Albers-Schönberg Disease

Osteoporosis of pelvis (X-Ray)

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.

Links

Related articles

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

References

• SOSNA, A. – VAVŘÍK, P. – KRBEC, M.. Základy ortopedie. 1. edition. Triton, 2001. ISBN 80-7254-202-8.

• DUNGL, P.. Ortopedie. 1. edition. Grada Publishing, 2005. ISBN 80-247-0550-8.

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.