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October 2005

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

Author Affiliations

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.

Arch Dermatol. 2005;141(10):1263-1267. doi:10.1001/archderm.141.10.1263

Objective  To analyze the 3β-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.