Vanishing bone syndrome

An inherited form of osteolysis -- the destruction of bone.

There are several such syndromes.

In one form of vanishing bone syndrome, there is osteolysis in the hands and feet, crippling arthritic changes in the hands, marked osteoporosis, and nodules beneath the skin of the palms and soles associated with autosomal recessive inheritance.

The responsible gene is called the MMP2 gene.

Affected family members have no MMP2 enzymatic activity.

The loss of MMP2 messes with the matrix of the bone and causes vanishing bone syndrome