You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better.


ABOUT ARCHIVES
Advanced Search

Welcome   | My Account | E-mail Alerts | Access Rights | Sign In


  Vol. 141 No. 10, October 2005 TABLE OF CONTENTS
  Archives
  •  Online Features
  Study
 This Article
 •Full text
 •PDF
 •Send to a friend
 • Save in My Folder
 •Save to citation manager
 •Permissions
 Citing Articles
 •Citing articles on ISI (2)
 •Contact me when this article is cited
 Related Content
 •Similar articles in this journal
 Topic Collections
 •Dermatologic Disorders, Other
 •Alert me on articles by topic

A Novel Somatic Mutation of the 3{beta}-Hydroxysteroid Dehydrogenase Gene in Sporadic Cutaneous Verruciform Xanthoma

Shveta Mehra, MD; Liwen Li, BA; Chun-Yang Fan, MD, PhD; Bruce Smoller, MD; Michael Morgan, MD; Stephen Somach, MD

Arch Dermatol. 2005;141:1263-1267.

Objective  To analyze the 3{beta}-hydroxysteroid dehydrogenase (NSDHL) gene in verruciform xanthoma (VX) to elucidate its potential role in the histogenesis of this lesion.

Design  DNA was extracted from paraffin-embedded tissue, followed by polymerase chain reaction amplification of exons 4 and 6 of the NSDHL gene. The polymerase chain reaction products were then directly sequenced and analyzed for the presence of somatic mutations.

Patients  Nine lesions of VX from 8 patients and 3 unrelated normal controls were evaluated.

Results  Two of 9 VXs (22%) demonstrated a novel somatic missense mutation in exon 6 of the NSDHL gene. The mutation was not present in the remaining 7 lesions of VX, nonlesional internal controls, and 3 unrelated normal controls. No mutation of exon 4 was found in any case. Mutations of exons 4 and 6 previously identified in CHILD syndrome were not seen in our cases.

Conclusions  (1) A novel missense mutation (R199H) in exon 6 of the NSDHL gene was identified in a small subset of sporadic VXs. (2) Known CHILD syndrome mutations in exons 4 and 6 of the NSDHL gene do not contribute to the histogenesis of sporadic VXs.


Author Affiliations: Departments of Pathology and Dermatology, MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio (Drs Mehra and Somach); Department of Pathology, College of Medicine, University of Arkansas for Medical Sciences, Little Rock (Ms Li and Drs Fan and Smoller); and Department of Pathology, University of South Florida School of Medicine, Tampa (Dr Morgan). Dr Mehra is now with the Department of Pathology, Upstate Medical University, Syracuse, NY.







HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | CME | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 2005 American Medical Association. All Rights Reserved.