Children With SCD Exhibit Distinctive Palatal Rugae Patterns

Children with sickle cell disease (SCD) have distinctive physical anomalies, such as underdeveloped palatal rugae patterns, compared with otherwise healthy children, according to a study published in Heliyon.

Sickle Cell Disease illustration | image credit: freshidea - stock.adobe.com

SCD is known to delay growth in affected individuals, which contributes to craniofacial and skeletal alterations in areas such as their palate. These morphological variations are termed minor physical anomalies (MPAs). The authors of the current study have hypothesized that changes in palatal rugae patterns could be considered an MPA and, therefore, a useful marker for the early identification of SCD, although no SCD studies have reported on MPA in cases of sickle cell. To expand on this knowledge, the researchers designed a study to assess the morphology and frequency of palatal dimensions and rugae patterns in children with SCD compared with healthy children.

A total of 50 children with SCD (Group SCD) were compared with a control group of 50 healthy children (Group C). Each participant underwent a preliminary screening where perforated impression trays were used to record maxillary arch impressions. Palatal rugae was measured and categorized as fragmentary (< 3 mm), secondary (3-5 mm), or primary (> 5 mm). Additionally, the shapes of every primary palatal rugae were put in categories of circular, straight, wavy, curved, or non-specific.

In Group C, 98% of children (n = 49) had permanent dentition compared with 80% (n = 40) in Group SCD. There was 1 child who had mixed dentition (2%). The comparison of their malocclusion revealed statistical significance (P < .05).

Overall, 463 and 530 rugae were observed in Group SCD and Group C (P < .05), respectively. Group SCD exhibited less fragmentary rugae compared to Group C. There was not a statistically significant amount of primary rugae witnessed between groups; however, straight-shaped primary palatal rugae were less prevalent in Group C, and non-specific, circular, wavy, and curved primary rugae were less prevalent in Group SCD.

Group SCD exhibited differences in palatal area and width compared with Group C (0.86 vs 1; 2.4 vs 2.72; 1.46 vs 1.68) but these were not deemed significant. Significant differences were found, however, in the distance between incisive papilla and most anterior rugae (IA), last rugae (IF), and most posterior rugae (IP), respectively (P = .003; P = .094; P = .002).

"Considering the findings of the present study, it can be concluded that there is reduced growth of palate and palatal rugae in children with sickle cell disease,” the authors wrote. “To explain this on a molecular level, the influence of [signaling] pathways and various transcription factors such as Shh and Shox2 might contribute to differential patterning of palatal rugae patterns in SCD. The exogenous protein Shh expression is restricted to palatal rugae, which regulates Fgf10 and Fgf7 (Fibroblast growth factor 10 and 7) along the oral and nasal side, respectively, guiding the anteroposterior development of the palate.”

The authors also recognized the limitations of their study, citing obstacles such as many factors not reaching statistical significance and all of their participants coming from a singular geographic distribution. Nonetheless, they emphasized the importance of extrapolating this information and implementing future research efforts to investigate MPAs in SCD.

Reference

Shetty RM, Pashine A, Shetty S, et al. Minor physical anomalies including palatal rugae pattern and palatal dimensions in children with sickle cell disease: A cross-sectional analytical study. Heliyon. Published online January 12, 2024. doi:10.1016/j.heliyon.2024.e24363