Introduction

Ectodermal dysplasia syndromes (EDs) are a rare group of inherited conditions characterized by abnormal development of at least two ectoderm-derived structures, including hair, nails, teeth, skin, and sweat glands (1). Clinically, EDs are broadly classified into two main types: the X-linked hypohidrotic form (HED), also known as Christ–Siemens–Touraine syndrome, and the hidrotic form. HED is defined by a classic triad of features—hypodontia or anodontia, sparse hair (hypotrichosis), and reduced or absent sweating (hypohidrosis or anhidrosis) (2, 3). Mutations in the ectodysplasin-A (EDA) gene or its associated receptors (Ectodysplasin A Receptor, EDAR-Associated Death Domain) are responsible for X-linked, autosomal dominant, and autosomal recessive forms of HED (1, 4). Affected individuals typically present with conical or peg-shaped teeth, generalized oligodontia, underdeveloped alveolar ridges, taurodontism, thin or hypoplastic skin, and reduced salivary flow (2, 5). Impaired thermoregulation, due to dysfunctional or absent sweat glands, is among the most serious complications, increasing the risk of hyperthermia in hot environments or during physical activity.

Recent epidemiological studies have provided updated insights into the global prevalence of ectodermal dysplasias. A 2024 nationwide study from Denmark estimated the minimum birth prevalence of all EDs at 14.5 per 100,000 live births, with X-linked HED specifically reported at 2.8 per 100,000 live births (6). Other reports have cited a general incidence of approximately 7 per 100,000 live births (10). However, there is currently no published data available regarding the prevalence of HED in Saudi Arabia, including specific cities such as Jeddah. Dental abnormalities remain the most prominent and functionally significant feature of HED, commonly prompting clinical diagnosis in early childhood (5, 7). Diagnosis relies on clinical features and family history, often confirmed by genetic testing. Management is multidisciplinary and symptom-focused, addressing issues related to thermoregulation, oral function, and psychosocial development. Early dental intervention, particularly prosthetic rehabilitation, plays a key role in improving mastication, speech, esthetics, and self-esteem (7-9). Prosthodontic care in young patients poses unique challenges due to underdeveloped alveolar ridges, jaw growth, and retention difficulties. This case report presents the full-mouth rehabilitation of a pediatric patient with HED, highlighting the clinical considerations and prosthetic strategies used to restore oral function and facial esthetics.

Case Presentation

The patient was diagnosed with hypohidrotic ectodermal dysplasia at the age of 4, two years before presentation. He has no known drug allergies (NKDA) or food allergies. His vaccination history is complete and up to date. He was born full-term via natural vaginal delivery and has never been hospitalized. His medical history includes the absence of sweating, dry skin, and heat intolerance. Growth parameters are within normal limits, with both height and weight at the 50th percentile for his age based on the CDC 2000 growth charts (10).

Extraoral examination revealed sparse, dry, and lightly pigmented hair, along with absent eyelashes and eyebrows. The skin was dry and hypopigmented. Other findings included heat intolerance due to reduced sweating, midfacial hypoplasia with a characteristic saddle nose, prominent frontal bossing, and everted lips, as illustrated in Figure 1.

Intraoral examination showed dry buccal and labial mucosa. The gingiva displayed generalized moderate marginal gingivitis induced by dental biofilm, with physiologic pigmentation noted (11). The tongue, floor of the mouth, soft and hard palate, and oropharynx appeared normal. Examination of the dentition revealed the patient was in the early mixed dentition stage. There was occlusal caries on the posterior teeth, along with oligodontia affecting both primary and permanent dentitions. The existing teeth were conical or peg-shaped and exhibited microdontia. Additional findings included impacted teeth, reduced or absent salivary flow, deficient alveolar bone development, taurodontism, and a loss of vertical dimension of occlusion, as shown in Figures 2 and 3.

Treatment commenced with the behavior management phase. The patient’s behavior was assessed using the Frankl Behavior Rating Scale, where he received a score of 3 (positive), and his personality was described as friendly. According to Wright’s classification, the patient was considered potentially cooperative but slightly tense, with a tolerance span of 30 to 45 minutes. Behavior management techniques used included Tell-Show-Do, positive reinforcement, and reward-based strategies (12).

The preventive phase followed, consisting of oral hygiene instruction, oral prophylaxis, topical fluoride application, and dietary counseling to address the patient’s high risk of caries and maintain oral health.

The restorative phase was carried out under local anesthesia, as illustrated in Figures 4 and 5. In the maxillary arch, conservative adhesive restorations were placed on the posterior teeth. Intentional pulpotomies were performed on the lateral incisors to facilitate prosthetic rehabilitation, as these teeth were unusually large and insufficient space was available to accommodate artificial replacements. The lateral incisors were then prepared to receive metal copings. A Groper’s appliance was fabricated to replace the missing maxillary anterior teeth. Due to the conical shape of the patient’s teeth, prefabricated bands did not fit properly; thus, the closest available sizes were selected and customized using How pliers and crimping pliers to ensure a proper fit. Future options for replacing the missing maxillary anterior teeth may include a removable partial denture or implant-supported crowns or dentures, depending on the patient’s craniofacial growth and development.

In the mandibular arch, an overdenture was planned due to the conical shape of the lower canines and lack of undercuts, which made a conventional removable denture unsuitable. Intentional pulpotomies were also performed on the lower canines, followed by preparation for metal copings. The use of an overdenture in this case allowed for better distribution of occlusal forces throughout the arch, enhancing stability and function. Future mandibular prosthetic options may include implant-supported overdentures, conventional complete dentures, or continued use of tooth-supported overdentures, depending on the patient’s future growth and long-term oral health. Figures 6 and 7 compare the clinical condition before and after treatment, demonstrating the treatment's impact

The recall and maintenance phase involved scheduling radiographs every six months and recall visits every three months due to the patient’s high caries risk. Prosthetic relining and adjustments are planned as the patient grows, with a full prosthesis remake anticipated after significant growth of the maxilla and mandible. These recall visits serve to monitor treatment outcomes, evaluate prosthetic performance, assess caries activity, monitor the eruption of impacted teeth, perform prophylaxis and topical fluoride applications, and reinforce oral hygiene and dietary habits.

Figure 1: Frontal and lateral pre-operative photos of the patient. The patient exhibits sparse, dry, and lightly pigmented hair, with absent eyelashes and eyebrows, as well as dry, hypopigmented skin. Additional features include reduced sweating, midfacial hypoplasia characterized by a saddle nose, prominent frontal bossing, and everted lips.

The procedure was completed successfully without complications. At the 3 and 6 month follow-up appointments, no abnormalities or treatment failures were noted. Psychologically, the patient demonstrated noticeable improvement, with enhanced esthetics, speech, and oral function.

Figure 2: Pre-Operative Records – A) Shown are the occlusal view of the upper arch, B) right lateral view, C) frontal view, D) occlusal view of the lower arch, and E) left lateral view. This figure presents the clinical documentation and diagnostic images collected before the initiation of treatment. These intraoral records serve as a baseline for treatment planning and for evaluating post-treatment outcomes.

Figure 3: Panoramic radiograph obtained according to the American Academy of Pediatric Dentistry Guidelines for Prescribing Dental Radiographs (13) for a new patient in the mixed dentition stage. The patient has a straight nasal septum and normal nasal passages; her maxillary sinuses are intact, right & left condyles are symmetrical, the inferior border of the mandible is intact, the bone trabeculations are normal, and he has oligodontia, impacted teeth, malformed teeth (conical/peg-shaped), taurodontism and lack of alveolar bone growth, especially on the lower arch.

Figure 4: Treatment Procedures. A, B) illustrate the intentional pulpotomy followed by tooth preparation done in the upper and lower arches. C, D) Cementation of metal copings.

Figure 5: Tray In. A, B) illustrate intra-oral try-in for the upper arch and the lower arch. C) Extra-oral tray-in.

Figure 6: Pre- and Post-Operative Records. A, B) Pre-operative records from occlusal views; C, D) post-operative records of the upper and lower arches from occlusal views. This figure compares the clinical condition before and after treatment.

Figure 7: Pre- and Post-Operative Records. A, B) Extraoral photographs; C, D) intraoral photographs from the frontal view, comparing the clinical condition before and after treatment.

Discussion

Managing dental care for patients with ectodermal dysplasia (ED) demands a coordinated, interdisciplinary approach, with the dental team playing a pivotal role in preserving oral health and restoring function and esthetics. The clinician must consider the patient’s developmental, behavioral, and emotional needs while planning long-term dental care. As Nowak emphasized, successful management of pediatric ED patients involves not only prosthetic and restorative skills but also a deep understanding of child development and behavior management strategies (12). Early dental intervention is essential; the first dental visit is recommended as soon as the first tooth erupts to establish a “dental home” and initiate preventive and restorative planning (14). Prosthetic rehabilitation is ideally started before school age—typically around 3 to 4 years—to support proper jaw development, oral function, and psychosocial adaptation (15). Schnabl et al. reported that the median age for initiating prosthetic treatment in children with ED is 4 years, underscoring the importance of timely care (16). Starting early helps mitigate functional impairments, prevents loss of vertical dimension, and may reduce the risk of developing class III malocclusion patterns due to alveolar resorption and skeletal underdevelopment (17). However, in our case, treatment began at the age of 8, considerably later than the typical window for early intervention. This delay was due to late presentation rather than lack of indication, and it underscores the importance of increased awareness and early diagnosis of ED among primary healthcare providers and parents.

The oral findings in our patient are consistent with those described in other published case reports. A case by Shigli and Agrawal presented a 7-year-old boy with HED who exhibited similar features, including sparse scalp hair, dry skin, frontal bossing, saddle nose, and oligodontia affecting both primary and permanent dentitions (17). Intraorally, they noted the presence of peg-shaped teeth and underdeveloped alveolar ridges, conditions that significantly complicated prosthetic planning. Similarly, Figueiredo et al. reported a case of a 9-year-old boy with hypohidrotic ED who showed dry oral mucosa, conical teeth, and reduced vertical dimension due to missing posterior occlusion—all of which mirrored our patient’s presentation (18). In both cases, prosthetic rehabilitation with removable partial dentures improved not only mastication and phonetics but also self-esteem and social integration. These findings align with the outcome observed in our patient, who showed noticeable psychological improvement and restored function following prosthetic intervention.

In terms of prosthetic options, removable dentures remain the most commonly used solution in pediatric patients with ED due to their adaptability and ease of fabrication. However, as in our case, clinicians often face challenges such as poor retention and stability due to underdeveloped ridges and hyposalivation. These difficulties necessitate periodic relining, rebasing, or complete replacement of the prosthesis as the child grows and the jaw matures (18). When residual teeth are available, overdentures provide improved retention and can help preserve alveolar bone. Van Wass et al. reported reduced alveolar resorption in patients wearing overdentures over two years, reinforcing their long-term functional benefits (19). In our case, overdentures were not considered due to the extent of missing teeth and limited abutment support. Fixed prosthetic options have also been explored in pediatric patients, particularly when esthetics and retention are major concerns. Ou-Yang et al. treated twin girls aged 3 years with stainless steel band-supported fixed partial dentures to replace multiple missing teeth (20). The prosthesis improved lip support and vertical dimension and was well tolerated by the patients. Monthly removal and biennial relining allowed adaptation to growth while maintaining hygiene and function. Although fixed options offer better esthetics and durability, their use in growing children remains controversial, especially if they cross the midline or restrict natural growth. Rigid FPDs may interfere with maxillary transverse growth, while the anterior mandible shows minimal lateral growth beyond age 3 (19). Therefore, fixed appliances may be considered in the mandible under specific conditions, but clinicians must carefully weigh benefits against risks.

Overall, the dental management of pediatric ED patients, as demonstrated in our case, requires individualized planning and long-term follow-up. Prosthetic rehabilitation not only restores essential oral functions but also significantly enhances the quality of life. Although our patient presented later than ideal, the prosthetic solution was tailored to his needs, accounting for growth, esthetic expectations, and psychological well-being. This case reinforces the value of early referral, patient-specific treatment strategies, and ongoing care to support favorable outcomes in children affected by ectodermal dysplasia.

The use of dental implants in pediatric patients is becoming increasingly common, particularly in the anterior mandible, since the mandibular intercanine width stabilizes at an early age. This stability allows for implant placement without adversely affecting jaw growth. The National Foundation for Ectodermal Dysplasias recommends placing dental implants in the anterior mandible for children aged 7 years and older (20). In contrast, transverse growth of the maxilla continues until approximately 17 years of age in boys, when the midpalatine suture fuses, making maxillary implant placement unsuitable in younger patients (20). Implant placement in growing patients carries risks such as interference with normal growth, implant submergence, or ankylosis. Additionally, implant therapy in patients with ectodermal dysplasia (ED) presents challenges due to poor bone quality, limited bone volume, and the need for ongoing prosthetic adjustments. Consequently, Cronin et al. recommend initiating implant treatment after 15 years of age for girls and after 18 years for boys to optimize long-term outcomes and minimize complications (17). Regular dental follow-up appointments are essential for patients with ectodermal dysplasia (ED) to monitor their growth and development, allowing timely adjustments or replacement of prostheses as needed. Vergo recommends relining or rebasing intraoral prostheses in growing patients every 2 to 4 years, with complete remakes of the prosthesis every 4 to 6 years (15). Maintaining good oral hygiene is crucial and should include the use of fluoridated toothpaste twice daily, along with cleaning around artificial teeth using a microbrush or superfloss. Additionally, application of topical fluoride varnish in the dental clinic is advised to help protect the oral tissues and prostheses.

Conclusion

Managing dental care for patients with ectodermal dysplasia requires an early, multidisciplinary approach focused on restoring function, aesthetics, and quality of life. Timely diagnosis and intervention improve outcomes, especially when prosthetic rehabilitation begins before school age. Treatment must be tailored to the patient’s growth, oral anatomy, and psychosocial needs. Options like overdentures and conservative restorations can support normal development, while implants may be considered later. Regular follow-ups and meticulous oral hygiene are essential for long-term success.

Acknowledgments

The authors would like to thank and acknowledge the Department of Pediatric Dentistry and Prosthodontics Department, North Jeddah Specialized Dental Center, Jeddah, Saudi Arabia.

Disclosure Statement

All authors have declared that no financial support was received from any organization for the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Funding

All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work.

Ethical Consideration

Consent for treatment and open access publication was obtained by parents in this case.

Data Availability

All the data is presented within the paper.

Author Contribution

Ahmed N. Alsharif, Osamah A. Basudan, Sahar K. Alhajrassi, and Emad A. Albadawi contributed to conceptualizing and data drafting. Ahmed N. Alsharif was responsible for drafting the manuscript.