Osteopoikilosis, also known as osteopoikilosis, osteopathia condensans disseminata or spotted bones, 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 of the bone tissue. The Hamburg surgeon and radiologist Heinrich Albers-Schönberg first described osteopoikilosis in 1915. The name was given by two French authors in 1917. See theinternetfaqs for Food Allergy Basics.

The compressions occur mainly in the pelvic bones, the tubular bones and the tarsal and hand bones. They are mainly found near the blood vessels in the growth zones of the bones, the metaphyses. However, the terminal pieces, medically called the epiphyses, can also be affected. Obvious are oval, round but also oblong densifications.

The thickness varies from one millimeter to a little over two centimetres. The compressions are often arranged along a straight chain. In the case of osteopoikilosis, almost the entire skeleton is affected in gradations. The finger and wrist bones are most likely to occur. In the fibula and tibia, the compressions are rarely seen. Vertebral bodies, ribs and skull are almost never affected.


The development and cause of osteopoikilosis has not yet been clarified. Initially, an inactivated remodeling of the lamellar bone into cancellous bone was suspected. However, no proof of this thesis has been provided so far. In the meantime, there is speculation about a genetic defect. However, clear evidence for 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 its detection in fetal bones could also be explained by a genetic defect.

Disturbances of the mineral metabolism, on the other hand, could undoubtedly be ruled out as a cause. The same applies to possible increased bone remodeling in these regions. Corresponding indications cannot be found in a skeletal scintigraphy.

Symptoms, Ailments & Signs

Osteopoikilosis progresses without the appearance of symptoms. The around 400 known cases worldwide to date are incidental findings and findings that were made as part of studies on family members of those affected. Since there are no noticeable signs of bone compaction, the exact number of cases is unknown.

By looking through thousands of X-rays from a Viennese accident hospital, researchers have already tried to determine a possible frequency. Still, the language ranges from 0.1 cases per million people to around 12 cases per 100,000. Known cases and studies show that men are more often affected than women. The amount of foci in the bones varies.

But even in spite of the high density of the foci, as is usually found in the pelvic bones, there are no noticeable signs of osteopoikilosis. There are no relevant laboratory chemical changes, nor do minor or severe fractures occur at the same time. Likewise, the densities are irrelevant in the healing of fractures caused by other means.

Diagnosis & course of disease

Osteopoikilosis can only be diagnosed by radiological examinations. Even with a scintigraphy of the skeleton, the densifications remain invisible. They appear to appear in childhood, develop as we grow up and then stagnate. Rarely has it been observed that the densifications dissolve again or their number decreases.


Due to osteopoikilosis, those affected suffer from various malformations of the bones. These malformations can significantly restrict and also make everyday life of the patient more difficult, so that osteopoikilosis is usually associated with a significant reduction in quality of life. The patient’s bones are less dense and can therefore easily break even with light loads or impacts.

For this reason, patients with osteopoikilosis must protect themselves from accidents and dangerous sports. In some cases, it can also cause pain. Fractures heal less well due to osteopoikilosis, so that a long recovery process is usually necessary. However, life expectancy itself is not affected or reduced in any other way due to illness.

Furthermore, child development may also be restricted, so that those affected also suffer from various complaints in adulthood. If a tumor is responsible for osteopoikilosis, it can possibly be removed. Furthermore, the patients often suffer from joint problems and are therefore in some cases dependent on the help of other people in their everyday life. Psychological stress can also occur and have a negative impact on the patient’s quality of life.

When should you go to the doctor?

If hardening occurs in the area of ​​the bones, a doctor should be consulted. Osteopoikilosis manifests itself through various deformities that can occur in the arms, legs, shoulders, sternum and spine. Benign bone malformations are usually noticed in early childhood. Parents who notice such signs in their child should consult the pediatrician . Otherwise, bone changes can increase and form malignant degeneration.

Osteopoikilosis cannot be treated to date, but requires monitoring so that the degeneration mentioned can at least be treated symptomatically. Affected children may also need physical therapy treatment. Since osteopoikilia is a genetic disease, it can be diagnosed immediately after birth. If there is a family history of the disease, the necessary screening should be done. The orthopedist or an oncologist is responsible. The regular check-ups can be carried out in the hospital and often also in the doctor’s office.

Treatment & Therapy

Treatment of osteopoikilosis is not necessary and, according to the current state of knowledge, simply not possible. However, in the event of an incidental finding, it should always be clarified that it is in fact osteopoikilosis and not malignant malignancy or metastases in the bones.

An active form of osteopoikilosis is extremely rare. However, due to the lack of cases, there is a lack of pharmaceutical research and treatment with bisphosphonates is currently being used. Bisphosphonates were developed in the 1980’s to treat bone diseases such as osteoporosis. Administration is parenteral. Slightly more than ten percent of patients with osteopoikilosis complain of joint problems despite the fact that they are actually asymptomatic.

Whether the reason for this actually lies in the compaction or whether there is a connection has not been clarified at the moment. Even the largest study on osteopoikilosis to date has not yet been able to provide comprehensive information on the disease. It was carried out in Turkey in the early 1990s and assumed four patients with an incidental finding.

The study also gave no indication as to why the skin-changing Buschke-Ollendorf syndrome (dermatofibrosis lenticularis disseminata) and dacryocystitis (Gunal-Seber-Basaran syndrome) occur as concomitant diseases. The former can be observed in about ten percent of those affected.

A relationship to melorheostosis, on the other hand, is still being discussed. Melorheostosis is abnormal thickening of the bones. Like osteopoikilosis, it is also extremely rare, does not cause any symptoms worth mentioning and is usually only discovered by chance on radiological images.

Outlook & Forecast

The disease cannot be cured according to the current medical and scientific possibilities. One challenge so far has been to clarify the cause of the health development. Researchers have so far assumed a genetic disposition due to the familial frequency of the occurrence of changes in bone structure. If this assumption is confirmed, healing is currently not permitted due to legal requirements. Human genetics must not be altered, so potential treatment focuses on alleviating existing irregularities and health conditions. In addition, it is checked whether subsequent disorders or other impairments develop in everyday life.

In most cases, osteopoikilosis is diagnosed as an incidental finding. Those affected are usually in treatment for other health problems. At the same time the osteopoikilosis is noted. Since the disease is usually characterized in patients without the occurrence of other symptoms, they do not require further treatment for changes in bone structure. For the purpose of observation, regular checks of the state of health are advisable over the lifespan. As soon as changes or abnormalities are noticed, the medical staff reacts accordingly. Further tests will be carried out to clarify the cause of the anomalies.


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 symptom-free course make prevention seem pointless anyway.

Other usual bone formation measures, such as the intake of large amounts of calcium, are also ineffective. In any case, the outer layers of bone and bone marrow are not changed in osteopoikilosis.


In most cases, direct aftercare measures for osteopoikilosis prove to be relatively difficult. Those affected must consult a doctor very early on, so that other complications or other symptoms do not occur later on. Since the disease is a congenital malformation, it cannot be completely cured.

If you want to have children, you should have a genetic test and counseling done to prevent osteopoikilosis from reoccurring. In most cases, the treatment itself involves various surgical interventions through which the tumors can be removed. After such an operation, those affected should rest and protect their bodies.

Exertion and stressful or physical activities should be avoided. Regular check-ups and examinations by a doctor are also very important after the procedure 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.

You can do that yourself

Osteopoikilosis sufferers should compensate for incorrect body posture in good time. Loads and impacts of any kind are to be avoided. They can lead to broken bones and thus further worsen general well-being. The practice of sporting activities must be designed with consideration for the disease. Participation in martial arts or team sports in particular should be avoided.

Leisure activities, household chores and professional activities should also be organized based on the physical possibilities. Appropriate footwear must be worn for all work to be performed. The shoes should be closed and stable and not have high heels.

The disease represents a strong psychological burden for those affected. For this reason, psychotherapeutic support is advisable. In addition, activities that represent an increase in joie de vivre and quality of life are important. Stressors can be reduced independently by using mental and relaxation techniques. Conflict situations are to be identified and resolved 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 affected people can be sought and established at any time. In joint discussions, experiences are exchanged and assistance is given. Mutual understanding often has a beneficial effect on dealing with the illness and brings new impetus to coping with the circumstances.