Prosthetic Rehabilitation of a Three-year-old Child with Ectodermal Dysplasia: A Case Report

1. 3rd Year Postgraduate Student, Department of Paediatric and Preventive Dentistry, Kalinga Institute of Dental Sciences, KIIT University, Bhubaneswar, Odisha, India. 2. Professor and Head, Department of Paediatric and Preventive Dentistry, Kalinga Institute of Dental Sciences, KIIT University, Bhubaneswar, Odisha, India. 3. Professor, Department of Oral Medicine and Radiology, Kalinga Institute of Dental Sciences, KIIT University, Bhubaneswar, Odisha, India. 4. Senior Resident, Department of Dentistry, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India.

Abstract

Ectodermal Dysplasia (ED) is a rare congenital syndrome that exhibits defects in two or more ectodermal tissues. Dental manifestations include delayed eruption of permanent dentition, complete absence of teeth or absence of a few teeth, and peg-shaped teeth. This condition is typically diagnosed by a dentist when parents bring their child with complaints of absent/delayed eruption of primary teeth. Hypohidrotic ED with true anodontia is an extremely rare condition, particularly in females. Over the past 50 years, only 11 cases have been reported involving anodontia of primary and permanent dentition in ED. The current report describes a case of a three-year-old female child diagnosed with hypohidrotic ED with anodontia, successfully treated by fabricating complete dentures with proper retention to restore function and aesthetics.

Anodontia, Complete dentures, Skin diseases

Case Report

A three-year-old female child, accompanied by her mother, presented with complaints of delayed eruption of primary teeth and difficulty in chewing food. The facial features observed included low-set ears, frontal bone bossing, a depressed nose resembling a saddle, sunken cheeks, and thick everted lips. The child had sparse hair, scanty eyebrows, dry skin, and no nail dystrophy was noted (Table/Fig 1). The facial profile appeared concave with reduced lower facial height. The mother reported that the child experienced recurrent episodes of high fever without an identifiable cause and had intolerance to heat. Both parents had no history of similar medical issues, and there was no consanguineous marriage in the family. Intraoral examination revealed an edentulous mouth with thin atrophic mucosa, reduced ridge height, and shallow palate, along with decreased salivation. Radiographic examination Orthopantomagram (OPG) showed the congenital absence of a complete set of teeth/tooth buds and aplasia of the alveolar processes (Table/Fig 1)a-d.

Genetic testing was recommended, but due to financial constraints, the patient was unable to undergo the test. Based on the history, clinical presentation, and radiographic findings, the case was diagnosed as a hypohidrotic variant of ED.

Parental consent was obtained after a detailed explanation of the procedure.

Management of ED began with counselling for the parents, addressing both the psychological aspects and future prospects considering the child’s age and gender identity. The treatment plan involved the fabrication of complete dentures to restore function and aesthetics.

Given the child’s young age, impression materials with unpleasant taste, odour, or long setting times, such as those based on polysulfide or polyether, were avoided (1). Instead, primary impressions were taken using alginate impression material, known for being tasteless, easy to use, and quick-setting.

Sharry’s JJ spacer design was utilised for the maxillary and mandibular arches. Secondary impressions were captured using special trays with putty and light body impression material following the selective pressure technique (Table/Fig 2)a-f.

Vertical jaw relation was recorded, and casts were mounted on a simple hinge articulator (Table/Fig 3)a-e. To create a pleasing smile, the height and shape of the maxillary occlusion rim were adjusted to provide the necessary support for the maxillary lip to achieve a good aesthetic effect. Given the patient’s age, the prospective occlusal line was arbitrarily determined to be parallel with the Camper plane.

Primary teeth were fabricated in a rubber mold using composite resin (A1 shade) and a light-curing unit (Table/Fig 4)a-d. Due to the frequent need for repairing and replacing dentures in patients with ED as they grow, composite resin was chosen. It is crucial during denture fabrication for these patients to evenly distribute the occlusal load, which can be achieved by maximising denture base coverage. Therefore, balanced occlusion was employed in present patient for this purpose.

After trimming and polishing, the dentures were delivered to the patient (Table/Fig 4)a-d. This genetic condition often leads to dry mouth, underdeveloped alveolar ridges, and maxillary tuberosities, which can make it challenging for dentures to stay securely in place and function effectively.

Retention, stability, and occlusion were checked, and postinsertion instructions were provided to the parents. The patient was followed-up after two weeks and then again after three months to assess the functional efficiency of the dentures. The patient expressed high satisfaction with her dentures (Table/Fig 5)a,b. Regular follow-up appointments every six months were planned for adjustments and replacements of the old denture.

Discussion

Ectodermal Dysplasia (ED) is a rare non progressive, congenital syndrome that demonstrates primary developmental defects in two or more ectodermal tissues (2). It encompasses a diverse and heterogeneous group of disorders that include various findings affecting the skin, nails, hair, teeth, and sweat glands (2). Clinically, the two most common phenotypes of ED are observed: hypohidrotic ED (Christ-Siemens-Touraine syndrome) and hidrotic ED, with or without involvement of sweat glands (3).

Dental manifestations seen in both phenotypes include hypodontia or anodontia, delayed eruption, peg-shaped anterior teeth, and an underdeveloped alveolar ridge with a knife-edge morphology (3). Linear wrinkled pigmented skin is observed around the eyes and nose (4).

The international incidence of ED is approximately seven in 10,000 live births, and the earliest documentation of this condition was made by Charles Darwin in 1840 (2),(5). The hypohidrotic variant of ED is the most commonly encountered form among this group of hereditary disorders (5). This condition is typically diagnosed by a dentist when parents bring their child with complaints of absent/delayed eruption of primary teeth. Early prenatal identification is achieved through the detection of gene mutations followed by sonography and foetal skin biopsy during the second trimester of pregnancy, as well as prenatal ultrasound. Antenatal diagnosis of ED is usually made during the first 3-4 years of life based on the history of intermittent hyperpyrexia and clinical manifestations. Reduced sweating can lead to a mortality rate of 30% due to pulmonary infections. However, after this age, life expectancy is typically normal (2).

The Hypohidrotic variant of Ectodermal Dysplasia (HED) can be transmitted as an autosomal dominant, autosomal recessive, or X-linked recessive trait (4). Gorlin RJ et al., stated that in most cases of affected females with unaffected parents, an autosomal recessive mode of inheritance is observed, which supports our case (6),(7).

The HED with anodontia is an extremely rare condition, especially in females (8). The incidence of female carriers is estimated to be around 17.3 in 100,000 women (9). Over the last 50 years, only 11 cases of anodontia of primary and permanent dentition in ED have been reported. Out of these cases, only four were females, as reported by Gorlin RJ et al., in 1970 (4 years 9 months), Nomura S et al., in 1993 (6 years 1 month), Franchi L et al., in 1998 (4 years 2 months), and Ohno K et al., in 1999 (5 years). The present case of ED is the youngest child reported so far at 3 years of age and was successfully treated (6),(8),(10),(11).

Pigno MA et al., recommended that dental prosthesis should be fabricated and used before the child reaches school age, around 3-4 years old (12). This recommendation is supported by a systematic review by Schnabl D et al., and Kupietzky A and Houpt M (13),(14). According to Vergo TJ Jr, relining and rebasing in growing patients should be done every 2-4 years, and the denture should be remade every 4-6 years (15). Growing children with complete dentures require frequent adjustments and replacements, especially when a reduced vertical dimension of occlusion and an abnormal mandibular posture are present (16).

Eventually, the patient’s removable prosthesis may be replaced by a fixed-type prosthesis using Osseointegrated implants (8). According to the National Foundation for Ectodermal Dysplasia (NFED), implant placement in the anterior mandible is feasible for children aged seven years and older, and for the maxilla in individuals older than 17 years (17). The limitations of placing implants in younger children include growth cessation, ankyloses, compromised bone quality, and the need for continuous adjustments of the prosthesis (18). A review of previous case reports can be found in (Table/Fig 6) (19),(20),(21),(22),(23),(24).

Conclusion

The key to successfully managing a child with Ectodermal Dysplasia (ED) is early diagnosis and prosthetic rehabilitation, achieved by making them familiar with the hospital environment and creating a rapport with them. As paediatric dentists, authors were skilled in managing children’s behaviour and child psychology, enabling us to successfully treat a three-year-old with multiple appointments.

DOI and Others

DOI: 10.7860/JCDR/2024/70613.19793

Date of Submission: Mar 12, 2024
Date of Peer Review: Apr 10, 2024
Date of Acceptance: Jun 27, 2024
Date of Publishing: Aug 01, 2024

AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes

PLAGIARISM CHECKING METHODS:
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ETYMOLOGY: Author Origin

EMENDATIONS: 6