Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease

American Journal of Medical Genetics
A FujimotoEllen Sidransky

Abstract

We describe 2 sibs who presented with ichthyotic skin at birth and subsequently developed neurologic manifestations of type 2 Gaucher disease. Type 2 Gaucher patients with and without ichthyosis manifest ultrastructural and biochemical abnormalities in the epidermis. The 2 patients described here clearly demonstrate that epidermal involvement in type 2 Gaucher disease may precede neurologic symptoms and substantiate the prognostic significance of early skin abnormalities in Gaucher patients. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis, even if the scaling resolves spontaneously.

References

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Citations

Dec 29, 1998·Journal of Dermatological Science·A Ishida-YamamotoH Iizuka
Feb 24, 2000·Archives of Disease in Childhood. Fetal and Neonatal Edition·D L StoneE Sidransky
Apr 2, 2009·Pediatrics·Orna Staretz-ChachamEllen Sidransky
Oct 16, 2010·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·April GoeblFrancis Y M Choy
Apr 16, 1998·Proceedings of the National Academy of Sciences of the United States of America·Y LiuR L Proia
Oct 1, 2010·Blood Cells, Molecules & Diseases·N GuptaE Sidransky
Feb 3, 2009·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·H Ben TurkiaM F Ben Dridi
Dec 12, 2007·Clinical Genetics·A ZayC R Tan-Dy
Mar 14, 1998·Baillière's Clinical Haematology·E Sidransky, E I Ginns
Feb 18, 2006·Brain & Development·Cyril MignotUNKNOWN French Type 2 Gaucher Disease Study Group
Oct 21, 1999·Molecular Genetics and Metabolism·N TayebiE Sidransky
Jul 3, 2003·American Journal of Medical Genetics. Part a·C MignotT Billette de Villemeur
Jan 29, 2000·Human Mutation·D L StoneE Sidransky

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