Periodontal Ehlers–Danlos syndrome in early childhood: A case report of loss of deciduous teeth : Journal of Indian Society of Periodontology

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Case Report

Periodontal Ehlers–Danlos syndrome in early childhood: A case report of loss of deciduous teeth

Martins, Ricardo Souza; Muniz, Francisco Wilker Mustafa Gomes1,; Gondim, Juliana Oliveira; Maurique, Luísa De Souza2; Nolasco-Lopes, Clélia Maria; Oliveira, Bibiana Mello De3; Carvalho, Rosimary De Sousa

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Journal of Indian Society of Periodontology 27(1):p 99-103, Jan–Feb 2023. | DOI: 10.4103/jisp.jisp_266_22
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Periodontitis is an immune-inflammatory disease caused by chronic deposition of biofilm in the periodontal tissues, triggering clinical attachment destruction and, in more advanced cases, tooth loss.[1] The pathogenesis of periodontal disease is influenced by various host factors, including immune response, anatomical factors, and tissue structural factors. Most of these factors are determined by the genetic profile of the host. Periodontal diseases and certain systemic disorders share similar genetic and environmental etiological factors. Therefore, affected individuals may show manifestations of both diseases. Hence, loss of periodontal tissue is a common manifestation of certain systemic disorders, which could have important diagnostic value and therapeutic implications.[2]

The occurrence of periodontitis among children is very low, as one study stated that its prevalence varies from 1.1% to 7.8% among children/adolescents, and few teeth are lost due to this disease.[3] Conversely, a high prevalence of gingivitis is reported in these individuals, but there is a scarcity of studies that demonstrate the prevalence of severe destructive forms of periodontal disease among children, especially in those with systemic comorbidities.[3]

Ehlers–Danlos syndrome (EDS) is considered a group of rare diseases that affect the connective tissues, mainly damaging the metabolism of collagen.[45] This disorder is often caused by mutations in genes encoding fibrillary collagens or enzymes involved in the biosynthesis of these proteins.[4] Deficiency and disordered deposition of collagen on skin and joints are associated with this condition.[5] Joint hypermobility, hyperelasticity, skin fragility, poor wound healing, and bruising caused by minor trauma are characteristics of EDS.[5] Moreover, it is reported that these patients may present cardiovascular complications (aneurysms and prolapse of the mitral valve), gastrointestinal complications (hernias and gastrointestinal diverticulosis), and other connective tissue alterations.[5]

Regarding the oral manifestations, patients with EDS may present fragile mucous membranes, a tendency to bleed, incomplete tooth formation, short dental roots, higher incidence of dental caries, and hypermobility of the mandibular joint.[6] In addition, literature reports that some specific subtypes of EDS are associated with a higher prevalence of periodontitis, such as the periodontal EDS (pEDS), which showed a prevalence of 98.4% of severe periodontitis.[6] Meanwhile, other EDS subtypes may present a low occurrence of periodontitis.[6] Little information is available about the effect of pEDS in early childhood. Therefore, the present study aimed to report a case of early tooth loss in a 3-year-old child with severe periodontitis, as a manifestation of pEDS, in a family with many affected individuals.


A 3-year-old, female patient sought the School of Dentistry of the local university, complaining of generalized tooth mobility and spontaneous gingival bleeding. Her mother noticed the first symptoms when the child was 2-year-old. In the general health questionnaire, no noteworthy condition or use of medications were reported. Regarding the dental history, the patient visited several dentists before the appointment at the university, but no oral treatment was performed up to that moment. Several members of the family, such as her grandmother, mother, aunt, and cousins, presented tooth mobility and early exfoliation of permanent teeth. No history of early loss of the primary teeth was reported among her family.

The initial clinical and radiological condition of the patient is demonstrated in Figure 1a-c. In this appointment, it was noticed the absence of several deciduous teeth, including those presented in previous panoramic radiography. Those teeth were removed at home, as they presented extreme mobility. During the initial oral examination, it was also noticed that several remaining teeth presented mobility, clinical attachment loss, and high accumulation of dental biofilm. However, a periodontal examination was not possible at this moment.

Figure 1:
Initial overall clinical condition of the patient (a and b) and initial radiological condition of the patient (c)

The proposed treatment plan for the patient was the removal of all hopeless teeth, supragingival and subgingival mechanical removal of biofilm and calculus of all teeth present, and oral hygiene instructions. Moreover, the patient was referred to a medical geneticist to investigate any related systemic condition. Approximately 1 month after the first appointment, the patient returned, but only oral hygiene instruction was performed. No other oral procedure was possible at that moment, as the patient did not cooperate during the appointment.

During the appointment with the physician, it was also reported the presence of leg stains, difficult to heal wounds, and a history of premature births in several members of the family. Figure 2 shows the leg stain on one of the child’s uncles. It was also requested several blood tests, as presented in Table 1. All the results were considered adequate. In addition, a genealogic analysis was performed by a medical geneticist. Unfortunately, due to the higher cost, a whole genome screen was not possible to be performed. The detailed review of family history showed that her mother, maternal grandmother, maternal aunt, several cousins, and great aunt had a history of periodontal disease, skin fragility, and poor wound healing [Figure 3], suggesting an autosomal dominant inheritance pattern. Therefore, the diagnosis of pEDS was established.

Figure 2:
Leg stains observed in the uncle of the case index
Table 1:
Results of the blood tests requested by the medical geneticist
Figure 3:
Genealogic analysis obtained by the detailed review of family history

Regarding the dental appointments, in the interval between sessions, the patient continued to lose several teeth, which were extracted at home [Figure 4a]. Moreover, four other teeth were extracted due to their extreme mobility. To achieve proper supragingival biofilm control, 0.12% chlorhexidine gel was prescribed to be used for 2 months (Clinexidin, Dentalclean, Londrina, Brazil). Again, it was tried to perform a periodontal examination, but the severely agitated behavior of the child did not allow it. Two months after the first panoramic radiography, another one was made [Figure 4b].

Figure 4:
Teeth lost in the interval between sessions. The teeth were conditioned by the mother of the patient. (a) Radiological condition of the patients 10 months after the first panoramic radiographic (b)

The patient failed to attend several of the appointments, when she returned, 3 months later; only two upper second deciduous teeth were present. In addition, two first permanent molars were erupting [Figure 5a and b]. In this session, a periodontal clinical examination was performed, and bleeding on probing and clinical attachment loss were detected in the superior teeth. After the photography, the patient received scaling and root planing (SRP) in the superior teeth to treat the periodontitis. Lower teeth received only oral hygiene instructions, as no signal of gingival inflammation was detected in these teeth. The patient is now included in a periodontal maintenance program to prevent the recurrence of the disease. Moreover, she is accompanied by a medical geneticist.

Figure 5:
Clinical aspects of the patient at her last visit, upper (a) and lower (b) aspects of her dentition


In this study, a 3-year-old child with generalized periodontitis, probably associated with pEDS, is presented.[127] Periodontitis represents an important oral health problem, due to its high prevalence in the population, leading to impairment in masticatory capacity, esthetics aspects, quality of life, and overall health.[1] EDS is considered a group of rare diseases that affect connective tissues, mainly damaging the metabolism of collagen, which may impact the loss of periodontal tissue.[2] Individuals with pEDS have a gingival recession and generalized severe periodontitis that often leads to loss of all teeth.[2] In the present case, the patient had a gingival recession, generalized periodontitis, and lost almost all teeth.

The literature reports that periodontitis can be successfully treated by SRP.[8] In the present case, this treatment was not possible to be performed in the first sessions, as most of the teeth presented mobility due to high clinical attachment loss. Moreover, in the course of the treatment, it was detected that several teeth needed to be extracted. In addition, the severely agitated behavior of the child was detected in most of the sessions. In this sense, most of the planned periodontal therapy needed to be postponed, worsening the prognosis of the patient.

The prevalence of EDS is estimated as 1–5000 or 1–10,000, affecting all ethnic groups, with similar proportions between males and females.[9] EDS is a group of inherited disorders characterized by generalized fragility of connective tissues. Literature reports that a few subtypes of EDS may be associated with higher destruction of periodontal tissues, such as the periodontal subtype,[6] leading to early tooth loss. Joint hypermobility and other skin manifestations may also be present in these patients.[10]

pEDS subtype (previously described as subtype VIII) may be a distinct syndrome with important differences from the other subtypes. pEDS is inherited in an autosomal dominant pattern and is caused by heterozygous gain of function mutations in C1R and C1S genes,[4] which triggers extensive periodontal inflammation and alveolar bone breakdown in response to mild biofilm accumulation. These findings are well established in the literature regarding permanent teeth,[6] but there is no report for deciduous teeth. For most EDS subtypes, the diagnosis is based on clinical features.[9] Clinical diagnostic criteria for pEDS are shown in Table 2. Some patients may present an unclear diagnosis, as their characteristics may not fit any EDS subtypes. In this sense, genome screening may also be applied to these individuals.[4] In the present case, clinical periodontal EDS diagnosis was based on the clinical criteria and family history analysis.

Table 2:
Diagnostic criteria for periodontal Ehlers-Danlos syndrome[10]

The minimal criteria that have to be met for the diagnosis of pEDS consist of major criteria “early and severe periodontitis” or “lack of attached gingiva” and at least two other major criteria and one minor criterion. The defining extraoral feature of pEDS is pretibial hyperpigmentation, whereas other characteristics include easy bruising, skin fragility, and mild skin hyperextensibility.[10] In the present case report, early loss of deciduous teeth, lack of attached gingiva (both are major criteria), and easy bruising (minor criteria) were observed in the child, which was essential for the diagnosis of pEDS.

It is important to highlight that EDS is not curable, but its symptoms may be controlled. The treatment of these patients requires a multidisciplinary approach, which may involve physicians, dentists, physical therapists, and other health-care professionals, minimizing the effects of the syndrome. Regarding the periodontal conditions, subgingival periodontal treatment, a strict oral hygiene program, and proper management of the child’s behavior must be implemented, in her permanent dentition, to treat and prevent disease occurrence.

The loss of periodontal tissue is a common manifestation of certain systemic conditions, characterizing these diseases and the nature of the association between them has important diagnostic and therapeutic value. The presence of pEDS may also affect the periodontal tissues of deciduous teeth, with variable expressivity, even within the same family. A strict oral hygiene program and SRP must be implemented to treat periodontitis properly. A multidisciplinary approach is necessary to monitor future complications related to diseases, aiming for a better quality of life for these individuals.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given consent for the child’s images and other clinical information to be reported in the journal. The guardian understands that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

This study was financed in part by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil (CAPES) - Finance Code 001. All other funding was self-supported by the authors.

Conflicts of interest

There are no conflicts of interest.


The authors would like to thank Dr. Erlane Marques Ribeiro for her assistance in the genetics appointment.


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Key words:; Child; deciduous tooth; periodontal diseases

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