Novel Insights from Clinical Practice
Congenital Ichthyosis in Severe Type II Gaucher Disease with a Homozygous Null MutationHaverkaemper S.a · Marquardt T.c · Hausser I.d · Timme K.a · Kuehn T.a · Hertzberg C.b · Rossi R.a
Departments of aPediatrics and bPediatric Neurology and Social Care, Klinikum Neukoelln, Berlin, cDepartment of Pediatrics, University Hospital, Muenster, and dDepartment of Dermatology, Electron Microscopy Laboratory, University Hospital, Heidelberg, Germany
Do you have an account?
- Rent for 48h to view
- Buy Cloud Access for unlimited viewing via different devices
- Synchronizing in the ReadCube Cloud
- Printing and saving restrictions apply
Rental: USD 8.50
Cloud: USD 20.00
Article / Publication Details
This paper describes a neonate with type II Gaucher disease. The phenotype was unusually severe with congenital ichthyosis, hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure. Electron microscopy of the skin revealed lamellar body contents in the stratum corneum interstices, appearances considered to be typical of type II Gaucher disease. The baby died from respiratory failure 1 month postpartum having made no neurological progress. Molecular analysis identified a previously not reported homozygous null mutation, c.1505G→A of the β-glucocerebrosidase gene.
© 2011 S. Karger AG, Basel
- Staretz-Chacham O, Lang TC, La Marca ME, Krasnewich D, Sidransky E: Lysosomal storage disorders in the newborn. Pediatrics 2009;123:1191–1207.
- Lui K, Commens C, Choong R, Jaworski R: Collodion babies with Gaucher’s disease. Arch Dis Child 1988;63:854–856.
- Hamanaka S, Hara M, Nishio H, Otsuka F, Suzuki A, Uchida Y: Human epidermal glycosylceramides are major precursors of stratum corneum ceramides. J Invest Dermatol 2002;119:416–423.
- Takagi Y, Kriehuber E, Imokawa G, Elias PM, Holleran WM: Beta-glucocerebrosidase activity in mammalian stratum corneum. J Lipid Res 1999;40:861–869.
- Holleran WM, Takagi Y, Menon GK, Legler G, Feingold KR, Elias PM: Consequences of β-glucocerebrosidase deficiency in epidermis: ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 1994;93:1756–1764.
- Sidransky E, Fartasch M, Lee RE, Metlay LA, Abella S, Zimran A, et al: Epidermal abnormalities may distinguish type 2 from type 1 and 3 of Gaucher disease. Pediatr Res 1996;39:134–141.
- Stone DL, Carey WF, Christodoulou J, Sillence D, Nelson P, Callahan M, et al: Type 2 Gaucher disease: the collodion baby revisited. Arch Dis Child Fetal Neonatal Ed 2000;82:F163–F166.
- Sidransky E: Gaucher disease: complexity in a ‘simple’ disorder. Mol Genet Metabol 2004;83:6–15.
- Ohshima T, Sasaki M, Matsuzaka T, Sakuragawa N: A novel splicing abnormality in a Japanese patient with Gaucher’s disease. Hum Mol Genet 1993;2:1497–1498.
- Beutler E, Gelbart T, Demina A, Zimran A, LeCoutre P: Five new Gaucher disease mutations. Blood Cells Mol Dis 1995;21:20–24.
- Tybulewicz V, Tremblay ML, La Marca ME, Willemsen R, Stubblefield BK, Winfield S, et al: Animal model of Gaucher’s disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 1992;357:407–410.
Article / Publication Details
Copyright / Drug Dosage / DisclaimerCopyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.