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A Novel Somatic Mutation of the 3 -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 -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.
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