Osteopoikilosis is characterized by compaction or hardening in the bone tissue. The Hamburg surgeon and radiologist Heinrich Albers-Schönberg described osteopoikilosis in 1915 for the first time. The naming by two French authors took place already in 1917.
The densifications occur mainly in the pelvic bones, the long bones and the tarsal and hand bones. They are predominantly found near bloodstreams in the growth zones of the bones, the metaphyses. However, the end pieces, medically called epiphyses, may also be affected. You can observe oval, round but also elongated densities.
The strength varies from one millimeter to just over two inches. Often the densifications are arranged along a straight chain. In osteopoikilosis, almost the entire skeleton is affected in gradations. In the finger and carpal bones, the probability of occurrence is greatest. In calf and tibia, the densities are rare. The vertebral body, ribs and skull are almost never affected.
The origin and cause of osteopoikilosis is not yet clear. Initially, inactivated remodeling of the lamellar bone to spongy bone was suspected. However, no proof of this thesis could be provided so far. In the meantime, there is speculation about a genetic defect. However, clear evidence on this is missing equally. On the other hand, this theory would explain the results of several studies.
In them, a frequency of occurrence among family members was found, which could indicate an autosomal dominant heredity. But the possible sporadic appearance of osteopoikilosis and the evidence in the fetal bone could be explained by a genetic defect.
Disruptions of the mineral metabolism, however, could undoubtedly be ruled out as cause. The same is true of a possible increased bone remodeling in these regions. Corresponding evidence in skeletal scintigraphy can not be found.
Osteopoikilosis occurs without the appearance of symptoms. The number of known cases worldwide has been around 400, and these are incidental findings as well as findings from studies of family members of those affected. Since there are no noticeable signs of bone compaction, the exact number of cases is in the dark.
By examining thousands of x-rays of a Viennese accident hospital, researchers were already trying to pin down any frequency. Yet, the language is from 0.1 cases per one million people to about twelve cases per 100, 000. From the known cases and studies it can be seen that men are affected more often than women. The amount of herds in the bones varies.
But despite the large density of the herd, as it is usually found in the pelvic bone, indications of osteopoikilosis are not noticeable. For example, there are no relevant changes in the laboratory chemistry or even mild or severe fractures. In the same way, densifications are irrelevant in the healing of fractures caused by others.
Only by radiological examinations is osteopoikilosis diagnosable. Even with scintigraphy of the skeleton, the densities remain invisible. They seem to appear already in childhood, develop with the growth and stagnate afterwards. Rarely has it been observed that the densities dissolve again or their number decreases.
Due to osteopoikilosis sufferers suffer from various malformations of the bones. These malformations can considerably restrict the everyday life of the patient and make it more difficult, so that the Osteopoikilose is usually associated with a significant reduction in the quality of life. The bones of the patient are less dense and can thus easily break even under light loads or shocks.
For this reason, patients with osteopoikilosis need special protection against accidents and dangerous sports. Furthermore, in some cases it can also cause pain. Fractures thus heal less well due to osteopoikilosis, so that usually a long recovery process is necessary. However, the life expectancy itself is not influenced or otherwise reduced due to illness.
Furthermore, the development of the child may also be limited, so that the affected persons also suffer from various complaints in adulthood. If a tumor is responsible for osteopoikilosis, it may be removed. Furthermore, patients often suffer from joint problems and are thus dependent in some cases on the help of other people in their everyday lives. A psychological burden can also occur and have a negative effect on the quality of life of the patient.
If hardening occurs in the area of the bones, consultation with a doctor should be held. Osteopoikilosis manifests itself through various deformations that can occur on the arms, legs, shoulders, sternum and spine. The benign bone malformations are usually noticed in early childhood. Parents who find appropriate signs in their child should consult the pediatrician. Otherwise bone changes may increase and form malignant degeneration.
The Osteopoikilose can not be treated so far, however, requires a monitoring, so that mentioned degeneracies can be treated at least symptomatically. Affected children may also need physiotherapy treatment. Since osteopoikilia is a genetic disease, a diagnosis can be made immediately after birth. If there are already cases of the disease in the family, then you should do the necessary screening. The orthopedist or an oncologist is responsible. The regular check-ups can be performed in the hospital and often in the doctor's office.
Treatment of osteopoikilosis is not necessary and according to current knowledge absolutely impossible. However, in a chance finding, it should be clarified that it is indeed osteopoikilosis and not malignant malignancies or metastases in the bones.
Extremely rarely an active form of osteopoikilosis appears. Due to a lack of cases, however, pharmaceutical research is lacking and treatment with bisphosphonates is currently being used. Bisphosphonates were developed in the 1980's for the treatment of bone diseases such as osteoporosis. Administration is parenteral. Just over ten percent of patients with osteopoikilosis complain about joint problems despite the actual symptoms.
Whether the cause for this is actually in the densifications or is a connection, is currently not clear. Even the largest study of osteopoikilosis to date has not provided all-encompassing information on the disease. It was performed in Turkey at the beginning of the 1990s and was diagnosed with four patients with a chance finding.
The study also did not suggest why the skin-altering Buschke-Ollendorf syndrome (Dermatofibrosis lenticularis disseminata) and dacryocystitis (Gunal-Seber-Basaran syndrome) occur as comorbidities. The former can be observed in about ten percent of those affected.
A relationship to melorheostosis, however, is currently still being discussed. Melorheostosis is a pathological thickening of the bones. It, like osteopoikilosis, is extremely rare, is accompanied by no significant discomfort and is usually discovered by chance on radiological images.
The disease can not be cured according to the current medical and scientific possibilities. So far, a challenge has been to clarify the cause of health development. Due to a familial frequency of the occurrence of the changes of the bone structure, a genetic disposition is suspected by researchers so far. If this assumption is confirmed, a cure is currently not allowed due to legal requirements. Human genetics must not be changed, so that possible treatment focuses on relieving existing irregularities and health complaints. In addition, it is checked whether subsequent disorders or other impairments develop in everyday life.
In most cases, osteopoikilosis is diagnosed on the basis of a chance finding. Most of the victims are due to other health problems in a treatment. At the same time osteopoikilosis is noted. Since the disease is usually characterized in patients without the appearance of further symptoms, no further treatment of bone structure changes is needed. For the purpose of observation, regular health checks are recommended over the lifespan. As soon as changes or abnormalities are noticed, the medical staff reacts accordingly. Further tests are made to clarify the cause of the peculiarities. Often it is a distinction of Osteopoikilose to diseases with a difficult or unfavorable disease course.
Since the cause and development of osteopoikilosis have not yet been clarified, the introduction of preventive measures is not possible. The low probability of developing osteopoikilosis and the asymptomatic course make prevention appear nonsensical anyway.
Other usual bone augmentation measures, such as the delivery of larger amounts of calcium, are also ineffective. In any case, the marginal layers of bone and bone marrow are not altered in osteopoikilosis.
In most cases, the measures of direct follow-up for osteopoikilosis are relatively difficult. Patients have to go to a doctor very early to avoid further complications or other complaints. Since the disease is a congenital malformation, it can not be completely cured.
If you wish to have children, sufferers should have genetic testing and counseling to prevent recurrence of osteopoikilosis. In most cases, the treatment itself is carried out by various surgical interventions, by means of which the tumors can be removed. After such a procedure, sufferers should rest and protect their body.
It should be apart from efforts and stressful or physical activities. Even after the procedure, regular checks and examinations by a doctor are very important to detect the appearance of other tumors at an early stage and to remove them. In many cases, the osteopoikilosis also limits the life expectancy of those affected, although a general course can not be predicted.
Diseased people with osteopoikilosis should compensate for poor posture in good time. Loads and impacts of any kind are to be avoided. They can lead to bone fractures and thus worsen the general well-being further. The exercise of sports activities is to be designed in consideration of the disease. In particular, the participation in combat or team sports should be omitted.
The leisure activities, houseworks as well as the professional activities should also be organized according to the physical possibilities. For all work to be done, the right footwear must be worn. The shoes should be closed and stable and not have high heels.
The illness represents a strong psychological stress for the person concerned. For this reason, a psychotherapeutic accompaniment is advisable. In addition, activities that increase the joy of life and the quality of life are important. Through the use of mental and relaxation techniques, stressors can be independently broken down. Conflict situations must be recognized early on and reduced, so that no unnecessary emotional burdens arise.
For many patients sharing with other patients is pleasant and helpful. In nationwide self-help groups, communication with other stakeholders can be sought and developed at any time. In joint discussions, experiences are exchanged and help given. The mutual understanding often helps to treat the disease and brings new impulses in coping with the circumstances.