Advanced Education, Faculty and Staff, Research

Scientists Identify Links Between a Rare Genetic Disorder and Risk for Developing a Subset of Oral Lesions

A new research study from a multidisciplinary research team at the UNC-Chapel Hill Adams School of Dentistry was recently featured on the cover of the journal of Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology.

The research team included former UNC-CH Adams School of Dentistry periodontology resident, George Getz III, DDS ‘09, MS ’18; Kshitij Sharma, BS, cell biology and physiology PhD candidate at the UNC-CH School of Medicine, Antonio Amelio, PhD, Ricardo Padilla, DDS, and Jonathan Reside, DDS, MS.

In the study, researchers confirmed that patients with oral lesions known as verruciform xanthoma (VX) share the same genetic mutations found in the skin of VX patients with congenital hemidysplasia with ichthyosiform erythroderma with limb defects (CHILD) syndrome, a rare genetic disorder. The study suggests a previously unknown genetic cause for developing these sporadic oral lesions with a corrugated surface and “foamy” cell appearance and that there may be an inheritable susceptibility.

Genetic mutations in the nicotinamide adenine dinucleotide phosphate (NAD[P]) steroid dehydrogenase-like (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.

The study authors analyzed archived tissues from patients at the UNC-CH Adams School of Dentistry Oral and Maxillofacial Pathology Lab using a Polymerase Chain Reaction (PCR) based protocol and Sanger Sequencing method 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.

Click here to read the team’s research in Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology.