, there is currently no causal therapy. However, it is possible to alleviate the symptoms of neurofibromatosis type 1, for example by surgically removing neurofibromas that cause discomfort or are particularly cosmetically stressful. Other treatment options depend on the type of symptoms.

Recklinghausen's disease: disease course and prognosis

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 cancer diseases - an early treatment time is decisive for the further course of Recklinghausen's disease.

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