Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study.

Orphanet J Rare Dis

Children's Hospital, Pediatric Research Center, University of Helsinki, and Helsinki University Hospital, Helsinki, Finland.

Published: June 2023

AI Article Synopsis

  • Cartilage-hair hypoplasia (CHH) is a rare condition that affects cartilage and the immune system; this study aimed to assess oral health in individuals with CHH compared to controls.
  • The research involved 23 individuals with CHH and 46 controls, examining factors like periodontal disease, tooth decay, and oral lesions, with results showing more severe oral health issues in those with CHH, including deeper periodontal pockets and higher rates of mucosal lesions.
  • Findings suggest that individuals with CHH should receive more frequent dental examinations due to their increased oral health risks.

Article Abstract

Background And Objectives: Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia with associated primary immunodeficiency. The aim of this cross-sectional study was to examine oral health indicators in individuals with CHH.

Methods: In total, 23 individuals with CHH, aged between 4.5 and 70 years, and 46 controls aged between 5 and 76 years were clinically examined for periodontal disease, presence of oral mucosal lesions, tooth decay, masticatory system function, and malocclusions. A chairside lateral flow immunoassay test of active-matrix metalloproteinase was obtained from all the adult participants with a permanent dentition. Laboratory signs of immunodeficiency were recorded for individuals with CHH.

Results: Individuals with CHH and controls had similar prevalence of gingival bleeding on probing (median 6% vs. 4%). Oral fluid active-matrix metalloproteinase concentration was greater than 20 ng/ml in 45% of study subjects in both groups. However, deep periodontal pockets, 4 mm or deeper, were more common in individuals with CHH as compared to the controls (U = 282.5, p = 0.002). Similarly mucosal lesions were significantly more common in individuals with CHH (30% vs. 9%, OR = 0.223, 95%CI 0.057-0.867). The median sum of the number of decayed, missing due to caries, and filled teeth was nine for the individuals with CHH and four for controls. In the CHH cohort, 70% displayed an ideal sagittal occlusal relationship. Malocclusion and temporomandibular joint dysfunction prevalence were similar in both study groups.

Conclusions: Individuals with CHH have more frequently deep periodontal pockets and oral mucosal lesions than general population controls. Routine intraoral examination by a dentist at regular intervals should be recommended to all individuals with CHH.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258761PMC
http://dx.doi.org/10.1186/s13023-023-02758-7DOI Listing

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