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

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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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Most cited references 43

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Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications: recommendations of the International RDC/TMD Consortium Network* and Orofacial Pain Special Interest Group†.

Eric D Schiffman, Richard Ohrbach, Edmond L Truelove … (2014)

The original Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) Axis I diagnostic algorithms have been demonstrated to be reliable. However, the Validation Project determined that the RDC/TMD Axis I validity was below the target sensitivity of ≥ 0.70 and specificity of ≥ 0.95. Consequently, these empirical results supported the development of revised RDC/TMD Axis I diagnostic algorithms that were subsequently demonstrated to be valid for the most common pain-related TMD and for one temporomandibular joint (TMJ) intra-articular disorder. The original RDC/TMD Axis II instruments were shown to be both reliable and valid. Working from these findings and revisions, two international consensus workshops were convened, from which recommendations were obtained for the finalization of new Axis I diagnostic algorithms and new Axis II instruments. Through a series of workshops and symposia, a panel of clinical and basic science pain experts modified the revised RDC/TMD Axis I algorithms by using comprehensive searches of published TMD diagnostic literature followed by review and consensus via a formal structured process. The panel's recommendations for further revision of the Axis I diagnostic algorithms were assessed for validity by using the Validation Project's data set, and for reliability by using newly collected data from the ongoing TMJ Impact Project-the follow-up study to the Validation Project. New Axis II instruments were identified through a comprehensive search of the literature providing valid instruments that, relative to the RDC/TMD, are shorter in length, are available in the public domain, and currently are being used in medical settings. The newly recommended Diagnostic Criteria for TMD (DC/TMD) Axis I protocol includes both a valid screener for detecting any pain-related TMD as well as valid diagnostic criteria for differentiating the most common pain-related TMD (sensitivity ≥ 0.86, specificity ≥ 0.98) and for one intra-articular disorder (sensitivity of 0.80 and specificity of 0.97). Diagnostic criteria for other common intra-articular disorders lack adequate validity for clinical diagnoses but can be used for screening purposes. Inter-examiner reliability for the clinical assessment associated with the validated DC/TMD criteria for pain-related TMD is excellent (kappa ≥ 0.85). Finally, a comprehensive classification system that includes both the common and less common TMD is also presented. The Axis II protocol retains selected original RDC/TMD screening instruments augmented with new instruments to assess jaw function as well as behavioral and additional psychosocial factors. The Axis II protocol is divided into screening and comprehensive self report instrument sets. The screening instruments' 41 questions assess pain intensity, pain-related disability, psychological distress, jaw functional limitations, and parafunctional behaviors, and a pain drawing is used to assess locations of pain. The comprehensive instruments, composed of 81 questions, assess in further detail jaw functional limitations and psychological distress as well as additional constructs of anxiety and presence of comorbid pain conditions. The recommended evidence-based new DC/TMD protocol is appropriate for use in both clinical and research settings. More comprehensive instruments augment short and simple screening instruments for Axis I and Axis II. These validated instruments allow for identification of patients with a range of simple to complex TMD presentations.

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Local and systemic mechanisms linking periodontal disease and inflammatory comorbidities

George Hajishengallis, Triantafyllos Chavakis (2021)

Periodontitis, a major inflammatory disease of the oral mucosa, is epidemiologically associated with other chronic inflammation-driven disorders, including cardio-metabolic, neurodegenerative and autoimmune diseases and cancer. Emerging evidence from interventional studies indicates that local treatment of periodontitis ameliorates surrogate markers of comorbid conditions. The potential causal link between periodontitis and its comorbidities is further strengthened by recent experimental animal studies establishing biologically plausible and clinically consistent mechanisms whereby periodontitis could initiate or aggravate a comorbid condition. This multi-faceted ‘mechanistic causality’ aspect of the link between periodontitis and comorbidities is the focus of this Review. Understanding how certain extra-oral pathologies are affected by disseminated periodontal pathogens and periodontitis-associated systemic inflammation, including adaptation of bone marrow haematopoietic progenitors, may provide new therapeutic options to reduce the risk of periodontitis-associated comorbidities.

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Prevalence of periodontitis in adults in the United States: 2009 and 2010.

R Genco, P Eke, B Dye … (2012)

This study estimated the prevalence, severity, and extent of periodontitis in the adult U.S. population, with data from the 2009 and 2010 National Health and Nutrition Examination Survey (NHANES) cycle. Estimates were derived from a sample of 3,742 adults aged 30 years and older, of the civilian non-institutionalized population, having 1 or more natural teeth. Attachment loss (AL) and probing depth (PD) were measured at 6 sites per tooth on all teeth (except the third molars). Over 47% of the sample, representing 64.7 million adults, had periodontitis, distributed as 8.7%, 30.0%, and 8.5% with mild, moderate, and severe periodontitis, respectively. For adults aged 65 years and older, 64% had either moderate or severe periodontitis. Eighty-six and 40.9% had 1 or more teeth with AL ≥ 3 mm and PD ≥ 4 mm, respectively. With respect to extent of disease, 56% and 18% of the adult population had 5% or more periodontal sites with ≥ 3 mm AL and ≥ 4 mm PD, respectively. Periodontitis was highest in men, Mexican Americans, adults with less than a high school education, adults below 100% Federal Poverty Levels (FPL), and current smokers. This survey has provided direct evidence for a high burden of periodontitis in the adult U.S. population.

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Author and article information

Contributors

Heidi Arponen:

ORCID: http://orcid.org/0000-0003-0359-1486

Heidi.arponen@helsinki.fi

Journal

Journal ID (nlm-ta): Orphanet J Rare Dis

Journal ID (iso-abbrev): Orphanet J Rare Dis

Title: Orphanet Journal of Rare Diseases

Publisher: BioMed Central (London )

ISSN (Electronic): 1750-1172

Publication date (Electronic): 12 June 2023

Publication date PMC-release: 12 June 2023

Publication date Collection: 2023

Volume: 18

Electronic Location Identifier: 147

Affiliations

[1 ]GRID grid.7737.4, ISNI 0000 0004 0410 2071, Department of Oral and Maxillofacial Diseases, , University of Helsinki, and Helsinki University Hospital Head and Neck Center, ; Helsinki, Finland

[2 ]GRID grid.15485.3d, ISNI 0000 0000 9950 5666, Children’s Hospital, Pediatric Research Center, , University of Helsinki, and Helsinki University Hospital, ; Helsinki, Finland

[3 ]City of Espoo, Social and Health Services, Espoo, Finland

[4 ]GRID grid.15485.3d, ISNI 0000 0000 9950 5666, Children’s Hospital, , Helsinki University Hospital, ; Helsinki, Finland

[5 ]GRID grid.15485.3d, ISNI 0000 0000 9950 5666, Department of Oral and Maxillofacial Diseases, HUS Head and Neck Center, Department of Pathology, , HUSLAB Diagnostics, ; Helsinki, Finland

[6 ]GRID grid.1374.1, ISNI 0000 0001 2097 1371, Institute of Dentistry, , University of Turku, ; Turku, Finland

[7 ]GRID grid.7737.4, ISNI 0000 0004 0410 2071, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, , University of Helsinki, ; Helsinki, Finland

[8 ]GRID grid.428673.c, ISNI 0000 0004 0409 6302, Folkhalsan Research Center, ; Helsinki, Finland

[9 ]GRID grid.24381.3c, ISNI 0000 0000 9241 5705, Department of Molecular Medicine and Surgery, Karolinska Institutet and Clinical Genetics, , Karolinska University Hospital, ; Stockholm, Sweden

Author information

Heidi Arponen http://orcid.org/0000-0003-0359-1486

Article

Publisher ID: 2758

DOI: 10.1186/s13023-023-02758-7

PMC ID: 10258761

PubMed ID: 37308912

SO-VID: 0a916f66-be02-438d-acbf-f284fd2aa633

License:

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 5 September 2022

Date accepted : 4 June 2023

Funding

Funded by: University of Helsinki including Helsinki University Central Hospital

Open Access :

Open Access funding provided by University of Helsinki including Helsinki University Central Hospital.

Custom metadata

ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: immunodeficiency,inborn error of immunity,cartilage-hair hypoplasia,periodontitis,oral mucosal lesion

Data availability:

ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: immunodeficiency, inborn error of immunity, cartilage-hair hypoplasia, periodontitis, oral mucosal lesion

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

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Abstract

Background and objectives

Methods

Results

Conclusions

Related collections

Point-of-Care Testing for HIV

Most cited references 43

Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications: recommendations of the International RDC/TMD Consortium Network* and Orofacial Pain Special Interest Group†.

Local and systemic mechanisms linking periodontal disease and inflammatory comorbidities

Prevalence of periodontitis in adults in the United States: 2009 and 2010.

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