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Scientists Report Oral Alterations May Help Diagnose Rare Condition

February 21, 2008

During the 1990s, the genetics revolution arrived in laboratories with a wave of provocative and sometimes bewildering scientific terminology.  Alleles, zygotes, haplotypes, single nucleotide polymorphisms, linkage disequilibrium. But for people with one of the hundreds of rare genetic syndromes recorded in the medical literature, these tongue-twisting terms were conceptual stepping stones along the road to an eventual cure. They would speed the discovery of the gene underlying their condition, lead to predictive tests for loved ones at risk, and set in motion research on better treatments. Today, this scenario is in play for many rare diseases. But certainly not for all. Some conditions, such as hyperimmunoglobulin-E syndrome (HIES) remain without a gene in GenBank or a definitive genetic test. In the interim, new approaches to diagnose and treat this inherited immunodeficiency could provide a big help.
In the January issue of the journal Oral Diseases, NIDCR scientists and colleagues greatly extend previous reports that people with HIES often share certain facial features, such as a prominent forehead or an incomplete fusion of the skull. They found that in a cohort of 60 HIES patients that oral lesions “were significantly more prevalent” than shared facial features. The scientists found that more than half of their patients had distinctive lesions on the roof of the mouth and tongue. Eight percent also had distinctive changes to their lips, and 23 percent had alterations of their buccal mucosa. In total, three of four patients with the condition had some characteristic alteration in the mouth. As the researchers concluded, “In addition to other known features of the syndrome, clinicians may utilize these new oral entitites in the recognition of HIES.”

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This page last updated: April 01, 2014