Radial dysplasia with localized cutis aplasia congenita.

Abstract

We describe four cases of distal radial epiphyseal dysplasia associated with a localized area of cutis aplasia congenita over the dorsum of the distal forearm. The cutis aplasia was diagnosed at birth in all cases, but the radial dysplasia was not recognized until presentation to our orthopaedic department between the ages of 5 and 10 years. This association, the long-term implications and the requirement for follow-up until skeletal maturity have not previously been described. We emphasize the importance of continued monitoring of these patients as the effects of radial dysplasia did not become obvious for several years, and the potential benefit from achieving early skin cover with grafting rather than allowing healing by secondary intention is discussed. It is important to increase awareness of this condition so that early orthopaedic and plastic surgical opinions can be sought, in order to reduce the disabling effect on the underlying radius. In this way it may be possible to elucidate the cause and manage the condition satisfactorily at an earlier stage.