Leschke Syndrome Explanation

Leschke syndrome is a hereditary disease that appears to correspond to a mild form of neurofibromatosis type 1. Slightly pronounced, benign tumors of the skin characterize the clinical picture alongside organic deformities and obesity. The therapy is purely symptomatic and depends on the symptoms in the individual case.

What is Leschke Syndrome?

So far, only a few cases of Leschke syndrome are known. The disease is presumably due to a genetic cause with a hereditary basis. An autosomal dominant inheritance is assumed for inheritance. See AbbreviationFinder for abbreviations related to Leschke Syndrome.

Neurocutaneous syndromes are hereditary diseases that include neuroectodermal and mesenchymal dysplasia. Leschke syndrome falls into this group of diseases and corresponds to a congenital disease with the main symptoms of café-au-lait spots and multiple malformations in the organs. In addition, there is often a lack of certain hormones.

The disease is named after Erich Friedrich Wilhelm Leschke. The German internist first described the disease in the 20th century. Synonymous terms are congenital pigment dystrophy and dystrophia pigmentosa. Some sources refer to the disease as an abortive form of generalized neurofibromatosis and primarily name the macular pigmentation as a cutaneous manifestation.


So far, only a few cases of Leschke syndrome are known. The disease is presumably due to a genetic cause with a hereditary basis. An autosomal dominant inheritance is assumed for inheritance. It is possible that many of the cases documented to date are clinical pictures based on a new mutation in the NF-1 gene. To be more precise, the genetic defect that causes the disease is located on chromosome 17.

The NF-1 gene encodes neurofibromin in the DNA. This is a protein that regulates the signal transduction protein RAS. The gene defect leads to a lack of regulation. The increasing activation of the RAS promotes the development of various neoplasias. This connection is also the basis of neurofibromatosis type 1. For this reason, Leschke syndrome is sometimes referred to as a mild form of neurofibromatosis type 1, which occurs without significant skin tumors.

Symptoms, Ailments & Signs

As children, patients with Leschke syndrome show multiple and differently pronounced café-au-lait spots on the skin, which are irregularly bordered. Only in later years are other symptoms added to the skin abnormalities. Many of those affected later report, for example, exhaustion or regular hyperglycemia attacks. In some cases, mental and physical developmental disabilities occur.

Additional organ malformations are typically present from birth. Genital dystrophies or adrenal insufficiency can also be symptomatic. Adrenal insufficiency results in a hormonal deficiency, which in turn can affect various organs and also affect the patient’s mood.

In many cases, those affected also develop obesity over the course of their lives, which manifests itself clinically in numerous accompanying symptoms. The skeletal changes of neurofibromatosis type I do not usually occur in Leschke syndrome. Changes in the central nervous system are also not necessarily observed.

Diagnosis & course of disease

The diagnosis of Leschke syndrome presents the doctor with a challenge. In most cases, the disease is not diagnosed immediately after birth because there are almost no symptoms. The first spots and symptoms of organ malformations, which are clearly manifested in imaging, only appear in childhood.

The diagnosis can then be made using molecular genetic analysis. In order to rule out malignant tumors on the skin, a biopsy is occasionally taken beforehand. In the case of Leschke syndrome, the biopsy is negative. The prognosis for patients with Leschke syndrome is considered favorable.


Due to Leschke syndrome, patients suffer from spots on the skin. These spots are brown in most cases and can also reduce the aesthetics of the affected person. It is not uncommon for patients to suffer from reduced self-esteem or inferiority complexes. Furthermore, the patient becomes exhausted and tired.

The quality of life is significantly reduced by Leschke syndrome. The development of the patient’s internal organs is also disturbed, so that various consequential damage can occur in adulthood, which can make everyday life more difficult. As a rule, the mental development of those affected is also delayed by Leschke syndrome, so that the patients are dependent on the help of other people in their everyday life.

Furthermore, if left untreated, renal insufficiency can result, which can lead to death if left untreated. Those affected often suffer from obesity and can also exhibit paralysis. A causal treatment of Leschke syndrome is not possible. The individual complaints can be partially restricted. However, this does not lead to a completely positive course of the disease.

The life expectancy of the person affected may be reduced due to Leschke syndrome. Parents and relatives are also often affected by Leschke syndrome, suffering from mental disorders or depression and need appropriate treatment.

When should you go to the doctor?

If signs of Leschke syndrome are noticed, the pediatrician should be informed immediately. The typical skin changes are clear warning signs that must be clarified. If physical and mental development disorders should also set in, a doctor must be consulted immediately with the symptoms. Since organ malformations are almost always present in Leschke syndrome, the disease must be diagnosed at an early stage in order to avoid serious complications or even the death of the child. If the child is severely irritable or behaving in some other unusual way, it is best to consult a therapist.

Appropriate treatment can also be useful for relatives, since Leschke syndrome is a significant burden for everyone involved. The organ disorders make constant monitoring by a specialist necessary. Affected people should therefore always consult their family doctor and go to a hospital if they have any unusual symptoms. Other contacts are internists, dermatologists, nephrologists and specialists in hormonal diseases. The initial diagnosis can be made in a specialist clinic for hereditary diseases.

Treatment & Therapy

There is no causal therapy available for patients with Leschke syndrome. The symptoms can only be treated symptomatically. The exact therapy depends on the symptoms in the individual case. As a rule, the manifestations on the skin do not require further treatment, as they are benign changes. If patients are bothered by skin spots, they are advised to use cosmetic coverings.

If that doesn’t satisfy you, an excision may be done. However, such an excision only makes sense for really large, significant manifestations. The obesity of those affected requires treatment, unlike the skin spots. The basic program against obesity includes nutritional therapy, exercise therapy and behavioral therapy. Dietary measures are thus combined with an increase in energy consumption and self-control training.

The therapy of adrenal insufficiency is in turn based on the hormonal failures in the individual case. Cortisol deficiency is treated with hormone replacement therapy. A lack of aldosterone is compensated by administration of fludrocortisone. DHEA deficiency is not necessarily compensated, since no officially approved preparations are available. All men are also treated with testosterone. Women may be given a special type of pill that contains the missing hormones.

Treating the organ malformations turns out to be more difficult than correcting the adrenal insufficiency. In most cases, these deformities can only be treated surgically. A transplant of the affected organ may also be necessary. If physical development disorders occur, physiotherapeutic treatment can be effective. In the case of mental development disorders, early support for those affected is an option. The symptomatic treatment options are correspondingly extensive.

Outlook & Forecast

The prognosis of Leschke syndrome is unfavorable. It is a disease that cannot yet be cured. For legal reasons, doctors and medical professionals are not allowed to change the genetics of the human organism. Therefore, a symptomatic therapy is initiated, which must take place lifelong for the affected person.

Since the average life expectancy of patients with this condition is shortened, medical help should be sought. If left untreated, the syndrome can lead to renal insufficiency and thus trigger the premature death of the affected person. In addition, disturbances in organ activity are possible, which can also lead to a loss of functional activity in severe cases.

Due to the adversities, the disease has an increased risk of subsequent disorders. The emotional stress can also lead to the development of a mental disorder. To improve the quality of life, different treatment approaches are carried out simultaneously. Since it leads to a mental and physical developmental disorder, the appropriate therapies should be started at an early stage.

At the same time, the development of the body’s activities must be monitored so that irregularities can be documented as quickly as possible. The prognosis improves if exercises and training units to improve mobility are carried out independently outside of the offered therapies. To support cognitive performance, family members can also provide support.


So far, no preventive measures are available for Leschke syndrome. The definitive causes of the complex of symptoms have not been conclusively clarified. However, if genetic and hereditary mutations are actually the cause of the syndrome, the symptom complex can at best be prevented by genetic counseling during pregnancy. However, new mutations are also conceivable if there is no genetic disposition for the disease in a family.


Follow-up care is usually very difficult in the case of hereditary diseases. Genetic defects or mutations can have serious consequences that can trigger severe disabilities. Sometimes those affected have to struggle with it for the rest of their lives.

Therefore, aftercare focuses primarily on making everyday life easier for those affected. This is done on the one hand by means of physiotherapeutic or psychotherapeutic measures. The extent to which successful treatment can be achieved depends on the severity of the disease.

General statements about the type of aftercare are only permissible to the extent that life is made easier for the patients concerned. The quality of life and lifespan can still be significantly reduced. In the case of many hereditary diseases, operations provide little relief. Postoperative follow-up care may be necessary.

Accompanying this, psychotherapeutic care can be useful if the ongoing stress leads to depression, feelings of inferiority or other mental disorders.

You can do that yourself

In the case of Leschke syndrome, the possibilities for self-help are relatively severely limited. The patients are dependent on symptomatic treatment since the syndrome cannot be treated causally.

Since the syndrome can lead to severe obesity, patients are dependent on a strict diet plan, which must be worked out and monitored in consultation with the doctor treating them or a nutritionist. Movement therapy also helps to counteract obesity and improve the quality of life of those affected. As a rule, the exercises from the therapy can also be carried out at home. This also applies to aspects of behavioral therapy, in which parents and relatives in particular have to encourage and support the patient.

Since Leschke syndrome often leads to renal insufficiency, patients should undergo regular examinations to rule out such complications. Contact with other affected people can also be very helpful and lead to an exchange of information, which may make everyday life easier. In the case of psychological complaints, relatives must support the patient, although discussions with close friends can also have a positive effect on the patient’s condition.