Journal Mobile Options
Table of Contents
Vol. 202, No. 2, 2001
Issue release date: 2001
Dermatology 2001;202:99–107

Clinico-Immunological Heterogeneity in Comèl-Netherton Syndrome

van Gysel D. · Koning H. · Baert M.R.M. · Savelkoul H.F.J. · Neijens H.J. · Oranje A.P.
aDepartment of Paediatrics, O.L. Vrouw Hospital, Aalst, Belgium; bDepartment of Paediatrics, University Hospital (Sophia) Rotterdam, cDepartment of Immunology, Erasmus University Rotterdam, and dDepartment of Dermatology and Venereology, University Hospital Rotterdam, and Erasmus University Rotterdam, The Netherlands

Individual Users: Register with Karger Login Information

Please create your User ID & Password

Contact Information

I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in


Background: Comèl-Netherton syndrome (CN) is characterized by atopic-eczema-like skin abnormalities combined with linear ichthyotic lesions, hair shaft abnormalities and atopy with high IgE levels. Objective: Five children with CN are described. In 2 of the 3 CN patients still alive, analysis of cytokines regulating IgE synthesis was performed. Methods: In peripheral blood mononuclear cells and cultures of purified T cells, mRNA expression and protein production of interleukin 4 (IL-4), IL-13, IL-5 and interferon γ were analysed. The results were compared with the values in age-matched atopic dermatitis patients and healthy children. Results: The 5 CN patients showed striking differences in disease severity and evolution. Marked differences were found in several cytokines in the 2 analysed CN patients. Low percentages of natural killer cells were observed in both CN patients. Conclusion: The regulation of IgE production in patients with CN is varied and complex. The CN patients were heterogeneous in terms of Th2 skewing.

Copyright / Drug Dosage

Copyright: 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 or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
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 goverment 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.


  1. Comèl M: Ichthyosis linearis circumflexa. Dermatologica 1949;98:122–136.
  2. Netherton EW: A unique case of trichorrhexis nodosa – ‘Bamboo hairs’. Arch Dermatol 1958;78:483–487.
  3. Traupe H: The ichthyoses: A guide to clinical diagnosis, genetic counseling and therapy. Berlin, Springer, 1989.
  4. Okkerse A, Oranje AP, de Laat PCJ: Comél-Netherton syndrome. Br J Dermatol 1994;131:725–726.
  5. Hausser I, Anton-Lamprecht I: Severe congenital generalized exfoliative erythroderma in newborns and infants: A possible sign of Netherton syndrome. Pediatr Dermatol 1996;13:183–199.
  6. Abeck D, Bleck O, Schmidt T, Ring J: Stratum corneum lipid profile in Netherton’s syndrome resembles atopic eczema. Ann Dermatol Venereol 1998;1(suppl):63.
  7. Gascan H, Gauchat J-F, de Waal Malefyt R, Schneider P, Yssel H, de Vries JE: Regulation of human IgE synthesis. Clin Exp Allergy 1991;21:162–166.

    External Resources

  8. Clutterbuck EJ, Hirst EM, Sanderson CJ: Human interleukin-5 (IL-5) regulates the production of eosinophils in human bone marrow cultures: Comparison and interaction with IL-1, IL-3, IL-6 and GM-CSF. Blood 1989;73:1504–1512.
  9. Smith DL, Smith JG, Wong SW, de Shazo RD: Netherton’s syndrome: A syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immunol 1995;95:116–123.

    External Resources

  10. European Task Force on Atopic Dermatitis: Severity scoring of atopic dermatitis: The SCORAD Index. Dermatology 1993;186:23–31.
  11. Oranje AP, Van Gysel D, Mulder PGH, Dieges PH: Food-induced contact urticaria syndrome (CUS) in atopic dermatitis: Reproducibility of repeated and duplicate testing with a skin provocation test, the skin application food test (SAFT). Contact Dermatitis 1994;31:314–318.
  12. Hanifin JM, Rajka G: Diagnostic features of atopic dermatitis. Acta Derm Venereol (Stockh) 1980;92(suppl):44–47.
  13. Koning H, Baert MRM, de Groot R, Neijens H, Savelkoul HF: Analysis of cytokine gene expression in stimulated T cells of small children by semi-quantitative PCR. Mediat Inflamm 1995;4:196–204.
  14. Yssel H, de Vries JE, Koken M, Van Blitterswijk W, Spits H: Serum-free medium for generation and propagation of functional human cytotoxic and helper T cell clones. J Immunol Methods 1984;72:219–227.
  15. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1986;162:156–159.
  16. Koning H, Neijens HJ, Baert MR, Oranje AP, Savelkoul HF: T cell subsets and cytokines in allergic and non-allergic children. Cytokine 1997;9:416–436.
  17. Wierenga EA, Snoek MA, de Groot C, Chretien I, Bos JD, Jansen HM, Kapsenberg ML: Evidence for compartmentalization of functional subsets of CD4+ T lymphocytes in atopic patients. J Immunol 1990;144:4651–4656.
  18. Parronchi P, Macchia D, Piccinni M-P, Biswas P, Simonelli C, Maggi E, Ricci M, Ansari AA, Romagnani S: Allergen- and bacterial antigen-specific T-cell clones established from atopic donors show a different profile of cytokine production. Proc Natl Acad Sci USA 1991;88:4538–4542.
  19. Trinchieri G, Matsumoto-Kobayashi M, Clark SC, Seehra J, London L, Perussia B: Response of resting human peripheral blood natural killer cells to interleukin 2. J Exp Med 1984;160:1147–1169.
  20. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafe JL, Wilkinson J, Taïeb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A: Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000;25:141–142.

Pay-per-View Options
Direct payment This item at the regular price: USD 38.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 26.50