Ectodermal dysplasia and dental treatment: a narrative review

1. Introduction

Ectodermal dysplasia (ED) comprises a large and heterogeneous group of inherited disorders characterized by congenital abnormalities affecting ectodermal tissues, including the skin, hair, nails, sweat glands, and teeth [1–2]. Because ectodermal derivatives are involved in multiple organ systems, clinical presentation can vary widely in severity and extent [3–5]. In the craniofacial region, ED-related alterations may be associated with reduced alveolar ridge development, bone atrophy, and altered maxillomandibular relationships, which can further compromise oral function and facial aesthetics [6–8]. As a result, ED may have a substantial impact not only on physical health but also on psychosocial well-being, particularly during childhood and adolescence when appearance, speech, mastication, and social integration play a central role [9–11].

Multiple syndromic and non-syndromic forms of ED have been described, with hypohidrotic ectodermal dysplasia (HED) representing the most frequently discussed subtype in dental rehabilitation literature. Depending on the underlying genetic defect, ED may follow X-linked, autosomal dominant, or autosomal recessive inheritance patterns, and patients within the same diagnostic category may still exhibit considerable phenotypic diversity. This genetic and clinical heterogeneity contributes to variability in oral findings and influences the feasibility, timing, and outcomes of dental interventions [12].

Oral manifestations are among the most clinically and psychosocially relevant features of ED. Dental anomalies, including hypodontia, oligodontia, or anodontia; conical or peg-shaped teeth; and enamel or morphological alterations, are frequently accompanied by underdeveloped alveolar ridges and reduced vertical dimension [13–14]. These conditions often result in impaired masticatory efficiency, altered phonation, and aesthetic concerns, which can affect self-esteem and social functioning [15–16]. Moreover, tooth agenesis and ridge deficiency may interfere with craniofacial growth patterns and occlusal development, potentially increasing the complexity of orthodontic and prosthodontic planning. The cumulative effect of these factors underscores the importance of early assessment and long-term follow-up within a multidisciplinary care pathway.

Dental rehabilitation in ED is challenging because treatment planning must account for the severity and distribution of tooth agenesis, the degree of alveolar bone deficiency, the patient’s age and growth status, and individual functional and psychosocial expectations. In children, early rehabilitation with removable prostheses is frequently recommended to facilitate speech development, improve mastication, support facial appearance, and promote psychosocial adaptation. However, removable appliances require periodic modification or replacement to accommodate craniofacial growth and evolving occlusal relationships, and patient cooperation remains a key determinant of success. In adolescents and adults, fixed prosthodontic and implant-supported solutions may offer improved stability and patient satisfaction. Yet, treatment is often complicated by limited bone volume, altered anatomy, and the potential need for augmentation procedures [17–22]. Importantly, the timing of implant placement in growing patients remains controversial because skeletal growth may affect implant position relative to adjacent structures and the occlusal plane over time. Despite the central role of dental management in ED, the evidence base remains limited and heterogeneous. The available literature largely consists of case reports and small case series, reflecting the rarity of the condition and the wide variability in clinical presentation. While these reports provide valuable insights into feasible therapeutic options and practical management strategies, they frequently rely on non-standardized assessment methods, include variable follow-up durations, and report outcomes inconsistently. This makes it difficult to compare interventions, identify optimal treatment sequences, or draw robust conclusions regarding long-term effectiveness and complication rates. In addition, objective functional outcomes and patient-reported measures, such as oral health-related quality of life, satisfaction, and psychosocial benefits, are not systematically reported across studies [23–25].

These limitations highlight several unmet needs, including clearer evidence-based guidance on treatment timing and selection of prosthetic modalities across different age groups, particularly regarding implant placement in patients who have not reached skeletal maturity. Furthermore, more consistent reporting of objective clinical endpoints, complications, maintenance requirements, and patient-centered outcomes would improve comparability and support more reliable clinical recommendations. Therefore, this narrative review aims to synthesize the available evidence on oral manifestations and dental rehabilitation in ED, summarize current clinical trends, and identify priorities for future prospective research with standardized outcome measures and longer follow-up [26–28].

2. Materials and Methods

This narrative review, with a structured literature search, was conducted to summarize and critically discuss the current evidence on oral manifestations and dental management in patients affected by ED. The review aimed to describe the range of treatment approaches reported in the literature, including prosthodontics, orthodontics, and implant-based rehabilitation, and to highlight clinical considerations relevant to both pediatric and adult patients. The aim was to provide a descriptive and integrative synthesis of available literature, consistent with a narrative review methodology.

2.3. Study Selection and Data Extraction

Titles and abstracts were screened for relevance, followed by full-text assessment of potentially eligible records. For each included publication, the following data were extracted:

• publication year and study design;
• patient characteristics (age, sex when reported);
• ED type/subtype (when specified);
• main oral/dental manifestations;
• dental treatment modality (removable and/or fixed prosthesis, implant-based rehabilitation, orthodontic interventions, adjunctive surgical procedures);
• follow-up duration;
• reported clinical outcomes and complications/challenges.

A summary table was constructed to facilitate comparison among studies (Table 1), and the study selection process was summarized using a PRISMA-style flow diagram (Figure 1) [29].

3. Results

4. Discussion

The present narrative review summarizes the available evidence on dental management in patients with ectodermal dysplasia, with particular attention to prosthodontic, orthodontic, implant-supported, and staged multidisciplinary approaches. Overall, the literature supports the clinical relevance of early dental intervention, but the strength of this conclusion should be interpreted with caution. Most of the available evidence consists of case reports, clinical reports, and small case series, with heterogeneous patient characteristics, treatment protocols, follow-up intervals, and outcome measures [25,30–32]. Therefore, the findings should not be interpreted as evidence of the superiority of one treatment modality over another, but rather as a synthesis of clinically feasible strategies reported in the current literature.

A consistent finding across the included studies and current literature is that dental treatment in the ED cannot be reduced to a single rehabilitative procedure. The clinical phenotype is highly variable, and treatment planning must be individualized according to the number and distribution of missing teeth, the morphology and prognosis of retained teeth, alveolar ridge development, craniofacial growth stage, occlusal relationships, functional demands, esthetic expectations, and psychosocial needs. In this sense, customization should be understood not merely as the adaptation of a prosthesis to the patient, but as a longitudinal decision-making process in which treatment timing, invasiveness, and reversibility are continuously balanced against growth, anatomy, and patient-centered priorities [33–34].

In children, conservative and removable approaches remain particularly relevant because they are reversible, modifiable, and compatible with craniofacial growth [35–37]. Removable partial or complete dentures, composite reshaping of conical teeth, and interim prosthetic solutions may improve mastication, speech, facial support, and social confidence. However, these outcomes are usually reported descriptively and are rarely supported by standardized functional tests or validated oral health-related quality-of-life instruments [38–39]. Moreover, removable appliances require periodic adjustment, relining, or replacement, and their success depends on patient cooperation, caregiver involvement, and long-term maintenance. For this reason, early conservative rehabilitation should be described as a useful and adaptable first-line strategy rather than as a definitive solution [40].

Orthodontic and dentofacial orthopedic interventions are best interpreted as enabling components of staged care. The reviewed studies suggest that orthodontics may help manage spacing, improve alignment, support arch coordination, and prepare the oral environment for subsequent restorative or prosthetic phases [41]. In patients with severe hypodontia or altered tooth morphology, anchorage limitations may require modified appliances or skeletal anchorage. Nevertheless, the available data are too limited to define standardized orthodontic protocols for ED. Current evidence supports case-based planning rather than generalized recommendations.

Implant-supported rehabilitation may offer functional and esthetic advantages in adolescents who have completed or nearly completed growth and in adult patients, particularly when removable prostheses are unstable or poorly tolerated [42]. Several included reports describe favorable implant-supported outcomes, and the largest retrospective cohort included in this review reported high short- to medium-term survival. However, implant therapy in ED is frequently complicated by reduced alveolar bone volume, altered anatomy, the need for bone augmentation or sinus elevation, and uncertainty regarding implant timing in growing patients [43–44]. Implant placement before skeletal maturity remains controversial and should be considered only in selected cases, with explicit discussion of growth-related risks, potential infraocclusion, prosthetic revisions, and future retreatment.

Digital planning, CBCT-based assessment, and guided surgery may improve communication among specialists and support prosthetically driven implant positioning in anatomically complex ED cases [45]. However, the current literature does not yet demonstrate that digital workflows independently improve long-term biological, functional, or patient-reported outcomes in the ED. Their value should therefore be framed as a planning aid rather than as evidence of superior treatment effectiveness.

The reviewers’ concern regarding the overstatement of outcomes is justified. Terms such as “excellent”, “predictable,” or “successful” should be avoided unless clearly supported by objective outcome measures and adequate follow-up. A more accurate interpretation is that many reports describe favorable short- or medium-term outcomes in selected patients, but these outcomes are difficult to compare across studies due to differences in age, phenotype, treatment sequence, prosthetic design, implant timing, and reporting standards [46]. The absence of comparative studies also prevents firm conclusions regarding the relative effectiveness of removable prostheses, fixed prostheses, implant-assisted overdentures, and implant-supported fixed restorations. A further limitation is the inconsistent assessment of patient-centered outcomes. Although several reports mention improvements in self-esteem, satisfaction, or social interaction, these dimensions are often described narratively rather than measured using validated instruments [47]. Given the psychosocial burden of missing or malformed teeth during childhood and adolescence, future studies should include standardized oral health-related quality-of-life measures, patient and caregiver satisfaction, speech and masticatory function, prosthesis maintenance burden, biological complications, and long-term prosthetic survival [48–49].

This narrative review therefore supports a staged, multidisciplinary, and individualized model of care, but it does not provide high-level evidence for a single preferred protocol. The most defensible clinical message is that conservative and removable strategies are generally appropriate during growth; orthodontic and orthopedic interventions may facilitate later rehabilitation; and implant-supported solutions may be considered after careful anatomical and growth assessment, especially in adolescents approaching skeletal maturity and in adults. Stronger recommendations require prospective multicenter studies, shared outcome definitions, and longer follow-up.

5. Conclusion

Dental rehabilitation in ectodermal dysplasia should be planned as a long-term, staged, and multidisciplinary process rather than as a single definitive intervention. Conservative and removable prosthetic approaches are particularly useful during childhood because they can restore function and esthetics while remaining adaptable to growth. Orthodontic and orthopedic procedures may support space management, arch coordination, and preparation for later rehabilitation. Implant-supported restorations can provide stable functional and esthetic outcomes in selected adolescents and adults. Still, their use requires careful assessment of skeletal maturity, bone volume, anatomical limitations, and maintenance needs.

The current evidence base remains limited, heterogeneous, and largely composed of low-level clinical evidence. Consequently, the available literature supports feasibility and potential benefit, but does not justify claims of consistently excellent outcomes or superiority of any single treatment strategy. Future research should prioritize prospective multicenter designs, standardized clinical and radiographic endpoints, validated patient-reported outcome measures, and long-term reporting of biological, prosthetic, and psychosocial outcomes. Until such evidence is available, treatment should be individualized, critically planned, and regularly revised throughout growth and adulthood.

Funding

This study was partially funded by the Italian Ministry of Health – Current Research IRCCS.

Institutional Review Board Statement: Not applicable.

This article is a narrative review and did not involve the collection of new data from human participants.

Informed Consent Statement

Not applicable.

Data Availability Statement

No new data were generated or analyzed in this study. The data discussed in this review are available in the cited publications.

Conflicts of Interest

The authors declare no conflicts of interest.

Abbreviations

ED

Ectodermal dysplasia

HED

Hypohidrotic Ectodermal Dysplasia

NOS

Newcastle-Ottawa Scale

PPE

Proprioceptive Passive Expansion