Also known as osteopoikilosis, osteopathia condensans disseminata, or spotted bones, osteopoikilosis is a form of bone malformation. It occurs extremely rarely and is benign. The international classification according to ICD-10 is Q78.8.
What is osteopoikilosis?
Osteopoikilosis is characterized by compaction or hardening in bone tissue. Hamburg surgeon and radiologist Heinrich Albers-Schönberg first described osteopoikilosis in 1915. The name was given by two French authors as early as 1917. The densifications occur primarily in the pelvic bones, the long bones, and the tarsal and hand bones. Predominantly, they are found near blood vessels in the growth zones of the bones, the metaphyses. However, the end pieces, medically called epiphyses, may also be affected. Oval, round but also elongated condensations can be observed. The thickness varies from one millimeter to slightly more than two centimeters. 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 the greatest. In the fibula and splint bones, the densifications show up rather rarely. Vertebral bodies, ribs and skull are almost never affected.
Causes
The origin and cause of osteopoikilosis have not yet been determined. Initially, inactivated remodeling of lamellar bone to spongy bone was suspected. However, proof of this hypothesis has not yet been provided. In the meantime, a genetic defect has been speculated. However, clear evidence of this is equally lacking. However, the results of several studies would explain this theory. In them, a frequency of occurrence among family members was found, which could indicate an autosomal dominant inheritance. However, the possible sporadic occurrence of osteopoikilosis and the detection in fetal bone could also be explained by a genetic defect. On the other hand, disorders of mineral metabolism could undoubtedly be excluded as a cause. The same applies to a possible increased bone remodeling in these regions. Corresponding evidence in a skeletal scintigraphy could not be found.
Symptoms, complaints, and signs
Osteopoikilosis progresses without the appearance of symptoms. The approximately 400 cases known worldwide to date are incidental findings as well as findings made in studies of family members of affected individuals. In the absence of tangible signs of bone thickening, the exact number of cases is in the dark. By reviewing thousands of X-rays from a Vienna trauma hospital, researchers have already tried to pin down any incidence. Nevertheless, the language ranges from 0.1 cases per million people to about twelve cases per 100,000. From the known cases and studies, it can be inferred that men are affected more often than women. The amount of foci in the bones varies. However, even in spite of a large density of foci, as is usually found in the pelvic bones, indications of osteopoikilosis are not noticeable. Thus, there are no relevant laboratory chemical changes, nor do mild or severe fractures occur simultaneously. Similarly, compaction is irrelevant in the healing of fractures caused elsewhere.
Diagnosis and disease progression
Osteopoikilosis can be diagnosed exclusively by radiologic examination. Even with a scintigraphy of the skeleton, the consolidations remain invisible. They appear to occur in childhood, develop with adolescence, and subsequently stagnate. Rarely have the densifications been observed to resolve or decrease in number.
Complications
Due to osteopoikilosis, affected individuals suffer from various malformations of the bones. These malformations can thereby considerably restrict and also complicate the patient’s everyday life, so that osteopoikilosis is usually also associated with a significant reduction in the quality of life. In this case, the patient’s bones are less dense and can therefore break very easily even with light loads or impacts. For this reason, patients with osteopoikilosis must take special precautions against accidents and dangerous sports. Furthermore, in some cases, the patient may also experience pain.Fractures thus heal less well due to osteopoikilosis, so that a long recovery process is usually necessary. However, life expectancy itself is not affected or otherwise reduced due to the disease. Furthermore, childhood development may possibly also be restricted, so that those affected continue to suffer from various complaints in adulthood. If a tumor is responsible for osteopoikilosis, it may be possible to remove it. Furthermore, it is not uncommon for patients to suffer from joint problems and thus, in some cases, to be dependent on the help of other people in their daily lives. Psychological stress can also occur in the process and have a negative impact on the patient’s quality of life.
When should you go to the doctor?
When hardening occurs around the bones, consultation with a physician should be made. Osteopoikilosis is manifested by various deformities that can occur in the arms, legs, shoulders, sternum and spine. The benign bone malformations are usually noticed in early childhood. Parents who notice such signs in their child should consult the pediatrician. Otherwise, the bone changes may increase and form malignant degenerations. Osteopoikilosis cannot be treated to date, but requires monitoring so that the degenerations mentioned can at least be treated symptomatically. Affected children may also require physiotherapeutic 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, the necessary screenings should be performed. The orthopedist or an oncologist is responsible. Regular screenings can be done in the hospital and often in the doctor’s office.
Treatment and therapy
Treatment of osteopoikilosis is not necessary and, according to current knowledge, is not possible par excellence. However, it should be clarified in principle in the case of an incidental finding that it is indeed osteopoikilosis and not malignant malignancies or metastases in the bones. Extremely rarely, an active form of osteopoikilosis appears. However, due to a lack of cases, pharmaceutical research is lacking in this regard and treatment with bisphosphonates is currently resorted to. Bisphosphonates were developed in the 1980s for the treatment of bone diseases, such as osteoporosis. They are administered parenterally. Slightly more than ten percent of patients with osteopoikilosis complain of joint problems despite the actual lack of symptoms. It is currently not clear whether the cause of this actually lies in the compressions or whether there is a connection between them. Even the largest study on osteopoikilosis to date has not been able to provide any all-encompassing information on the disease. It was conducted in Turkey at the beginning of the 1990s and involved four patients with an incidental finding. The study also failed to provide any clue as to why the skin-altering Buschke-Ollendorf syndrome (dermatofibrosis lenticularis disseminata) and dacryocystitis (Gunal-Seber-Basaran syndrome) in particular occur as concomitant diseases. The former is seen in about ten percent of affected individuals. A relationship to melorheostosis, on the other hand, is currently still being discussed. Melorheostosis is a pathological thickening of the bones. Like osteopoikilosis, it also occurs extremely rarely, is associated with no significant symptoms, and is usually discovered only by chance on radiological images.
Outlook and prognosis
The disease cannot be cured according to current medical and scientific possibilities. One challenge so far is to clarify the cause of the development of the health condition. Suspected, due to a familial frequency of occurrence of the changes in bone structure, is a genetic disposition by researchers so far. If this assumption is confirmed, a cure is currently not permitted due to legal requirements. The genetics of the human being may not be changed, so that a possible treatment concentrates on the alleviation of existing irregularities and health complaints. In addition, it is controlled whether secondary disorders or other impairments in everyday life develop. In most cases, osteopoikilosis is diagnosed due to an incidental finding.Most often, those affected are undergoing treatment for other health conditions. In the process, osteopoikilosis is noticed. Since the disease in patients is usually characterized without the appearance of other symptoms, they do not require further treatment for changes in bone structure. For the purpose of observation, regular checks of the health condition are advisable over the lifespan. As soon as changes or abnormalities are noticed, appropriate action is taken by medical personnel. Further tests are carried out to clarify the cause of the peculiarities. Often, this involves differentiating osteopoikilosis from diseases with a difficult or unfavorable course.
Prevention
Since the cause and development of osteopoikilosis have not yet been clarified, it is also not possible to initiate preventive measures. The low probability of developing osteopoikilosis and the asymptomatic course make prevention seem nonsensical anyway. The usual bone-building measures, such as the intake of large amounts of calcium, are also ineffective. In any case, the marginal layers of bone and bone marrow are not altered in osteopoikilosis.
Follow-up
In most cases, direct follow-up measures for osteopoikilosis prove to be relatively difficult. In this regard, affected individuals must see a physician at a very early stage to prevent other complications or discomfort from occurring as the disease progresses. Since the disease is a congenital malformation, it cannot be completely cured. If the patient wishes to have children, he or she should undergo genetic testing and counseling in order to prevent a recurrence of osteopoikilosis. In most cases, the treatment itself is carried out by means of various surgical procedures by which the tumors can be removed. After such an operation, affected persons should rest and take care of their body. They should refrain from exertion and from stressful or physical activities. Regular check-ups and examinations by a doctor are also very important after the operation in order to detect the occurrence of other tumors at an early stage and to remove them. In many cases, osteopoikilosis also limits the life expectancy of those affected, although a general course cannot be predicted.
Here’s what you can do yourself
Sufferers of osteopoikilosis should compensate for incorrect postures of the body in time. Loads and shocks of any kind should be avoided. They can lead to bone fractures and thus further worsen the general well-being. The practice of sporting activities should be designed in consideration of the disease. In particular, participation in martial arts or team sports should be refrained from. Leisure activities, household chores and professional activities should also be organized on the basis of the patient’s physical capabilities. Appropriate footwear should be worn for all work to be performed. The shoes should be closed and stable and should not have high heels. The disease represents a strong psychological burden for the affected person. For this reason, psychotherapeutic support is recommended. In addition, it is important to engage in activities that increase the joy of life and the quality of life. Stressors can be reduced independently by using mental and relaxation techniques. Conflict situations are to be recognized and reduced at an early stage, so that no unnecessary emotional stress arises. For many patients, an exchange with other patients is pleasant and helpful. In nationwide self-help groups, communication with other sufferers can be sought and established at any time. In joint discussions, experiences are exchanged and assistance is provided. Mutual understanding often has a beneficial effect on dealing with the disease and provides new impetus for coping with the circumstances.
