Leschke syndrome is a hereditary disorder that appears to correspond to a mild form of neurofibromatosis type 1. Mild, benign tumors of the skin, along with organic malformations and obesity, characterize the clinical picture. Therapy is purely symptomatic and thus depends on the symptoms in each individual case.
What is Leschke syndrome?
Neurocutaneous syndromes are hereditary diseases involving neuroectodermal and mesenchymal dysplasias. Leschke syndrome falls into this group of disorders and corresponds to a congenital disease with the leading symptoms of café-au-lait spots and multiple malformations in the organs. In addition, there is often a deficiency 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 pigmentary dystrophy and dystrophia pigmentosa. Some sources refer to the disease as an abortive form of neurofibromatosis generalisata, citing mainly macular pigmentation as the cutaneous manifestation.
Causes
To date, only a few cases of Leschke syndrome have been reported. Presumably, the disease has a genetic cause with a hereditary basis. Inheritance is thought to be autosomal dominant. It is possible that many of the cases documented so far are disease patterns based on a new mutation in the NF-1 gene. To be more precise, the disease-causing gene defect is located on chromosome 17. The NF-1 gene codes for neurofibromin in the DNA. This is a protein that regulates the signal transduction protein RAS. The gene defect results in a lack of regulation. The increasing activation of RAS promotes the development of various neoplasms. This connection also underlies neurofibromatosis type 1. For this reason, Leschke syndrome is sometimes referred to as a mild form of neurofibromatosis type 1 that occurs without significant tumors of the skin.
Symptoms, complaints, and signs
As children, patients with Leschke syndrome show multiple and variably distinct café-au-lait patches on the skin that are irregularly circumscribed. Only in later years do other symptoms join the skin abnormalities. Many affected persons later report, for example, fatigue or regular hyperglycemic attacks. In some cases, mental and physical developmental disorders occur. Typically, additional organ malformations are present from birth. Genital dystrophies or adrenal insufficiency may also be symptomatic. Adrenal insufficiency results in hormonal deficiency, which in turn can affect various organs and, moreover, the patient’s mood. In many cases, affected individuals also develop obesity during their lifetime, which manifests clinically in numerous accompanying symptoms. The skeletal changes of neurofibromatosis type I do not usually occur in Leschke syndrome. Central nervous system changes are also not necessarily observed.
Diagnosis and disease progression
Diagnosis of Leschke syndrome is challenging for physicians. In most cases, the condition is not diagnosed immediately after birth because virtually no symptoms are present. It is not until childhood that the first spots and symptoms of organ malformations appear, which are clearly manifested on imaging. The diagnosis can then be made by molecular genetic analysis. To exclude 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.
Complications
Due to Leschke syndrome, patients suffer from patches on the skin. These spots are brown in most cases, and in the process can also reduce the aesthetics of the affected person. It is not uncommon for patients to suffer from reduced self-esteem or inferiority complexes as a result. Furthermore, the patient also suffers from fatigue and tiredness. The quality of life is significantly reduced by the Leschke syndrome. The development of the patient’s internal organs is also disturbed, so that various consequential damages 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’s syndrome, so that patients are dependent on the help of other people in their daily lives. Furthermore, without treatment, renal insufficiency occurs, which can lead to death if left untreated. It is not uncommon for those affected to suffer from obesity and may also have paralysis. A causal treatment of Leschke’s syndrome is not possible. The individual complaints can be partially limited. However, this does not result in a completely positive course of the disease. It is possible that the life expectancy of the patient is limited due to Leschke syndrome.
life expectancy of the affected person. Also, parents and relatives are not infrequently affected by Leschke syndrome of mental disorders or depression and require appropriate treatment.
When should one 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 need to be clarified. In addition, if physical and mental developmental disorders develop, a physician must be consulted immediately with the symptoms. Since organ malformations are almost always present in Leschke syndrome, the disease must be diagnosed early to avoid serious complications or even death of the child. If the child is severely irritable or behaves unusually in some other way, it is best to consult a therapist. Appropriate treatment may also be useful for family members, as Leschke syndrome places a significant burden on all involved. The organ disturbances make ongoing monitoring by a specialist necessary. Affected individuals should therefore always consult their family physician and seek hospital care if they show unusual signs of illness. Other contacts are internists, dermatologists, nephrologists and specialists in hormonal disorders. The initial diagnosis may be made in a specialist clinic for hereditary diseases.
Treatment and therapy
Causal therapy is not available to patients with Leschke syndrome. The symptoms can only be treated symptomatically. Thus, the exact therapy depends on the symptoms in each 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 the skin spots, they are advised to have cosmetic coverage. If this does not satisfy them, excision may be performed in some circumstances. However, such excision only makes sense in cases of really large, significant manifestations. Affected individuals’ obesity, unlike skin patches, may very well require treatment. The basic program against obesity includes diet therapy, exercise therapy and behavior therapy. Dietary measures are thus combined with an increase in energy consumption and self-control training. Therapy for adrenal insufficiency is again based on the hormonal deficiencies in the individual case. Cortisol deficiency is treated by hormone replacement therapy. Deficiency of aldosterone is compensated by administration of fludrocortisone. DHEA deficiency is not necessarily compensated for, as there are no officially approved preparations available. All men are also treated with testosterone. Women may be given a special type of pill that contains the missing hormones. More difficult than correcting the adrenal insufficiency turns out to be the treatment of the organ malformations. In most cases, these malformations can only be treated surgically. Transplantation of the affected organ may also be necessary. If physical developmental disorders occur, physiotherapeutic treatment can be helpful. In the case of mental developmental disorders, early support for the affected person may be considered. The symptomatic treatment options are accordingly wide-ranging.
Outlook and prognosis
The prognosis of Leschke syndrome is unfavorable. It is a disease that, to date, cannot be cured. For legal reasons, doctors and physicians are not allowed to change the genetics of the human organism. Therefore, symptomatic therapy is initiated, which must be lifelong for the affected person. Since the average life expectancy of patients with this disease is shortened, medical help should be sought.If left untreated, the syndrome can lead to renal insufficiency and thus trigger the premature demise of the affected person. In addition, organ dysfunction is possible, which can also lead to a loss of functional activity in severe cases. The disease has an increased risk of secondary disorders due to the adversities. Due to the emotional stresses, it is also possible for a psychological disorder to develop. To improve the quality of life, different treatment approaches are carried out simultaneously. Since there is a mental as well as physical developmental disorder, the appropriate therapies should be started at an early stage. In parallel, the development of organ activity must be monitored so that irregularities can be documented as soon as possible. The prognosis improves if exercises and training units to improve mobility are also performed independently outside of the therapies offered. Encouragement can also be provided by family members to support cognitive performance.
Prevention
To date, no preventive measures are available for Leschke syndrome. The definitive causes of the complex of symptoms have not been conclusively determined. However, if genetic and hereditary mutations are indeed the cause of the syndrome, the symptom complex can at best be prevented by genetic counseling during pregnancy. However, new mutations are still conceivable even if there is no genetic predisposition to the disease in a family.
Follow-up
Follow-up care is usually very difficult with hereditary diseases. Genetic defects or mutations can have such serious consequences, causing severe disabilities. Sometimes those affected have to struggle with this for the rest of their lives. For this reason, 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 treatment successes can be achieved depends on the severity of the disease. Generalized statements about the type of aftercare are only permissible to the extent that life is made as easy as possible for the patients concerned. Quality of life and lifespan may nevertheless be considerably limited. In many hereditary diseases, surgery provides little relief. If necessary, postoperative follow-up care is required. Accompanying psychotherapeutic care may be useful if depression, feelings of inferiority, or other psychological disorders occur due to the ongoing stress.
What you can do yourself
In Leschke syndrome, self-help options are relatively limited. Patients are thereby 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 attending physician or a nutritionist. Exercise 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 in the patient’s own home. This also applies to aspects of behavioral therapy, in which parents and relatives in particular must 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 persons 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, and conversations with close friends can also have a positive effect on the patient’s condition.
