Osteopoicilosis

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Classification according to ICD-10
Q78.8 Other specified osteochondrodysplasias

Osteopoicilia

ICD-10 online (WHO version 2019)
Osteopoicilosis on the x-ray of the hands.
Osteopoicilosis of the hip on computed tomography.

The osteopoikilosis (osteopathia condensing sans disseminated, osteopoikilosis) is a rare, benign, usually accidentally discovered bone malformation . In the pelvis and in the meta- and epiphyses as well as in the carpal and tarsal bones there are cluster-like, irregular, round to oval compression zones of the cancellous bone from a few millimeters to centimeters. The changes are found less often in the diaphysis . Often the distribution pattern is symmetrical. The skull and spine are rarely affected. The herd pass into the environment without a clear boundary. The compacta is not affected.

Histologically, the bone changes are based on lamellar bones, which correspond to those of the compacta. It is believed that these are old remodeling that were inactivated before the lamellar bone was transformed into cancellous bone. The densities cannot be distinguished histologically from solitary compact islands . Mineral metabolism disorders are not associated with the clinical picture. The foci are usually not visible in the skeletal scintigraphy , which indicates that there is no increased bone remodeling.

According to the first description by the radiologist and surgeon Heinrich Albers-Schönberg in 1915, only max. 400 cases published. An American study estimates the incidence at 0.1 cases per million. A reliable statement about the frequency is not possible, however, because the osteopoicilosis is usually symptom-free . According to this study, men are affected slightly more often than women. A familial cluster was observed in several cases, with an autosomal dominant inheritance pattern appearing to be present, while other cases occur sporadically.

In one of the largest studies on osteopoikilosis, a Turkish study from 1992, based on four patients in whom osteopoikilosis was found by chance, an examination of family members finally found 49 further cases (a total of 33 men and 20 women, ratio 1.65: 1). Based on the pedigrees, an autosomal dominant inheritance was shown in these families from Eastern Anatolia and the Black Sea region. In 51 of 53 patients the osteopoicilosis was bilateral. The metaphyses and the adjacent bone regions were mainly affected, with no difference between distal and proximal metaphyses. The foci of sclerosis were found in decreasing frequency in the finger bones (phalanges, 100%), carpal bones (carpalia, 97.4%), metacarpal bones (metacarpals, 92.3%), toe bones (phalanges, 87.2%), metatarsals , 84.4%), tarsal bones (tarsalia, 84.6%), followed by pelvis (74.4%), thigh bone (femur, 74.4%), radius (radius, 66.7%), ulna (ulna , 66.7%), sacrum (sacrum, 58.9%), humerus (humerus, 28.2%), tibia (tibia 20.5%) and fibula (fibula, 12.8%).

This study found between one and a thousand foci of sclerosis per bone, the number increasing with age, as did the density (sclerosis). The highest number of foci of sclerosis was found in the pelvic bones. The lesions measured between 1 × 1 mm and 12 × 16 mm. They were described as linear, elliptical or round, and were often arranged along imaginary longitudinal lines in the bone.

An etiological relationship to osteopathia striata and melorheostosis is discussed, since the clinical pictures can also occur together in a person. In addition to the osteodysplasias mentioned , other concomitant diseases of osteopoikilosis have been described, including Buschke-Ollendorff syndrome (dermatofibrosis lenticularis disseminata), which is found in around 10% of patients with osteopoikilosis and, in addition to the bone changes, has multiple small whitish-yellowish cutaneous and subcutaneous nodules . In addition, the are Dakryozystitis ( Günal-Seber-Basaran syndrome ) and multiple cartilaginous exostosis observed in osteopoikilosis.

The bone changes can already be observed in small children. Over time, they can increase, decrease or even disappear completely. Pathological fractures do not occur, osteopoikilosis is asymptomatic. Treatment is therefore not necessary and also not possible. Malignant degeneration has been described extremely rarely.

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Individual evidence

  1. ↑ a b J. A. Herring: Tachdijan's Pediatric Orthopedics. (3rd edition, in three volumes) WB Saunders Company, Philadelphia (USA) 2002
  2. ↑ H. Albers-Schönberg: A rare, previously unknown structural anomaly of the skeleton. Advances in the field of X-rays and nuclear medicine 1915/1916; 23: 174-5.
  3. ↑ a b I. T. Benli, S. Akalin, E. Boysan et al .: Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg 1992; 74-Br: 504
  4. ^ S. Ghai, R. Sharma, S. Ghai: Mixed sclerosing bone dysplasia - a case report with literature review. Clin Imaging. 2003 May-Jun; 27 (3): 203-5.
  5. ↑ R. Happle: Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis. Am J Med Genet A. 2004 Mar 15; 125A (3): 221-3.
  6. ^ A. Buschke, H. Ollendorf: A case of Dermatofibrosis lenticularis disseminata and Osteopathia condensans disseminata. Dermatologische Wochenschrift 1928; 86: 257-62
  7. ↑ I. Gunal, S. Seber, N. Basaran, S. Artan, K. Gunal, E. Gokturk: Dacryocystitis associated with osteopoikilosis. Clin. Genet. 44: 211-213, 1993. PubMed ID: 8261652

Web links

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