Osteopoikilosis

The Osteopoikilosis ( Osteopathia conde sans disseminata, osteopoikilosis ) is a rare, benign, usually accidentally discovered bone malformation. It can be found in the pelvis and in the meta - and epiphysis of long bones and in the carpal-tarsal cluster like many, irregular, round to oval compression zones of cancellous bone from a few millimeters to centimeters. The changes are found less frequently in the diaphysis. Often, the distribution pattern is symmetrical. Skull and spine are rarely affected. The herd go without clear boundary on the environment. The compact bone is not affected.

Histologically underlies the bone changes of lamellar bone, which corresponds to that of cortical bone. It is believed that this is old Remodellierungen that have been inactivated before conversion of lamellar bone in cancellous bone. Histologically, the densities are indistinguishable from solitary Kompaktainseln. Disorders of mineral metabolism are not associated with the disease. The lesions are usually not seen in bone scintigraphy, indicating that there is no increased bone remodeling takes place.

After the first description by the radiologist and surgeon Heinrich Albers- Schonberg 1915 to 2005 estimated only max. 400 cases published. An American study estimates the incidence to 0.1 cases per million. However, a definitive statement about the frequency is not possible because the Osteopoikilosis usually progresses without symptoms. According to this study, men are affected slightly more often than women. In several cases, a familial aggregation was observed, with an autosomal dominant mode of inheritance appears to be present, while in other cases occur sporadically.

In one of the largest studies on Osteopoikilosis, a Turkish study of 1992, finally found themselves on the basis of four patients in whom the Osteopoikilosis was accidentally found, upon examination of family members 49 more cases ( 33 males and 20 females, ratio 1.65: 1). Based on the pedigrees an autosomal dominant inheritance has been demonstrated in these families from Eastern Anatolia and the Black Sea area. In 51 of 53 patients Osteopoikilosis was mutual. Mainly affected the metaphyses, and the adjacent bone regions, with no difference between distal and proximal metaphyses. The sclerosis foci were found in descending order of frequency in the finger bones ( phalanges, 100%), carpal bones ( carpal bones, 97.4 %), metacarpal bones ( metacarpals, 92.3 %), toe bones ( phalanges, 87.2 %), metatarsals ( metatarsals, 84.4 %), tarsal bones ( tarsals, 84.6 % ), followed by pelvis ( 74.4 %), thigh bone (femur, 74.4 %), radius ( radius, 66.7 %), Elle ( ulna, 66.7 %), sacrum ( sacrum, 58.9 %), upper arm bone (humerus, 28.2%), shinbone ( tibia 20.5%) and fibula ( fibula, 12.8%).

In this study, found themselves between a thousand and sclerosis foci per bone, and the number increased with age, as does the density ( sclerosis ). In the pelvic bone was found the highest number of herds sclerosis. The lesions measured between 1x1 mm and 12x16 mm. They were described as linear, elliptical or round, and were often arranged along an imaginary longitudinal lines in the bone.

An etiologic relationship to Osteopathia striata and Melorheostosis is discussed, because the disease can occur with a man also common. In addition to these Osteodysplasien more comorbidities of Osteopoikilosis are described, including the Dermatofibrosis lenticularis disseminata ( Buschke - Olle village syndrome), which can be found approximately 10 % of patients with Osteopoikilosis and has in addition to the bone changes multiple small whitish- yellowish cutaneous and subcutaneous nodules. In addition, the dacryocystitis ( Gunal - Seber - Basaran syndrome) and multiple cartilaginous exostoses are observed at Osteopoikilosis.

The bone changes can already be observed in infancy. You can increase over time, become smaller or even disappear altogether. Pathologic fractures do not occur, the Osteopoikilosis is asymptomatic. A treatment is therefore not necessary and is not possible. Extremely rare malignant transformation has been described.

Swell

G. Haberhauer, M. Skoumal: Osteopoikilosis. Journal of Mineral Metabolism 2005
K. Bohndorf, H.Imhof: Diagnostic Radiology of Bones and Joints Thieme Stuttgart, New York 1998 ISBN 3-13-110982-3
Heuck: Radiology of bone and joint diseases. Thieme Verlag, 1997, ISBN 3-13-107071-4

Autosome

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