Buschke-Ollendorff syndrome is an inherited connective tissue disorder. The rare disorder affects the skeleton and skin. What effects does Buschke-Ollendorff syndrome have on the human body and how can the disease be treated?
What is Buschke-Ollendorff syndrome?
Buschke-Ollendorff syndrome, also known by its Latin name dermatofibrosis lenticularis disseminata, was named after German dermatologist Abraham Buschke and German-American dermatologist Helene Ollendorff-Curth. The rare disease of the connective tissue is a combination of a change in the skin and a change in the skeleton. Typical manifestations include osteopoikilosis or short stature.
Causes
The very rare disease is genetic and thus not entirely curable. The cause of this defect is a mutation of a chromosome on the gene LEMD3. The so-called loss-of-function mutation occurs on this gene. This is a gene mutation that occurs in genetics. The consequence of this is a loss of function of the gene product in question. In Buschke-Ollendorff syndrome, the corresponding gene receives the instruction to produce a protein. The signaling pathways regulate various processes of the cell and the growth of the cells. This includes the growth of new bone cells. Mutation of the gene LEMD3 reduces the amount of functional proteins. This can, among other things, increase the density of bone. There is no clear evidence of this research.
Symptoms, complaints, and signs
The first symptoms can appear at any age category. Often, the first hallmarks are evident in childhood, with symptoms varying in severity, both in the bone and on the skin. In most cases, the skin lesions are painless and grow with time. This characteristic appears already some time after the birth of the child. These changes in connective tissue are only a few millimeters in size and are mainly located on the hands and legs, as well as on the trunk of the body. Osteopoikilosis is a benign and accidentally discovered malformation in the bone. This bone malformation is not diagnosed until adulthood and very rarely. Small, round areas are visible in the bone, indicating increased bone density. This is recognizable in the X-ray image in the form of bright spots. The malformations and skin changes usually do not cause any complaints and therefore the diagnosis is very difficult to confirm. Buschke-Ollendorff syndrome is diagnosed by pure chance in the majority of cases.
Diagnosis and course
To properly diagnose Buschke-Ollendorff syndrome, other tests are performed in addition to a genetic test. A simple laboratory examination is not sufficient for this disease of the human organism. The changes in the skin are confirmed by histological findings. The skin lesions are examined microscopically by staining the tissue sections. Through this diagnostic procedure, abnormalities of the connective tissue of varying severity can be detected. The elastic fibers and collagen fibers are particularly affected. These are responsible for the tensile strength of the tissue. The skin lesions are located in a confined space and close together. The color is whitish to yellow and the shape is oval. The size is between that of a pea and a lens. X-rays of the hands and feet are taken to detect changes on the skeleton. Because lesions on the bones are usually overlooked in childhood, these hallmarks of Buschke-Ollendorff syndrome are not discovered until older age. Typical bone changes are not noticed until the age of 15. The X-ray shows increased and slightly thickened trabeculae, which are small balls on the bone. These anomalies of the bone should not be confused with bone metastases or melorheostosis (thickening of the bone). If pain occurs, Buschke-Ollendorff syndrome should not be immediately inferred. Several of the patient’s complaints must coincide in order to include this hereditary disease in the diagnosis. If people suffer from joint swelling or frequent joint effusions, this does not mean that the examinations will reveal Buschke-Ollendorff syndrome.
Complications
In many cases, Buschke-Ollendorff syndrome is diagnosed late, so treatment may be delayed. This is because affected individuals usually do not experience pain or other discomfort from the syndrome. Either malignant or benign malformations of the bones can occur. Usually, the diagnosis itself is made by chance during a checkup. In many cases there is also swelling or effusion of the joints. For the patient, there are usually no further complaints or complications. For this reason, treatment of Buschke-Ollendorff syndrome is not necessary in every case. If there are visible abnormalities on the skin, these regions can be treated. This is usually done with the help of medications or ointments. This always results in a positive course of the disease without further complaints or complications. Diagnosis often proves difficult, as even on x-rays the effects of Buschke-Ollendorff syndrome on the bones are only slightly visible. It also usually affects only young adults, starting at age 15. Life expectancy is not affected by Buschke-Ollendorff syndrome.
When should you see a doctor?
In most cases, Buschke-Ollendorff syndrome is diagnosed in childhood. In this case, a doctor should be consulted when the patient suffers from various changes on the skin. Although these are not associated with pain, they should always be examined by a doctor. This can prevent further complications. The co-growth of these skin changes may also indicate the syndrome. For this reason, the patient’s bones should also be examined for changes. The bone density itself is increased, which can be determined by an X-ray. Even if the children suffer from no other symptoms or limitations, an early diagnosis is important. The diagnosis can be made by a general practitioner or a pediatrician. Further treatment usually takes place with the help of ointments or tablets, so that no special doctor is required for this. The earlier the disease is diagnosed, the better the symptoms can be limited and treated.
Treatment and therapy
In order to recognize Buschke-Ollendorff syndrome as such, the patient’s family history is also of great importance. Not all affected individuals suffer from the same signs. When suffering from skin abnormalities, there is not necessarily a bone abnormality and vice versa. Generally, Buschke-Ollendorff syndrome does not cause any symptoms. However, in order to avoid incorrect treatment of the symptoms, a detailed diagnosis of the disease is necessary. The sooner the disease is correctly diagnosed, the sooner the appropriate therapy can be started. If necessary, the skin abnormalities are treated symptomatically at the affected skin site. The treatment can be done with ointments or tablets. The correct method of therapy is individually adapted to the patient and the severity of the complaints. In the case of severe skeletal symptoms, appropriate medication is prescribed. However, there are no known cases that have reached such a severe level.
Outlook and prognosis
Buschke-Ollendorff syndrome cannot be treated causally. Only the individual symptoms can be treated, and thus a complete cure remains elusive. As a rule, affected individuals suffer from various malformations, which can vary in severity. The further course and treatment of the disease also depend on these malformations, as surgical interventions are usually necessary to alleviate them. Only the affected skin areas are treated symptomatically. Complications do not occur. The earlier the therapy of the syndrome begins, the higher the chances of a positive course of the disease. So far, there are no known serious cases of Buschke-Ollendorff syndrome in which the life expectancy of the affected person has been reduced. Although the patients are dependent on permanent treatment and use of ointments and medications, they are not or only very slightly restricted in their everyday life. Pain does not occur on the skin. Changes to the skeleton can also be corrected, although these are usually only recognized at a young age.
Prevention
Because Buschke-Ollendorff syndrome is a difficult disease to recognize, it is not easy to assign symptoms correctly. Because it is a genetically inherited disease, it cannot be counteracted. The probability that a disease is in the gene is very low. For every 20,000 births worldwide, on average only one person suffers from Buschke-Ollendorff syndrome. Even if the hereditary disease is diagnosed, it has no effect on life expectancy. Patients have a good health prognosis and, thanks to modern medicine, any symptoms that may occur can be completely contained. Extensive diagnostics are necessary at the first signs of the disease.
Aftercare
As a rule, the person affected by Buschke-Ollendorff syndrome has no direct options for aftercare. The disease can only be treated symptomatically and not causally, so the affected person is usually dependent on lifelong therapy. This may also result in a reduced life expectancy. Since the treatment of Buschke-Ollendorff syndrome is usually carried out with the help of tablets, creams or ointments, the affected person must ensure that these medications are taken or applied regularly. Likewise, possible interactions with other medications should be considered and discussed with a physician. The symptoms usually do not restrict the affected person particularly severely, so that the patient can live an ordinary life. Similarly, there are no known particularly severe manifestations of Buschke-Ollendorff syndrome. Since in some cases Buschke-Ollendorff syndrome can also lead to psychological complaints or depressive moods, a psychologist should be consulted in these cases. However, conversations with friends or with the family can also be helpful to avoid such complaints. Furthermore, in the case of Buschke-Ollendorff syndrome, contact with other people affected by the syndrome is also helpful, as this can lead to an exchange of information.
What you can do yourself
Buschke-Ollendorff syndrome can be treated well nowadays. The patient can additionally support recovery by maintaining strict personal hygiene and caring for the affected areas according to the doctor’s instructions. It is also important to use the prescribed care products. Medicinal ointments and lotions must be applied regularly, especially in the area of the skin lesions, to promote wound healing and prevent scarring. The patient should also avoid sun exposure and skin contact with harmful substances. This can be achieved by wearing suitable clothing, for example. People who expose their skin to great stress at work should consider changing jobs. In addition, regular checks are part of the necessary self-help. Anyone who notices unusual areas on other parts of the body or has an allergic reaction to the prescribed medication should inform their doctor. The physician can often give further tips on how the patient can support the treatment. First and foremost, it is important to take it easy and rest so that the body can recover sufficiently. Depending on the cause of the syndrome, further measures may be useful, which affected persons can discuss with their family doctor.
