Journal Mobile Options
Table of Contents
Vol. 211, No. 2, 2005
Issue release date: 2005
Dermatology 2005;211:155–158

CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene

Kim C.A. · König A. · Bertola D.R. · Albano L.M.J. · Gattás G.J.F. · Bornholdt D. · Leveleki L. · Happle R. · Grzeschik K.-H.
aClinical Unit, Instituto da Criança, USP São Paulo, São Paulo, Brazil; Departments of bDermatology and cHuman Genetics, Philipp University, Marburg, Germany

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


The X-linked dominant CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is a rare developmental defect characterized by a strictly lateralized inflammatory nevus. In the majority of cases, the right side of the body is affected. Ipsilateral hypoplastic lesions may involve the brain, skeletal structures, lungs, heart or kidneys. We describe a case of CHILD syndrome involving the left side of the body. Absence of metacarpal, metatarsal and phalangeal bones of the left hand and foot resulted in oligodactyly, with only 3 fingers and 1 toe. An ipsilateral inflammatory epidermal nevus with hyperkeratosis, parakeratosis, acanthosis and perivascular lymphohistiocytic infiltrate was strictly confined to the left half of the patient’s body. The phenotype was shown to be associated with a deletion of exons 6–8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis.

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. Happle R, Koch H, Lenz W: The CHILD syndrome: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980;134:27–33.
  2. König A, Happle R, Bornholdt D, Engel H, Grzeschik KH: Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000;90:339–346.
  3. König A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH: A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J Am Acad Dermatol 2002;46:594–596.
  4. Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE: Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. Am J Med Genet 2003;122A:246–251.

    External Resources

  5. Murata K, Shinkai H, Ishikiriyama S, Yamazaki M, Fukuzumi Y, Hatamochi A: A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome. J Dermatol Sci 2003;33:67–69.
  6. Kaminska G, Brzezinska-Wcislo L, Jezela-Stanek A, Krajewska-Walasek M, Kelley R: CHILD syndrome – Clinical picture, diagnostic procedures and treatment. J Eur Acad Dermatol Venerol 2003;17:276.
  7. Liu XY, Dangel AW, Kelley RI, Zhao W, Denny P, Botcherby M, Cattanach B, Peters J, Hunsicker PR, Mallon AM, Strivens MA, Bate R, Miller W, Rhodes M, Brown SD, Herman GE: The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat Genet 1999;22:182–187.
  8. Ohashi M, Mizushima N, Kabeya Y, Yoshimori T: Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets. J Biol Chem 2003;278:36819–36829.
  9. Caldas H, Herman GE: NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. Hum Mol Genet 2003;12:2981–2991.
  10. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D: Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nat Genet 1999;22:291–294.
  11. Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE: Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 1999;22:286–290.
  12. Armour JA, Sismani C, Patsalis PC, Cross G: Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 2000;28:605–609.
  13. Happle R, König A, Grzeschik KH: Behold the CHILD, it’s only one: CHILD syndrome is not caused by deficiency of 3beta-hydroxysteroid-delta 8,delta 7-isomerase. Am J Med Genet 2000;94:341–343.
  14. Herman GE: Disorders of cholesterol biosynthesis: Prototypic metabolic malformation syndromes. Hum Mol Genet 2003;12:R75–R88.

    External Resources

  15. Happle R: X-linked dominant chondrodysplasia punctata: Review of the literature and report of a case. Hum Genet 1979;53:65–73.
  16. Happle R, Mittag H, Küster W: The CHILD nevus: A distinct skin disorder. Dermatology 1995;191:210–216.
  17. Grzeschik KH: Human limb malformations: An approach to the molecular basis of development. Int J Dev Biol 2002;46:983–991.

Pay-per-View Options
Direct payment This item at the regular price: USD 33.00
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 23.00