Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings.

Abstract

Since 1988, three nonrelated fatal cases of congenital ichthyosis associated with Gaucher disease have been described in Australia. We present a case of Gaucher disease with congenital ichthyosis and restrictive dermopathy and describe the associated prenatal sonographic findings and pathology of this new syndrome. The unusual association of congenital ichthyosis with lipid storage disease may be suspected prenatally. A high index of suspicion may prove this condition to be more common than previously thought.