Albers-Schönberg Disease

Albers-Schönberg disease (marbling of the bones, osteosclerosis, osteopetrosis) is a rare hereditary disease with a malfunction of osteoclasts (disorder of bone resorption). Disturbed balance of activity of osteoblasts and osteoclasts → bone becomes extremely compact (bone sclerosis). New bone formation normal → brittle and brittle bone, strengthening of metaphyses and diaphysis. The primary medullary cavity is filled with homogeneous irregular bone substance → extramedullary hematopoiesis.
 * 3 forms:
 * Classic congenital form (m. Albers-Schönberg) – malignant osteopetrosis (AR hereditary).
 * Osteopetrosis tarda – benign (AD hereditary).
 * Osteopetrosis due to renal tubular acidosis (Hereditary AR).

Clinical picture

 * different course and prognosis – mild forms to severe or fatal forms (e.g. early infantile form ending fatally before the age of 10),
 * disorders of hematopoiesis → anemia, immunodeficiency,
 * macrocephaly, tooth defects, osteosclerosis, exophthalmos (by compression of nerves in bone canals),
 * pathological fractures.

X-ray image

 * the basic image is an increased density of bone tissue (corticalis and spongiosis cannot be distinguished, filling of the marrow cavity of the bones),
 * striated osteosclerotic zones of vertebral bodies and covering plates,
 * thickening of the cortex of the long bones and the peripheral parts of the pelvis,
 * radial thickening of the bony beam in the arm and leg skeleton,
 * periosteal apposition to spicules, often in traction zones of the skeleton (club-shaped metaphysis).

Laboratory finding

 * increased acid phosphatase (possibly also alkaline phosphatase) in the serum,
 * calcium and phosphate levels normal,
 * in the renal form, manifestations of acidosis.

Prenatal diagnosis

 * sonographically increased bone density,
 * radiological certificate from the 25th week of pregnancy.

Therapy

 * causal is not,
 * non-orthopedic treatment – ​​treatment of anemia or pancytopenia (bone marrow transplantation, corticoids, IFN-α),
 * orthopedic treatment – ​​pathological fractures (mostly transverse), bone healing is prolonged, a longer period of immobilization of fractures is necessary.

Differential diagnosis

 * other sclerosing bone diseases (pycnodysostosis, progressive diaphyseal dysplasia, metaphyseal dysplasia, metal poisoning, syphilis, myelofibrosis) – they do not have severe anemia.

Related articles

 * Neurofibromatosis (m. von Recklinghausen)
 * Osteogenesis imperfecta (osteopsatyrhosis, fragilitas ossium)
 * Osteopoikilosis (osteopoicilia)

Reference

 * 1) SOSNA, A., P. VAVŘÍK a M. KRBEC, et al. Základy ortopedie. 1. vydání. Praha : Triton, 2001.  ISBN 80-7254-202-8.
 * 2) ↑ Skočit nahoru k:a b c d e f g h DUNGL, P., et al. Ortopedie. 1. vydání. Praha : Grada Publishing, 2005.  ISBN 80-247-0550-8.