The ectodermal dysplasia (ED) encompasses a
colossal, heterogeneous group of hereditary disorders that
are defined primarily by defects in the development of two
or more tissues derived from embryonic ectoderm . The
tissues primarily involved are the skin, hair, nails, eccrine
glands, and teeth. Although Thurnam published the first
report of a patient with ectodermal dysplasia in 1848 ,
the term ectodermal dysplasia was not coined until 1929
by Weech . The most common ectodermal dysplasias are
X-linked recessive hypohidrotic ectodermal dysplasia
(Christ-Siemens-Touraine syndrome), and hidrotic ectodermal dysplasia (Clouston syndrome). Current
classifcation of ectodermal dysplasias is based on clinical features. Pure ectodermal dysplasias are manifested by
defects in ectodermal structures alone, while ectodermal
dysplasia syndromes are defined by the combination of
ectodermal defects in association with other anomalies .
Hypohidrotic ectodermal dysolasia is a congenital,
non-progressive disorder characterized by hypodontia,
hypohidrosis and hypotrichosis. It is inherited in an
autosomal dominant, autosomal recessive, or X-linked
patterns. The diagnosis is established by genetic tests or
after infancy, based on physical features. In some patients,
the pattern of inheritance is determined by family history,
and in others by molecular genetic testing.
Initially all three elements are divided into two
groups hidrotic and anhydrotic. One of the more common
types of ectodermal dysplasia also called anhidrotic
ectodermal dysplasiaand Christ-Siemens-Touraine
syndrome . The condition is inherited as an X-linked
recessive. Characteristic changes in teeth in these patients
are: both deciduous and permanent teeth are affected, the
alveolar ridges are hypoplastic, missing teeth or retarded
growth of teeth, peg-shaped, tooth enamel is also defective.
Dental treatment is necessary and children as young as 2
years may need dentures .
A 7 year-old girl (EE), Albanian nationality, live in
the village Svilare near Skopje city. Family history reveal
that mother have hipodontia of upper lateral incisors.
Orthopanthomogram investigations revealed presence of
several deciduous teeth and four first permanent molars
immature root growth (Figure 1) After two years another
was taken (Figure 2). At that time the development of the first permanent molars were finished, but right low first
permanent molar developed dental caries.
Figure 1: Orthopantomograph Showing Four First Permanent Molars with Immature Root Development
Figure 2: Orthopantomograph Took Two Year Later, Showing That the Development of The First Permanent Molars Was Finished
She had dry and sensitive skin since birth. Her scalp
hair and eyebrows were absent and she wears a wig (Figure
3). The skin was dry, scaly, lichenified and excoriated.
The nasal bridge was depressed, consistent with a "saddle
nose". She had maxillar and mandibular hypodontia with
typical conical incisors and perioral erythema. Intraoral
examination revealed undeveloped maxilla with poorly
expressed tubers, ﬂat palatal vault with slightly prominent
and wide palatal tori, hypertrophic gingivobuccal plicas.
Alveolar ridges were rather atrophic (knife - ridge) except
in the areas where teeth were present. The color of alveolar
mucosa and gingiva was normal. Severe hypodontia was
present with missing most of the primary and buds of the
permanent teeth. Underdevelopment of alveolar ridges
was also confirmed by orthopantomogram (Figure 1) that
revealed two permanent first molars teeth in the maxilla
and two in mandible, as well as only two developing
permanent teeth in the frontal region of the maxilla and
one in mandible. Routine blood and urine laboratory tests
Figure 3: 7-Year Old Girl with Wig on Her Head
Figure 4: Chromosome 4 at Position 14
Since patient was only 7 years old, with
undeveloped alveolar ridges, making of new maxillary
and mandibular mobile dentures could be considered as
a treatment. Preliminary impressions were made with
appropriate stock trays and irreversible hydrocolloid
material (Hydrogum soft, Zhermack, Italy). Casts were
prepared using dental stone and custom trays (Plaque Photo
Light - curing hybrid composite resin for making individual
trays, Dentabiz, Sweden) were fabricated respectively.
Border moulding was done with a thermoplastic material
(Hoffmann's Impression Compound green, Germany)
while the final (functional) impressions were made with
light body polyvinyl siloxane impression material (Low
viscosity C - Silicone Oranwash L, Zhermack, Italy). Final
casts were made using hard dental stone and temporary
bases (Hoffmann's Shellac Base Plates, Germany) with
wax rim (Modeling wax, Dentaurum, Germany) were
made respectively. Maxillo - mandibular relations were
established, vertical dimension of occlusion and centric
relation were recorded. Then the casts were mounted
on a semi adjustable articulator and artificial teeth (NT'nay acrylic resin teeth, Toros Dental, Turkey), reshaped
considering the child's age, were arranged according to a
balanced occlusion. Final trial was taken to verify vertical
and centric relations, occlusion, phonetics and aesthetics.
The maxillary and mandibular prosthesis (Figure 2) were
fabricated in the conventional heat cure acrylic resin (SR
Triplex Hot, Heat - curing denture base material, Ivoclar
Vivadent, Schaan Liechtenstein). The dentures were then
inserted in the patient's mouth and adjusted carefully.
Removable prosthesis made by acrylic resin
(complete dentures or partial dentures) are the most
frequently reported treatment modality for the dental
management of ED in childhood; these are cost effective,
and can be easily readapted and modified (relaying) during
periods of rapid growth.
Because the absence of teeth predisposes the child
to a lack of alveolar process growth, the construction of
dentures is complicated. A defciency in sweat glands causes a predisposition to increased body temperature,
and children with hypohidrosis/anhidrosis are extremely
uncomfortable during hot weather. Many of them
must reside in cool climates (McDonald 2). Orofacial
characteristics of this syndrome include anodontia or
hypodontia, hypoplastic conical teeth, underdevelopment
of the alveolar ridges, frontal bossing, depressed nasal
bridge, protuberant lips, and hypotrichosis . The case
report of ectodermal dysplasia by Gupta et al demonstrated
prosthetic management of ED through the strategic use
of telescopic retainer in the mandibular arch and fxed
prosthesis in the maxillary arch . Skrinjarić I et al. noted
that when used in conjunction with other methods the
anthropometrics pattern profile analysis can considerably
enhance detection of gene carriers for HED and increase
objective assessment of the craniofiacial region in HED
patients . Rathee M et al. in her study presented 6 year-old
boy and concluded that dental restoration aids the patient
in developing proper speech, deglutition, and mastication,
and may have dramatic social and psychological benefits
for these patients . Chaiban R et al. state that gaining self-confidence
after dental rehabilitation contributed tremendously to
the development of this patients . Cranioectodermal
dysplasia can affect additional organs and tissues in the
body. A kidney disorder in this patients can lead to a life threatening failure of kidney function known as end-stage
renal disease. Abnormalities of the liver, heart, or eyes
also occur in people with cranioectodermal dysplasia.
Cranioectodermal dysplasia is caused by mutations
in one of at least four genes: the WDR35, IFT122,
WDR19, or IFT43 gene. About 40 percent of people with
cranioectodermal dysplasia have mutations in one of the
four known genes. The cause of the condition in people
without mutations in one of these genes is unknown.
The IFT-A complex is essential for proper
regulation of the Sonic Hedgehog signaling pathway, which
is important for the growth and maturation (differentiation)
of cells and the normal shaping (patterning) of many parts
of the body, especially during embryonic development.
The exact role of the complex in this pathway is unclear.
4p14, which is the short (p) arm of chromosome 4
at position 14
Base pairs 39,182,404 to 39,285,810 on chromosome 4 (Homo sapiens Annotation Release 108,
GRCh38.p7) (NCBI) s fgure 4) This case report describes
a method for mobile prosthesis treatment of patient with
ectodermal dysplasia. Excellent oral hygiene is crucial
to the successful treatment of these patients. The patient
should use topical ﬂuoride daily for prophylaxis against
caries during the treatment.
This case highlights the positive effect of oral
rehabilitation on the physical, emotional and social life of
the patients with ED. Considering an age when patients
should be dentally treated, making removable dentures is a
rational, reasonable, acceptable and cost effective option.
No external funding was available for this study.
Statement of Conﬂict of Interest
The authors declare no conﬂict of interest.