Morbus Recklinghausen

Morbus Recklinghausen: description

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

The first symptoms of neurofibromatosis type 1 usually occur during or after puberty, neurological symptoms often develop beyond the 40th year of life. The disease progresses slowly, a causal treatment is not possible. However, some complaints of Recklinghausen’s disease can be alleviated by appropriate therapies.

About one in every 3,000 people in Germany suffer from Reckenlinghausen’s disease every year. While the inherited form of NF1 is not gender specific, the disease affects men approximately twice as often when it is caused by a spontaneous change in the genome.

Morbus Recklinghausen: Symptoms

A particularly characteristic symptom of Recklinghausen’s disease is the formation of cutaneous nodules, which may be isolated at first and later numerous. These so-called cutaneous neurofibromas arise along the nerves that traverse the skin. They usually occur as a broad or stalked skin nodules on the entire body, the trunk is particularly often affected. The cutaneous neurofibromas may be located on the surface or palpable in the subcutaneous tissue.

In addition to the 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 sciatic nerves , In contrast to the cutaneous skin nodules, which only appear in the course of 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 pigmentation marks on the skin, which are also referred to as café-au-lait spots. These pigment spots can also occur in healthy people, but they are usually larger and more numerous in type 1 neurofibromatosis. Especially in the armpit and in the groin they are often found heaped and remind the appearance of freckles, which is why doctors describe this phenomenon in Recklinghausen disease as “Freckles” (Freckles freckles).

The superficial skin tumors of Recklinghausen’s Disease usually do not cause any health problems, but can put a lot of strain on the affected person under cosmetic aspects. In contrast, plexiform neurofibromas cause symptoms such as numbness and, more rarely, paralysis if, depending on their size and position, they impair the function of the corresponding nerve.

In addition to the characteristic symptoms of skin and nerves, the following additional complaints may occur in Recklinghausen’s disease:

• Bone changes: Bone cysts, broken bones, adhesions or deformations of the vertebral bodies, deformities on the cranial bone, spinal curvature (scoliosis)
• Eye changes: tumors along the optic nerve and associated impaired vision, small roundish, yellow-brown changes of the iris (so-called Lisch nodules)
• early puberty entry
• Tumors of the adrenal medulla (pheochromocytoma)
• Anomalies of blood vessels

In some cases, in Recklinghausen’s disease, the intelligence may be reduced.

Complications of Recklinghausen’s disease

Recklinghausen’s disease can lead to learning problems due to 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 cancerous and cancerous.

Other complications that occur in the context of Morbus Recklinghausen, usually caused by comorbidities and then depend on which organ system is affected.

Morbus Recklinghausen: causes and risk factors

The cause of Morbus Recklinghausen lies in the genes. Either the parents inherit the neurofibromatosis type 1 to their offspring, but in up to 50 percent of the cases it is caused by spontaneous changes of the hereditary material (so-called spontaneous mutation).

The gene on which the mutation is located usually causes the formation of a special protein (neurofibromin). This is instrumental in suppressing the formation of certain tumors (tumor suppressor). The genetic defect eliminates the protective effect of the neurofibroma so that the characteristic tumors of neurofibromatosis type 1 can arise.

Morbus Recklinghausen: examinations and diagnosis

To ask the diagnosis of Recklinghausen’s disease, the doctor initially interviews the patient in detail about the history of the disease (anamnesis). If the disease frequently occurs in the family, this already provides the doctor with an important clue. The typical skin lesions of neurofibromatosis type 1 already suggest the suspicion of the disease. The doctor therefore examines the skin in detail, in addition, an examination of the eyes and the skeleton is important to determine Morbus Recklinghausen.

To identify the skin nodes as a neurofibroma, the doctor may take a tissue sample (biopsy) and have it examined histologically. Tumors that are not externally visible can be detected by magnetic resonance imaging (MRI). The following criteria apply to the diagnosis “NF1”:

• There are six or more café-au-lait spots at least five millimeters across (in pre-pubertal patients) and 15 millimeters in adults.
• There are two or more cutaneous neurofibromas or a plexiform neurofibroma.
• In an eye exam, the doctor recognizes two or more Lisch nodules on the iris.
• There is a tumor of the optic nerve (optic glioma).
• In the underarm and groin area is a freckle-like skin pigmentation to see (“Freckling”).
• It is known that first-degree relatives of Recklinghausen’s disease are affected.
• The skeletal examination reveals certain bone changes, such as the skull, dorsal vertebrae, or long bones (e.g., bone cysts).

If two or more of the listed criteria are present, the diagnosis of Morbus Recklinghausen is considered assured.

Morbus Recklinghausen: Treatment

Since Morbus Recklinghausen is a hereditary disease, no causal therapy exists so far. However, it is possible to alleviate the symptoms of neurofibromatosis type 1, such as by surgically removing neurofibromas that cause discomfort or are particularly cumbersome. Other treatment options depend on the type of symptoms.

Morbus Recklinghausen: illness and prognosis

The prognosis for Recklinghausen’s disease mainly depends on the individual course of the disease. The disease is limited to the skin lesions, the disease is generally favorable. The prognosis worsens when malignant tumors develop from plexiform neurofibromas. In this case – as with all cancers – an early treatment time for the further course of Morbus Recklinghausen crucial.