Osteosclerosis With Ichthyosis And Fractures

Koller et al. (1979) described an apparently 'new' dominant disorder characterized by cortical thickening of the diaphyses of long bones and bowing of femurs and tibias in a family from northern Norway. Six persons in 2 generations were affected. All 6 had ichthyosis and 3 also had an unusual proclivity to fractures. The patients had pain and weakness in the legs and a waddling gait, as in Engelmann disease (131300). No male-to-male transmission was observed and no affected male had children; hence, autosomal and X-linked inheritance could not be distinguished. Females and males were probably affected with equal severity.