An entire family was referred to our department to be tested for Camurati-Engelmann disease (progressive diaphyseal dysplasia) because their father had the disorder. Three out of five of his children showed signs of the disorder, with a typical pattern on bone scintigraphy.
Camurati-Engelmann disease is an autosomal dominant hereditary bone disease characterized by progressive bone formation along the periosteal and endosteal surfaces of the long tubular bones. However, it may involve the planar bones, and in severe cases, the skull may be affected. The clinical manifestations range from no symptoms at all to pain, muscle deterioration, and weakness.