SEARCHCROSS-SECTIONALimmunology, pediatrics

cross-sectional·immunology, pediatrics, family medicine, internal medicine, epidemiology·PMC10258761

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

Orphanet Journal of Rare Diseases · 4 authors, 9 centres

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TL;DR

Deep periodontal pockets and oral mucosal lesions were significantly more prevalent in the CHH group.

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Deep periodontal pockets (CPI ≥3) were significantly more frequent in CHH patients than controls (p=0.002). Gingival bleeding on probing, aMMP-8 concentrations, malocclusion prevalence, and temporomandibular dysfunction prevalence did not differ significantly between groups.

STUDY TYPE

cross-sectional

SPECIALTY

immunology

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ORIGINAL PAPER

PMC10258761

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

Orphanet Journal of Rare Diseases

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ABSTRACT

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. Keywords: Immunodeficiency, Inborn error of immunity, Cartilage-hair hypoplasia, Periodontitis, Oral mucosal lesion

CITATION EXPORT

Heidi Arponen, Svetlana Vakkilainen, Jaana Rautava et al.. Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study. Orphanet Journal of Rare Diseases. (2023). https://doi.org/10.1186/s13023-023-02758-7

AUTHORS

4 · 9 CENTRES

Heidi Arponen, Svetlana Vakkilainen, Jaana Rautava, Outi Mäkitie

1Department of Oral and Maxillofacial Diseases, University of Helsinki, and Helsinki University Hospital Head and Neck Center, Helsinki, Finland
2Children’s Hospital, Pediatric Research Center, University of Helsinki, and Helsinki University Hospital, Helsinki, Finland
3City of Espoo, Social and Health Services, Espoo, Finland
4Children’s Hospital, Helsinki University Hospital, Helsinki, Finland
5Department of Oral and Maxillofacial Diseases, HUS Head and Neck Center, Department of Pathology, HUSLAB Diagnostics, Helsinki, Finland
6Institute of Dentistry, University of Turku, Turku, Finland
7Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland
8Folkhalsan Research Center, Helsinki, Finland
9Department of Molecular Medicine and Surgery, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden