NSDHL Mutations Associated with CHILD Syndrome Identified in Oral Verruciform Xanthoma While the etiology of Verruciform xanthoma (VX) lesions remains unclear, recent evidence suggests the possible role of a mutation in the NAD(P)-dependent steroid dehydrogenase-like (NSDHL) gene in cutaneous lesions. The aim of this study is to evaluate the presence of mutations of the NSDHL gene in cases of oral VX.

A total of 112 oral VX lesions were diagnosed at the UNC Pathology Laboratory and Biopsy Service between 2005-2017. DNA was extracted from the archived formalin-fixed and paraffin tissue blocks in a subset of 20 patients. Polymerase chain reaction was then used to screen for the presence of four known germline mutations in the NSDHL gene associated with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) Syndrome and one somatic mutation that was identified in VX lesions in a previous study with no known CHILD syndrome association.

A total of eight of the tissue samples had known missense mutations associated with CHILD syndrome. Furthermore, two of these aforementioned eight tissue samples also had additional missense mutations previously identified in VX lesions. Thus, oral VX lesions may be associated with mutations in the NSDHL gene.