title: Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.
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.
authors.affiliation: Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, USA.
authors.forename: A
authors.initials: A
authors.lastname: Fujimoto
authors.forename: N
authors.initials: N
authors.lastname: Tayebi
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D000649:Amniocentesis; D002518:Ceramides / Q000378:metabolism; D003937:Diagnosis, Differential; D004817:Epidermis / Q000378:metabolism / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005776:Gaucher Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D005962:Glucosylceramidase / Q000032:analysis / Q000172:deficiency*; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics*; D016114:Ichthyosis, X-Linked / Q000175:diagnosis; D007231:Infant, Newborn; D008297:Male; D011379:Prognosis
chemical_list: D002518:Ceramides; D005962:Glucosylceramidase