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.