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

Cellular basis of verruciform xanthoma: immunohistochemical and ultrastructural characterization

“…It is a consensus of opinion that there is little published evidence in support of an etiological link between HPV infection and development of VX (Philipsen et al , 2003; Mehra et al , 2005). We confirmed, albeit in only 10 cases, the absence of virus particles.…”

“…Both membrane-bounded vacuoles in the keratinocytes (Zegarelli et al, 1975;Ronan et al, 1984;Nakamura et al, 1989;Balus et al, 1991) and foamy macrophages in the epithelium (Zegarelli et al, 1975;Cobb et al, 1976;Ronan et al, 1984), as we demonstrated, may offer ultrastructural evidence that lipids are epithelial in origin. Of interest is the recent report that genetic alterations of 3b-hydroxysteroid dehydrogenase are associated with a small subset of cutaneous VX (Mehra et al, 2005). Ox-LDL is known to be a potent chemoattractant for macrophages and T cells (Tabata et al, 2003;Robbesyn et al, 2004).…”

Verruciform Xanthoma: Immunohistochemical Characterization of Xanthoma Cell Phenotypes

“…Human papillomavirus has been postulated as an etiologic factor; however, there is little evidence to support this theory 2,24 . More recently, a mutation of 3β‐hydroxysteroid dehydrogenase, an enzyme essential for the biosynthesis of all classes of hormonal steroids, has been identified in a few cutaneous VX cases, 25 raising the possibility of a genetic basis for some VX cases. Because oral VX lesions mainly occur on masticatory mucosa, and particularly the gingiva, a traumatic or inflammatory etiology remains an attractive possibility.…”

Vegas (Verruciform Genital-Associated) Xanthoma: A Comprehensive Literature Review

“…f Mehra et al stated that one patient in their study had 2 scrotal lesions appearing at different times in the same year [46]. No other information about the lesions was given…”