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Albers-Schönberg osteopetrosis, a rare heritable bone disease with autosomal dominant or recessive transmission, is generally characterised by diffuse sclerosis of the whole skeleton accompanied by pathological bone fragility and delayed physical development, profound intractable myelophthisic anaemia, neurological deficits, and osteomyelitis, especially of the jaws and the skull. The precise aetiology of the osteopetrosis is not clear. Therefore therapy is restricted to alleviation of symptoms. In this study the case of a patient suffering from the benign form of osteopetrosis is presented. Osteomyelitis of the skull was treated successfully 2 years after the removal of lower and upper jaw teeth by a combined multistage surgical and antibiotic approach.

Two own observations of pycnodysostosis initiated our description of this disease. Inherited as an autosomal recessive trait the syndrome is characterized by a medium degree generalized osteosclerosis, open craniial sutures and fontanels until adult lige, hypoplastic mandibles with deficiency of the angle, prominence of the forehead and occiput, hypoplasia of the paranasal sinuses, commonly observed dysproportionate dwarfism, acro-osteolysis and increased bone fragility. Contrary to osteopetrosis the prognosis is good.

Investigations of a patient with the benign adult form of osteopetrosis (Albers-Schönberg) revealed that the clinical symptoms correlated with a high bone metabolism, high calcium incorporation in bone, increased osteoclast activity and probably reactive increase of calcitonin in the blood.

The two different forms of Osteopetrosis Albers-Schönberg are demonstrated by the respective reports on two typical cases. The autosomal dominant form has a late manifestation and is often discovered only by chance. The autosomal recessive form manifests itself in early infancy and often results in death during the first decade of life. There is no known therapy. Pathogenesis and pathophysiology cannot be explained with certainty; an insufficiency of osteoclasts as well as a disturbed ossification process have been postulated. With regard to the prognosis it is essential to realize other forms of osteopetrosis. The genetic aspects are pointed out, in particular their implication in advising families who wish to have further children.