Abstract

Ectodermal dysplasias (ED) comprise a group of rare genetic disorders affecting ectodermal- derived tissues, including hair, teeth, nails, and sweat glands. These conditions result in significant functional and aesthetic impairments, greatly impacting patients’ quality of life. Among the rare forms, Papillon-Lefèvre Syndrome (PLS) and the most common form, Christ- Siemens-Touraine Syndrome (CST), present specific clinical challenges such as early tooth loss due to aggressive periodontitis or structural anomalies. This article highlights the multidisciplinary prosthetic management of two clinical cases. The first case involves an adolescent with PLS who underwent complete tooth extractions followed by conventional prosthetic rehabilitation. The second case focuses on a patient with CST, treated with partial removable prostheses tailored to their young age and developmental stage. These interventions aim to restore oral functions, enhance aesthetics, and improve the psychological well-being of the patients. ED presents challenges related to bone and dental anomalies, emphasizing the importance of early and multidisciplinary care. This approach focuses on preventing complications and maintaining an optimal quality of life. For growing patients, transitional prosthetic solutions are preferred, while implant-supported treatments are reserved for individuals who have completed skeletal development. An appropriate dental rehabilitation is critical to mitigating the functional and aesthetic disabilities caused by these conditions. Regular follow-up from the time of diagnosis is essential to ensure optimal treatment outcomes and address the psychosocial needs of the patients.

1. Introduction

Ectodermal dysplasias (ED) constitute a heterogeneous group of rare genetic disorders characterized by developmental anomalies in ectodermal-derived tissues, including hair, teeth, nails, and sweat glands. ¹ These conditions result in significant functional and aesthetic impairments, profoundly impacting the quality of life of affected individuals. Prosthetic management of these patients, often presenting with hypodontia or anodontia associated with altered maxillofacial bone structures, poses a major clinical challenge. ²

Among the rarest forms of ED, affecting approximately 1 in 4,000,000 births, Papillon- Lefèvre Syndrome (PLS) is distinguished by the combination of dermatological lesions (palmoplantar keratoderma) and severe oral manifestations, including premature tooth loss due to aggressive periodontitis. ³ On the other hand, Christ-Siemens-Touraine Syndrome (CST), the classic form of hypohidrotic ectodermal dysplasia, is characterized by marked anodontia or hypodontia, accompanied by hypohidrosis and hypotrichosis. ⁴

This article aims to present two clinical cases illustrating the multidisciplinary prosthetic management of patients affected by these syndromes. The first case concerns a patient with Papillon-Lefèvre Syndrome, while the second focuses on the prosthetic rehabilitation of a patient with Christ-Siemens-Touraine Syndrome. Through these examples, we discuss the clinical and technical approaches implemented to restore oral functions and enhance the quality of life of these patients, taking into account the specific challenges posed by these rare conditions.

2. Case Report 1

A 17-year-old patient diagnosed with Papillon-Lefèvre Syndrome presented to the Removable Prosthodontics Department at the CCTD in Casablanca seeking prosthetic management.

The family history revealed consanguineous marriage, and the patient’s 3-year-old brother also exhibited clinical signs consistent with the same syndrome.

Intraoral examination revealed bilateral maxillary and mandibular partially edentulous areas, along with generalized gingival inflammation affecting the remaining teeth. Severe tooth mobility was observed, accompanied by purulent and bleeding periodontal pockets upon probing.

The radiological examination revealed the presence of generalized terminal angular bone loss.

The clinical management of this case involved the extraction of all teeth, followed by a prescription of antibiotics due to the poor prognosis of the remaining dentition. This treatment was conducted in collaboration with the periodontology department to emphasize multidisciplinary care. Subsequently, a conventional prosthetic rehabilitation for the fully edentulous maxilla and mandible was performed using a structured and methodical approach aimed at restoring masticatory, phonetic, and aesthetic functions while ensuring optimal patient comfort.

The main clinical steps were as follows:

Primary mucostatic impressions were taken using dental plaster to obtain working models, facilitating the fabrication of individual impression trays (IIT).

Fabrication of secondary anatomic-functional impressions using precision impression materials and individual impression trays (IIT). These impressions accurately capture the mucosal surfaces and adjacent structures necessary for the support and retention of the prosthesis.

Recording the intermaxillary relationships to determine the vertical dimension and centric relation between the jaws involves the use of occlusion rims and wax bites. Artificial teeth are arranged on a wax base, adhering to functional (occlusion, guidance) and aesthetic criteria. The choice of prosthetic teeth was made in consultation with the patient to achieve the desired aesthetic result, especially given the patient's young age. This setup is then tried in the patient's mouth for validation.

Placement of the definitive prosthesis: the completed prosthesis is inserted into the mouth.

Follow-up and maintenance: regular check-up appointments are scheduled for potential occlusal equilibration and to ensure optimal oral-prosthetic hygiene.

The psychological support for this young patient facing total edentulism is essential to alleviate the emotional shock and facilitate the acceptance of this transition. It is crucial to work in a climate of trust, actively listen to the patient's concerns, and address their questions with empathy and education. Providing a clear explanation of the treatment steps, prosthetic alternatives, and long-term benefits also helps reduce anxiety.

3. Clinical Case 2

A 14-year-old patient diagnosed with Christ-Siemens-Touraine Syndrome was referred to the Prosthetic Department of CCTD Casablanca for prosthetic rehabilitation.

The intraoral examination reveals embedded edentulism in both the maxillary and mandibular arches, with the presence of two prominent maxillary canines in protrusion. The 55, 84, and 85 are still present in the arch but exhibit grade 3 mobility according to Miller's classification.

The panoramic X-ray shows extensive root resorption on 55, 84, 85.

Therapeutic solution:

-Extraction of 55, 84, 85.

-Lateralization of maxillary canines.

- Removable partial resin prostheses, designed for both arches, offer a suitable transitional solution. They support the development and growth of the patient's dental arches, taking into account their young age.

4. Discussion

The Papillon-Lefèvre Syndrome (PLS) is characterized by dermatological and oral manifestations. However, the presence and severity of dermatological signs, particularly palmoplantar keratoderma, vary among patients ⁵. In some cases, the pathological diagnosis may be based solely on clinical and radiological periodontal examination ⁶. The development of periodontal signs in patients with PLS may be associated with the presence of periodontal pathogens such as Aggregatibacter actinomycetemcomitans ⁷, which is strongly linked to a destructive inflammatory response ⁸. The eradication of this bacterium should be achieved through the systemic use of antibiotics ⁹. PLS results from a mutation in the gene encoding cathepsin C, a protein essential for the establishment and maintenance of the epithelial integrity of extremities (palms and soles) and the immunological properties of the tissues supporting the teeth ¹⁰. The inheritance follows an autosomal recessive pattern, and a high incidence has been observed among individuals from consanguineous marriages. This is the case for our patient, where the parents are first-degree cousins. His 3-year-old brother also presents symptoms of Papillon-Lefèvre, including palmoplantar keratoderma and severe periodontitis. The disease becomes apparent around the age of 2 to 3 years, with oral manifestations affecting the primary teeth, accompanied by periodontal involvement leading to premature exfoliation. Upon eruption of the permanent dentition, the same process occurs, resulting in early tooth loss.

The management of Papillon-Lefèvre Syndrome (PLS) presents a significant challenge for the dentist due to its generally poor prognosis and the uncertain progression of the disease.

Before the 1980s, tooth loss was seen as an inevitable outcome of PLS. However, the advent of modern techniques for detecting periodontal pathogens has underscored the importance of early intervention, which is now essential for preserving permanent teeth in young patients ¹⁰.

Conventional complete dentures or overdentures are the usual prosthetic treatments for patients with PLS. However, these solutions may lead to aesthetic and functional problems, prompting patients to seek alternative therapeutic options. The main concerns include insufficient stability and retention of mandibular prostheses. Dental implants can provide the necessary support, stability, and retention, while preserving supporting bone and preventing its resorption. However, the lack of available bone due to aggressive periodontitis remains a major obstacle. Consequently, treatment plans based on implants are generally limited to overdentures unless complex bone augmentation procedures can be performed before the surgical intervention ¹¹.

Hypohidrotic ectodermal dysplasia, also known as anhidrotic ectodermal dysplasia or Christ- Siemens-Touraine disease, is a rare genetic condition affecting approximately 1 in 100,000 live births. It results from a disorder in the development of ectodermal tissues and is inherited in an X-linked recessive pattern. This condition, part of the genodermatoses, is characterized by abnormalities of structures derived from the ectoderm, including the absence or reduction of sweat glands (anhidrosis), insufficient and sparse hair (hypotrichosis), and a decrease in the number of teeth (hypodontia) or complete absence (anodontia) ⁴.

Currently, no curative or causal treatment is available, so management is limited to symptomatic treatment ³, primarily focused on preventing hyperthermia in infants and children. Subsequent therapeutic follow-up is multidisciplinary to address the various associated disorders. Regarding dental care, early intervention is recommended, typically beginning around the age of 3 years ^{12, 13, 14}.

Dental rehabilitation using removable or fixed prostheses helps restore function and aesthetics, contributing to the physical and psychoaffective development of the child. Depending on the patient's age and developmental stage, different types of prostheses (fixed, removable, or implant-supported) may be considered for dental rehabilitation. However, difficulties may arise with fixed prostheses due to an insufficient number of abutments, large pulp chambers, and short clinical crowns, which reduce retention. As a result, most young patients benefit from dental rehabilitation with removable prostheses. Implant-supported rehabilitation is primarily reserved for patients who have completed their growth, typically around 15–16 years of age for girls and 17–18 years for boys. The decision to place implants depends more on the evaluation of dental and skeletal maturity than on chronological age ¹².

Many authors agree on either partial or complete removable prosthesis as the ideal initial prosthesis in children. However, as the child continue to growth, prosthetic rehabilitation can call on more innovative techniques in adulthood including joint prosthesis or implants. ⁴

5. Conclusion

Ectodermal dysplasias, although rare, pose a multidimensional challenge for clinicians due to their significant impact on the functional, aesthetic, and psychosocial aspects of patients' lives. The cases presented in this article highlight the importance of a multidisciplinary and personalized approach to addressing the specific needs of patients affected by these complex pathologies.

Early intervention, combined with rigorous and continuous monitoring, is essential to prevent complications, optimize clinical outcomes, and maintain a satisfactory quality of life. These efforts underscore the critical role of interdisciplinary collaboration among dentists, prosthodontists, geneticists, and other specialists in providing comprehensive care tailored to patients with ectodermal dysplasias..

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