BACKGROUND: Since 1988, three nonrelated fatal cases of congenital ichthyosis associated with Gaucher disease have been described in Australia. CASE: 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. CONCLUSION: 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.
BACKGROUND: Since 1988, three nonrelated fatal cases of congenital ichthyosis associated with Gaucher disease have been described in Australia. CASE: 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. CONCLUSION: 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.
Authors: W M Holleran; E I Ginns; G K Menon; J U Grundmann; M Fartasch; C E McKinney; P M Elias; E Sidransky Journal: J Clin Invest Date: 1994-04 Impact factor: 14.808
Authors: Helena Hůlková; Helena Poupetová; Klaus Harzer; Pramod Mistry; Johannes M F G Aerts; Milan Elleder Journal: J Inherit Metab Dis Date: 2010-01-05 Impact factor: 4.982