JDC CASE REPORT

Oral Rehabilitation of a Child with Hypohidrotic

Ectodermal Dysplasia

Carolina Paes Torres, DDS, PhD 1

Andrea Candido dos Reis, DDS, PhD 2
Alexandra Mussolino Queiroz, DDS, PhD 3
Maria Bernadete Stuani, DDS, PhD 4
Paola Mira, DDS, MSc 5
Paulo Sérgio Ferreira 6
Jaciara Miranda Gomes-Silva, DDS, PhD 7
Ester Silveira Ramos, MD, PhD 8
Jair Huber, MD, PhD 9
Maria Cristina Borsatto, DDS, PhD 10

ABSTRACT
Hypohidrotic ectodermal dysplasia (HED) is a genetic condition characterized by
abnormal development of two or more structures of the ectoderm, such as skin, hair,
nails, teeth, or sweat glands. The most common dental anomalies are oligodontia and
anodontia but taurodontism has also been described. These patients present a decrease
of alveolar bone volume and alveolar ridge tapering due to congenitally missing teeth.
The purpose of this report is to describe the case of a six-year-old girl diagnosed with
HED who presented with conical teeth, taurodontic molars, and multiple agenesis
that decreased the patient’s self-esteem and social interactions. The proposed treatment
was to accomplish an oral rehabilitation that was functional, provided the patient
with the ability for correct mastication, good esthetics, and comfort, using restorations
and devices that did not interfere with the child’s orofacial growth and development.
(J Dent Child 2019;86(3):158-63)
Received April 17, 2019; Last Revision June 5, 2019; Accepted June 5, 2019.
Keywords: hypohidrotic ectodermal dysplasia, dental anomalies,
pediatric dentistry

Drs. 1Torres and 7Gomes-Silva are PhD candidates and staff dentists, 3Drs.
Queiroz and 4Stuani are associate professors, 10Dr. Borsatto is a professor;
and 5Dr. Mira is a Master’s degree candidate, all in the Department of
Pediatric Dentistry; and 2Dr. Reis is an associate professor, Department of
Dental Materials, all in the School of Dentistry; 9Dr. Huber is an attending
physician, Clinical Hospital, and 8Dr. Ramos is a professor, Department of
Genetics, both in the School of Medicine, all at the University of São Paulo,
6
Mr. Ferreira is a dental student, School of Dentistry, University of Ribeirão
Preto, all in Ribeirão Preto, São Paulo, Brazil.
Correspond with Dr. Torres at caroltorres@forp.usp.br
H
ypohidrotic ectodermal dysplasia (HED) is a
genetic condition characterized by develop-
mental disorders of two or more ectoderm
structures, such as skin, hair, nails, teeth, and sweat
glands.1-3 Affected genes are EDA, EDAR, EDARADD
and WNT10A in more than 90 percent of cases.4,5 The
inheritance pattern of the WNT10A is still unknown,
but important dental anomalies were described in

158 Torres et al. Oral rehabilitation in ectodermal dysplasia Journal of Dentistry for Children-86:3, 2019
heterozygous boys with WNT10A mutations, suggesting We present the case of a pediatric patient with HED
that this gene was affected.5 for whom esthetic and rehabilitative procedures were
The classical clinical features of HED are sparse hair performed in order to improve her quality of life.
(hypotrichosis), tooth abnormalities (most commonly
oligontia and anodontia) and alterations in the sweat
glands (hypohidrosis).3-6 Dahmo et al.7 analyzed the fre- CASE REPORT
quency of congenitally missing permanent teeth in A six-year-old girl with HED was referred for dental care
patients with HED. Mandibular central incisors, second by the physicians of the Medical Genetics service at the
premolars, second molars and lateral incisors were the University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
most frequently absent. Maxillary first molars and Her mother reported no problems during pregnancy. She
mandibular canines were the least absent. Incisors and had a Cesarean section at 38 weeks of gestation and
canines generally have a conical shape, whereas second breastfed the patient for 10 months. The patient’s medical
molars are affected by taurodontism.8,9 history was unremarkable and her family history revealed
Other craniofacial manifestations include prominent no problems related to HED.
forehead, depressed nasal bridge, absent eyebrows, de- A clinical examination showed a prominent forehead,
creased salivary secretion, retrusive maxilla, protuberant saddle nasal bridge, thin eyelids, dry skin, hypotrichosis
mandible, and decreased vertical dimension.6,9,10 The (short blond hair and narrow eyebrows and eyelashes),
multiple missing and malformed teeth lead to alterations and prominent lips (Figure 1). An intraoral examination
of the maxilla and mandible, and interfere with masti- showed low alveolar ridges and the presence of dental
catory function, leading to a decrease in alveolar bone
volume and alveolar crest.11
Early rehabilitation is important for esthetic reasons
and functionality. Physicians play a fundamental role
in the early referral of these patients to the pediatric
dentist. A team approach with several specialists, such
as a pediatric dentist, orthodontist, and prosthodontist,
is essential to ensure treatment success.
In children, additional care should be taken so that
the prosthetic and orthodontic appliances used in the
rehabilitation do not interfere with the maxillary and
mandibular growth pattern,8,9 thus removable appliances
should be used. However, a major challenge is the re-
tention of prostheses in the lower ridge, which tends to
be sharp and shallow, leading to poor prosthesis reten-
tion and potential discomfort for the patient. Children
can experience great distress during dental impressions
because of a heightened gag reflex. In an attempt to
minimize this discomfort, the stimulation of specific
acupuncture points to control the nausea and gag reflex
Figure 1. Physical findings: prominent forehead, saddle
using low-power laser therapy has become a great help nasal bridge, thin eyelids, dry skin, hypotrichosis (short
for patients.12 blond hair and narrow eyebrows and eyelashes), and
prominent lips.

Figure 2. Intraoral examination: low alveolar ridges and the presence of anomalies in shape and number of teeth.

Journal of Dentistry for Children-86:3, 2019 Oral rehabilitation in ectodermal dysplasia Torres et al. 159
anomalies of shape and number (Figure 2). The primary
maxillary central incisors were conical originally and
the patient had permanent first molars, primary second
molars, primary maxillary canines, and primary maxil-
lary central incisors. A panoramic radiograph showed
the presence of the following unerupted permanent
teeth: all second molars, all second premolars (except
the maxillary left), and the maxillary right lateral incisor.
Agenesis of primary teeth (all first molars, mandibular
Figure 3. Panoramic radiograph image taken at the time of treat-
ment showing several congenitally missing teeth.
Figure 4. Maxillary prosthesis.
Figure 5. The metalo-ceramic tooth-supported fixed prosthesis in the mandibular arch.
160 Torres et al. Oral rehabilitation in ectodermal dysplasia
canines, all lateral incisors and mandibular central
incisors) and permanent teeth (all first premolars,
maxillary left second premolar, all canines, maxillary
left lateral incisor, all central incisors and mandibular
lateral incisors) was also observed (Figure 3).
The patient’s main complaint was her smile. Accord-
ing to her parents, she had behavioral and socialization
problems, especially at school due to low self-esteem;
she felt “ashamed” of smiling and talking to her friends
because of her “lack of teeth.”
Dental treatment options were discussed and con-
sent for treatment was obtained. In the first phase, the
importance of prevention was emphasized, such as su-
pervised toothbrushing with fluoridated toothpaste and
the use of dental floss. As result of her hypodontia, her
parents reported that she ate mostly soft and cariogenic
foods, thus dietary counseling was done. The second
phase consisted of dental prophylaxis and topical appli-
cation of fluoride (1.23 percent), followed by dental
procedures.
Recontouring of the primary maxillary central incisors
had been done before at a private dental office because
Journal of Dentistry for Children-86:3, 2019
 Figure 6. A low-intensity laser was applied at acupuncture points.
Figure 7. Six-month clinical and radiographic follow-up.
they were conical. A prostheses to replace the missing
primary maxillary right and left lateral incisors was made
(Figure 4). The lower arch presented with multiple con-
genitally missing teeth; only the primary second molars
and permanent mandibular first molars were present.
Previous treatment included a prosthetic appliance that
was of limited success due to significant discomfort ex-
perienced by the patient. She reported that it “hurt the
gums.” Since the alveolar ridge was very thin, during
speech and chewing the child experienced extreme discom-
fort caused by friction. A fixed prosthesis was proposed.
A metalo-ceramic tooth-supported fixed prosthesis
was made (Figure 5). These materials allowed better hy-
giene, durability, and esthetics. Replacement teeth were
made of metalo-ceramic material and fixed to the pri-
mary molars by means of metallic frameworks, which
circumvented the buccal and lingual surfaces, using ad-
hesive resin cement (Rely X, 3M ESPE, St. Paul, Minn.,
USA). To avoid interfering with the mandibular trans-
verse growth process, a bilateral connector was sectioned
on the midline of the fixed prosthesis using a guide
Journal of Dentistry for Children-86:3, 2019
wire inside a tube, allowing for internal sliding of the
two parts that made up the fixed prosthesis. Thus, it
was possible for the prosthesis to adapt to the physio-
logical growth process of the mandible.
While trying to take dental impressions for the study
models, the patient presented with an exaggerated gag
reflex. Low-intensity laser TF Premier Plus (MMOptics,
São Carlos, São Paulo, Brazil) was applied at the CS6
and IG4 acupuncture points (Figure 6), which was ex-
tremely effective. The power output used was 0.5 mW,
the wavelength was 808 nm, and energy setting of 4J
was chosen.
After six months, a conical permanent maxillary
lateral incisor erupted. Direct restorations (Filtek Z350
XT, 3M ESPE, St. Paul, Minn., USA) were made to
prepare the space for a new prosthesis with a primary
maxillary left lateral incisor and a panoramic radiograph
was obtained (Figure 7).
Oral rehabilitation in ectodermal dysplasia Torres et al. 161
DISCUSSION
Dental treatment of children with HED presents a
major challenge for dentists, and early oral rehabilitation
is of great importance. The poor development of teeth
and dental agenesis do not guarantee homogeneous
growth of the alveolar ridge. Additionally, the oral ano-
malies observed in HED can cause functional and esthetic
deficiencies, as well as social and psychological issues.
The difficulty in selecting a treatment for patients
with HED is due to the heterogeneity of the cases and
continued patient growth. Osseointegrated implants are
a highly successful therapeutic option after the patient
finishes growing.13,14
Children with HED who enter adolescence and are
undergoing or have completed rehabilitative treatment
will certainly reap many benefits. Their relatives are
the greatest witnesses of the importance this interven-
tion has; parents have confirmed that dental prostheses
significantly improved mastication, esthetics, and self-
esteem in young people with HED.15
Early dental intervention in cases of HED is funda-
mental. These patients require long-term follow-up, and
a good relationship between the clinicians and the child’s
caretakers is essential for a successful outcome.16 Knobloch
et al.17 followed a patient with HED from childhood to
adult life. Always aiming to promote the most appro-
priate oral rehabilitation, according to skeletal maturation
phases, many studies emphasize the importance of inter-
disciplinary management from early childhood.
Li et al.6 described prosthetic the treatment of six
four- to eight-year-old boys with HED using remov-
able partial or complete dentures. After four years, they
concluded that the early prosthetic treatment provided
a chance to improve esthetics and function and opti-
mized social integration. However, they had to reline
or remake the denture almost every six months because
of jaw growth and tooth development. Therefore, the
fixed prosthesis used in this case, due to the section in the
midline with a slippage device through a tube, allowed
the maintenance of arch growth. Thus the rehabilita-
tion was biodynamic, where the prosthesis allowed
not only the bony growth of the arches and dental ridge
but also stimulated them by creating the functional
stimulus through mastication. The device proposed here
was also an excellent option to increase the longevity of
the prosthesis. In addition to that, being fixed allowed
more comfort for the patient because it did not move
during speech or chewing, preventing the discomfort
and pain she had experienced before.
Clinical follow-up should be performed periodically
in order to check for device slippage and bone growth.
The patient was followed monthly for the first six
months and every three months after that. Replacement
of the prosthesis will be done when the device no longer
allows slippage for bone growth.
162 Torres et al. Oral rehabilitation in ectodermal dysplasia
The use of acupuncture to control gag reflex was very
effective. A literature review on the efficacy of acupunc-
ture in controlling these reflexes during dental impres-
sions showed that stimulation of acupuncture points,
especially CV-24 and PC-6, seems to provide a remark-
able reduction in gag reflex.18 Goel et al.12 used low-
level laser therapy (LLLT) on the PC6 acupuncture
point to suppress gag reflexes while taking maxillary
impressions of 40 four- to 14-year-old patients. Using
LLLT on the PC6 acupuncture point was found to be
effective in lowering anxiety levels, as observed by mo-
dified expressions of anxiety on a rating scale. Pulse
rates were significantly reduced and oxygen saturation
levels were significantly increased. The same results were
observed with our patient.
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