ABSTRACT
Ectodermal dysplasia (ED) is a rare inherited disorder affecting the structures originating from ectoderm. The hypohydrotic variant is the most common form of ED transmitted through an X-linked recessive trait. This condition manifests as sparse hair, hypodontia of primary and permanent dentitions, improper maxillo-mandibular relationship, reduction in the vertical dimension of the lower face, disappearance of the vermillion border, and prominent lips. Such manifestations devastate the patient’s aesthetic and function, thus affecting their psychology and quality of life (QoL). This case report discusses the management of a 20-year-old male with ED. The Patient was rehabilitated using upper and lower dentures, restoring the vertical dimension of the face and improving aesthetics and the functioning of the stomatognathic system.
[Keywords: Ectodermal dysplasia, hypodontia, prosthodontic rehabilitation, prosthetic treatment, prosthodontics]
Introduction
Ectodermal dysplasia (ED) is a hereditary disorder associated with malformation secondary to errors in signaling transmission, affecting ectoderm coding. Various genetic patterns have been proposed for its transmission, such as autosomal recessive, autosomal dominant, and X-linked.1 Freire-Maia defined ED as the syndrome that exhibits at least two characteristics: i.e. trichodysplasia, onchodysplasia, and dyshidrosis. Till date, more than 150 variants of ED have been reported in the literature.2 Thurnam published the first report of a patient with ectodermal dysplasia in 1848; then, Darwin also reported a case of ED in 1875. However, Weech coined the term ectodermal dysplasia in 1929.3
Hypohydrotic/ Anhydrotic ED, also referred to as Christ-Siemens-Touraine syndrome, is an X-linked recessive genetic disorder.3This medical condition predominantly affects males, while females act as carriers. Studies have suggested that the prevalence of ED in men is 1:100,000 live births, whereas carriers have an incidence of around 17:100,000 women.4 Diagnosis of ED is usually based on clinical signs and symptoms, along with maxillofacial radiographic findings. Various genetic tests are available for assessment and diagnosis of subtypes of ED.5 Patients with ED often have disfigured facial appearance, which has a definitive impact on their appearance, particularly regarding their facial profile and missing/ malformation of teeth.6 Studies have also highlighted that ED tends to have devastating emotional effects on the patient.7,8 Thus, it is essential to have a time bond rehabilitation approach for these patients to improve their quality of life (QoL).
Comprehensive management of ED requires a multidisciplinary approach involving a team of oral health care providers such as oral surgeons, prosthodontists, orthodontists, pedodontists, and periodontists. Experience has suggested that prosthetic rehabilitation is the most effective treatment option, enhancing the aesthetics and function of the patients. Through this case report, we would like to highlight the details of the prosthetic rehabilitation of a 20-year-old male patient with hypohidrosis ectodermal dysplasia with partial anodontia. The treatment options were discussed with the oral health care providers, the Patient, and his family. After a fruitful discussion with all the stakeholders, partial dentures for maxillary and mandibular arches were finalized.
Case History/ Examination
A 20-year-old male patient was referred to the Department of Prosthodontics complaining of an unpleasant facial appearance and multiple missing teeth in the upper and lower jaws, leading to difficulties in chewing food. His father accompanied him during the prosthodontic consultation. There was no history of parents’ consanguineous marriage. The Patient’s family history revealed a non-conclusive finding for a similar condition. No other sibling had identical clinical features associated with ED. None of the family members was involved similarly in previous generations.