A new study led by UNC Lineberger’s Antonio “Tony” Amelio, PhD, and colleagues was published in the journal Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, and featured on the cover of the July issue. Amelio is an assistant professor in the UNC Adams School of Dentistry Division of Oral and Craniofacial Health Sciences.

He led the study with Ricardo Padilla, DDS, associate professor of Oral and Maxillofacial Pathology at the UNC Adams School of Dentistry Division of Diagnostic Sciences. Other members of the research team included former periodontology resident George “Chip” Getz, DDS, MS, UNC Adams School of Dentistry; Jonathan Reside, assistant professor of periodontology; and doctoral candidate Kshitij “Kay” Sharma, UNC School of Medicine Cell Biology and Physiology.

In the study, the researchers discovered that in a small sample, many patients with oral lesions known as verruciform xanthoma shared same genetic mutations with subjects with a rare genetic disorder called congenital hemidysplasia with ichthyosiform erythroderma with limb defects (CHILD) Syndrome. The study suggests a previously unknown genetic link for these sporadic oral lesions with “foamy” cell appearance, and that there may a may be an inheritable susceptibility.

“Since some oral lesions can progress to cancer, a better understanding of the underlying factors that promote development of these various types of lesions is important but currently limited,” Amelio said.

Genetic mutations in the NSDHL gene are associated with CHILD syndrome, an X-linked dominant lipid storage disease, and these patients can develop skin lesions due to epithelial barrier defects that present with similar appearance to lesions observed in oral VX patients. Therefore, the study authors analyzed archived tissues from patients presenting with oral lesions that exhibit classic “foam” cell appearance using a Polymerase Chain Reaction (PCR) based protocol and Sanger Sequencing methods to screen for the genetic mutations. The sequencing results were benchmarked to mutations engineered into an artificial DNA template to validate the study’s findings.

The study was supported by the Dental Foundation of North Carolina and the University Cancer Research Fund.