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Mehra S, Li L, Fan C, Smoller B, Morgan M, Somach S. A Novel Somatic Mutation of the 3β-Hydroxysteroid Dehydrogenase Gene in Sporadic Cutaneous Verruciform Xanthoma. Arch Dermatol. 2005;141(10):1263–1267. doi:10.1001/archderm.141.10.1263
To analyze the 3β-hydroxysteroid dehydrogenase (NSDHL) gene in verruciform xanthoma (VX) to elucidate its potential role in the histogenesis of this lesion.
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.
Nine lesions of VX from 8 patients and 3 unrelated normal controls were evaluated.
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.
(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.
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