Epidemiological Aspects of Dental Anomalies in Moroccan Patients with Rare Diseases. Volume 5 - Issue 3

KH Oumensour¹*, M Hamza¹, Atazzit², H Dehbi^2,3 and S EL Arabi¹

• ¹Department of Pedodontics and Preventive dentistry, Faculty of Dentistry, University Hassan II Casablanca, Morocco
• ²Laboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco
• ³Laboratory of Medical Genetics, IBN ROCHD University Hospital, Casablanca, Morocco

Received: March 25, 2022;   Published: May 26, 2022

Corresponding author: KH Oumensour, Department of Pedodontics and Preventive dentistry, Faculty of Dentistry, University Hassan II Casablanca, Morocco

DOI: 10.32474/MADOHC.2022.05.000214

Abstract PDF

Abstract

Children with rare diseases present various clinical manifestations affecting different structures and viscera. The oral cavity is no exception and shows several dental anomalies. These anomalies are very frequent but not well studied in our population. Thereby, the present study was conducted to evaluate the epidemiological and clinical features of dental anomalies in Moroccan patients with rare diseases.

Material and methods: A descriptive study was carried out on a sample of children and adolescents with rare disease recruited from the Pedodontics and the Medical Genetics Departments of ibn Rochd University Hospital of Casablanca. Each patient underwent clinical and radiographic examinations. Sociodemographic, clinical and para-clinical data were collected.

Results: A total of 65 patients with rare diseases were included in the study. 44.6% of the cases had a labeled rare disease while 55.4% of the patients were awaiting diagnosis. Dental anomalies were present in 76.9% patients including developmental anomaly, structural anomaly and eruption anomaly with frequencies of 45.5%, 21.1% and 33.3% respectively.

Conclusion: The prevalence of dental anomalies in the present study underlines the importance of a systematic dental examination in patients with rare diseases. The objective of this examination is to detect the pathognomonic oral signs of certain rare diseases which could contribute to the acceleration of the diagnostic process and to take care of these dental disorders at an early stage.

Introduction

The qualification of a disease as rare results from the observation of the disease below a given threshold. For the European organization for rare diseases (EURORDIS), this threshold is set at 1/2000. This threshold has been adopted by several European countries, but not all of them. Indeed, lower thresholds of 1/10000 and 1/50000 have been adopted by Denmark Sweden, and United Kingdom respectively. However, in the United States the threshold is set at 1/1000. In Morocco, these pathologies affect approximately 1.5 million people (Alliance Maladies Rares Maroc) [1,2]. Today, the number of rare diseases is estimated at between 6000 and 8000. These diseases are characterized by a great disparity in terms of frequency, i.e., within this group of diseases, some are even rarer than others according to a gradient of rarity [1,3]. Consequently, the diagnosis of these diseases takes far too long. Moreover, these patients generally receive symptomatic treatments before the discovery of the disease. Basic treatment is limited to certain less rare pathologies, because the fewer people affected, the less likely it is to be treated adequately [1,3]. On the other hand, the etiology of many rare diseases remains unknown. Still, genetic origin explains a large number of these diseases. Other etiologies may be responsible, such as infectious, tumoral or other origins.

These rare diseases are very expressive in terms of clinical manifestations, affecting different structures and viscera. The oral cavity is no exception and shows several dental anomalies [1,4]. Indeed, these rare pathologies disturb the fundamental factors of odontogenesis and lead to the appearance of one or several dental anomalies. This can be an alteration of the external appearance, internal structure or topography of one or more teeth. These developmental disorders may be manifested by variations in the number, position, size, shape, eruption or structure of the teeth [5]. These dental changes have been reported to be important components in many rare syndromic diseases. Their presence can be a useful diagnostic clue for rare diseases [5]. According to the literature, among more than 5000 known syndromes, more than 900 have dento-orofacial signs and 750 are associated with orofacial clefts[4]. Despite the diversity of dental manifestaions in rare diseases, very few studies have addressed this topic. Generally, studies have evaluated the prevalence of dental anomalies in some specific patients not affected by rare diseases such as patients undergoing orthodontic treatment and, patients with nonsyndromic cleft lip and palate[6-12]. The aim of the present study was to analyze the epidemiological and clinical features of dental manifestations in Moroccan patients with rare diseases observed in the Pedodontics Department (CCTD of Casablanca) and the Medical Genetics Department (Ibn Rochd University Hospital of Casablanca).

Material and methods

Study Population and Data Collection

A descriptive cross-sectional study was conducted in two departments of Ibn Rochd University Hospital namely the Pedodontics departments at the Casablanca Dental Consultation and Treatment Center and the Molecular Genetics and Medical Biology Department. The survey was conducted for one year (January 2019-December 2019).

All patients meeting the criteria below, were included in this study:

a) Patient with an identified or pending rare disease.

b) Age between 3 and 19 years

c) Dental status allowing the examination of a possible dental anomaly (Absence of severe EPC,

Absence of iatrogenic traumatic lesions, Absence of extensive and multiple coronal fillings).

a. Optimal cooperation in the management of the panoramic radiograph.

b. Informed consent of the parents.

Data were collected using a form, designed by the Pedodontics Department, with 3 sections:

a) Patient identification: sex, age, city, department assigned and reason for consultation.

b) General condition: consanguinity, rare disease, family history, affected ectodermal derivatives, craniofacial syndrome, affected craniofacial structure and general manifestations.

c) Dental status: dentition and dental anomaly.

All patients benefited from a general examination, a dysmorphic examination and a radiographic examination (a panoramic image). Statistical analysis was performed using the SPSS software in the laboratory of epidemiology and bio-statistics of the Faculty of Dentistry of Casablanca

Results

The study involved 83 patients with an identified or pending rare disease. 18 patients were excluded from the study because of lack of cooperation. The general characteristics of the patients (age, sex, reason for consultation) are presented in (Table 1). Consanguinity was observed in 38 patients (58.5%). Most of them (71.1%) had 1st degree consanguinity. Eight patients (12.3%) have reported a positive family history especially in female siblings (75%). In 29 patients (44.6%), the rare disease was diagnosed, while the diagnosis is in progress in 36 patients (55.4%). The study revealed 22 labeled rare diseases with various clinical manifestations (Table 2). Moreover, the results showed that 50 patients (79.9%) had at least one dental anomaly (Table 3). Different types of dental anomalies were observed including developmental anomalies (45.5%), structural anomalies (21.1%) and eruption anomalies (33.3%). Among patients with dental anomalies, 31 cases (62%) were born to consanguineous marriage. Concerning developmental anomalies, the study showed the presence of 64 teeth with some types of developmental anomalies. Indeed, 12 teeth had a shape anomaly (18.8%), 12 teeth had a size anomaly (18.8%), 18 teeth had a number anomaly (28.1%) and 14 teeth had a position anomaly (21.9%) (Table 4). Furthermore, structural anomalies were very varied and have affected 14 patients (Table 5). Eruption anomalies were observed in 22 patients (33.3%) affecting 24 teeth (Table 6). Dental anomalies were also studied according to the identified rare diseases and those in the process of being identified. Among all the patients diagnosed with dental anomaly, 21 cases (42%) had an identified rare disease, 29 cases (58%) had a rare disease under identification. Table 7 shows the different dental anomalies observed for each identified rare disease.

Discussion

The present study has enrolled 65 patients with a rare disease. Our sample size is quite large compared to previous studies such as the study of Hubert Désiré Mbassi Awa et al. [13], which analyzed 37 patients with rare diseases. This final sample size was achieved because the recruitment was conducted in two departments potentially frequented by patients with rare diseases. Nearly half of our patients were male aged between 11 and 19 years. Rare disease was not yet labeled in over half of the cases. Therefore, these patients did not benefit from etiological treatment, their management was limited to symptomatic treatments. In addition, the present study found parental consanguinity in 58.5% of all patients especially the 1st degree consanguinity. As previously reported, the relationship between consanguinity and genetic abnormalities has been confirmed [14]. On the other side, most of the patients had consulted a pedodontics. This has facilitated the investigation as these patients have been treated in the department and were familiar with the dental environment. Indeed, the prevalence of dental anomalies in this series was higher compared to healthy patients, patients receiving orthodontic treatments, and patients with non-syndromic cleft lip and palate [4,6,15-19].

The results of the major studies that addressed this topic are summarized in Table 8. It should be noted that dental anomalies have rarely been evaluated in patients with rare diseases. Majority of studies are descriptive. For example, the study conducted by Hubert Désoré Mbassi Awa et al. [13] , was interested in all oral manifestations including dental anomalies. This study reported a high prevalence of 97.2%. However, this result does not provide information on the prevalence of dental anomalies since the analysis also includes dental caries and MDD. Given the scarcity of surveys on rare diseases and dental anomalies, the distribution of the latter was compared to the results reported in healthy patients.

Our study showed that 62% of patients with dental anomalies were born to consanguineous marriage. This is consistent with the results of Saima Y Khan et al, and Umamaheswari T N et al. These findings highlight the implication of genetics in tooth development and formation [20,21].

In our study, developmental anomalies were the most common, followed by eruption anomalies and structural anomalies. Regarding dental anomalies, the majority of patients with a rare disease had at least one dental anomaly. This finding suggest a possible causal link between rare diseases and dental anomalies. Other studies have shown similar prevalence of dental anomalies [22-26]. Furthermore, the obtained results are in line with the commonly accepted finding that developmental anomalies are more common than structural anomalies [27]. With regard to developmental anomalies, numerical abnormalities were manifested mainly by dental agenesis. Several studies carried out in different countries have demonstrated the important prevalence of dental agenesis compared to other types of numerical dental anomalies. The analysis of the characteristics of eruption anomalies shows that delayed eruption was the most frequent form and represented 75% of all eruption anomalies. Structural anomalies are the least common and are characterized mainly by acquired enamel anomalies. Several studies have reported the rarity of structural anomalies affecting enamel, dentin or both [28,29]. (Table 9) The comparison of dental anomalies observed in rare diseases with the literature enriched the list of possible dental anomalies observed in these diseases by adding to the existing anomalies new types that have not been previously reported [30-50]. Furthermore, the present study have identified for the first-time some dental anomalies associated with some rare diseases such as Langer Giedon’s disease, for which our results showed the presence of dental fusion, agenesis and macrodontia.

Conclusion

The results of the present study showed that rare diseases are prone to complex and diverse dental anomalies. The diagnosis of these dental manifestations is important since it will allow us to collect data that can be used to detect the common characteristics of rare diseases. This will enrich the clinical picture of these diseases and contribute to their diagnosis. In addition, the early management of dental anomalies will promote the oral health of patients with rare diseases, thus improving their quality of life.

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