PDF - Dental and Medical Problems

CLINICAL CASE
Dent. Med. Probl. 2009, 46, 1, 126–130
ISSN 1644−387X
© Copyright by Wroclaw Medical University
and Polish Stomatological Association
BOGUMIŁA FRĄCZAK1, DANUTA GÓRNIAK2, HALINA EY−CHMIELEWSKA1, EWA SOBOLEWSKA1
Difficulties in the Prosthetic Treatment of Patients
with Ectodermal Dysplasia – Case Report
Trudności w leczeniu protetycznym pacjentów
z zespołem ektodermalnym – opis przypadków
1
Katedra i Zakład Protetyki Stomatologicznej Pomorskiej Akademii Medycznej w Szczecinie
Katedra i Zakład Ortodoncji Pomorskiej Akademii Medycznej w Szczecinie
2
Abstract
Ectodermal dysplasia is a syndrome characterized by abnormalities in ectodermal structures. Its occurrence among
newborn ranges from 1:10,000 to 1:100,000. The main clinical symptoms of ectodermal dysplasia are the inabili−
ty to perspire (anhydrosis), poor hair (hypotrichosis), and oligodontia of deciduous and permanent teeth. Facial fea−
tures exhibit a more or less intense underdevelopment of the middle and lower part of the face, caused by agene−
sia of alveolar processes. In this paper the authors present two cases of ectodermal dysplasia: (1) a 2.5 year old
child with full symptoms of dysplasia and (2) an 18 year old patient with oligodontia of numerous permanent teeth
(Dent. Med. Probl. 2009, 46, 1, 126–130).
Key words: anhydrotic ectodermal dysplasia, symptoms, early treatment.
Streszczenie
Charakterystyczną cechą dysplazji ektodermalnej jest niedorozwój tkanek pochodzenia ektodermalnego.
Częstotliwość występowania dysplazji ektodermalnej według różnych autorów wynosi od 1 : 10.000 do 1 : 100.000
urodzonych dzieci. Zespół dysplazji ektodermalnej charakteryzują trzy główne objawy kliniczne: niepotliwość,
słabe owłosienie, braki zawiązków zębów mlecznych i stałych. W rysach twarzy stwierdza się bardziej lub mniej
nasilony niedorozwój środkowego i dolnego piętra twarzy, spowodowany niewykształceniem wyrostków zębo−
dołowych. Autorzy przedstawiają dwa przypadki pacjentów z dysplazją ektodermalną: dziecka 2,5−letniego
z pełnoobjawowym zespołem ektodermalnym oraz pacjenta 18−letniego z licznymi brakami zębów stałych (Dent.
Med. Probl. 2009, 46, 1, 126–130).
Słowa kluczowe: anhydrotyczna dysplazja ektodermalna, objawy, wczesne leczenie.
Ectodermal dysplasia is a rare abnormality of
ectodermal structures and can be found mainly in
boys. Its occurrence among newborn ranges from
1:10,000 to 1:100,000. It is defined as abnormali−
ties in two or more ectodermal structures, with
symptoms of trichodysplasia, dyshydrosis, ony−
chodysplasia, and dental anomalies [1]. Clinical
recognition of ectodermal dysplasia always
requires X−ray imaging diagnostics, preferably
pantomographic imaging [2, 3]. Although the
symptoms of dysplasia have been described for
more than 150 years, the very name of ectodermal
dysplasia was proposed in 1929. The author of the
term, A.A. Weech, divided it into two main vari−
ants: anhydrotic dysplasia, later termed ‘major
form’ by Franceschetti, and hydrotic dysplasia
– ‘minor form’ [4]. The hydrotic form is inherited
in the autosomal dominant mode, and is character−
ized by oligodontia, deformed nails, sparse fair
hair, lack of eyebrows and eyelashes, brown skin
pigmentation, and excessive skin thickness on
palms and feet. Anhydrotic dysplasia is nowadays
also called hypohydrotic due to a non−total lack of
sweat glands. Besides the hydrotic form, ectoder−
mal dysplasia may also be characterized by light
pigmentation of the skin, wrinkled skin, frequent
co−occurrence of lack of eyebrows and eyelashes,
protruding forehead, narrow nose, ear deformation
(so called ‘satyr’s ear’), thick lips, and atypical
conical shape of retained teeth. All these features
127
Prosthetic Treatment in Ectodermal Dysplasia
contribute to the characteristic senile facial
appearance of children with ectodermal dysplasia.
The dysplasia is accompanied by body hyperther−
mia with fevers and seizures, especially in infants.
Patients also suffer from difficulties within eating
and chewing, as well as with speech [5−7]. Many
authors reported a family occurrence of hypohy−
drotic dysplasia, X−chromosomal recessively
inherited. Female carriers have less intense symp−
toms, while full symptoms can be observed in
men. In this mode of inheritance, a female carrier
may transmit the mutated gene to half of her chil−
dren, regardless of sex. A male carrier has healthy
sons and daughters that are carriers [7, 8].
In this paper the authors present the proce−
dures in early and late orthodontic and prosthetic
treatment of patients with hypohydrotic dysplasia.
Children with ectodermal abnormalities require,
beside the dental treatment, also an increased psy−
chological support. Oligodontia and presence of
atypical teeth lead to alienation and loneliness.
The child becomes shy, aloof, and hence has prob−
lems with proper psychoemotional development.
Usually children with dysplasia are also less active
and less talkative than healthy children [6, 8].
Oligodontia affects biting off the food and chew−
ing, thus leading to worse nutrition [9].
Considering all the aformentioned problems, early
orthodontic and prosthetic treatment helps the pre−
vent negative effects on the child’s body and psy−
che. Full rehabilitation requires long−term treat−
ment and teamwork from the pedodontist, ortho−
dontist, prosthodontist and oral surgeon [10].
Children are very appreciative patients and per−
fectly adapt to dentures.
The mode of treatment depends on the
patient’s age, the number of missing teeth and the
quality of existing teeth, position on the dental arch,
and the type of co−existing dental and occlusal
anomalies [11]. It should be emphasised that a lack
of orthodontic and prosthetic rehabilitation during
the growth of the child leads to the disfunction of
muscles and therefore to an increase in malocclu−
sion and deteriorated facial features. This in turn
may lead to difficulties in later treatment [12].
A dynamic development in prosthetic care has
resulted in new solutions for patients that require
movable dentures. Such dentures should be con−
structed and incorporated into the stomatognathic
system so they do not constitute an iatrogenic fac−
tor, but instead have a therapeutic and preventive
function. A good denture needs good basic mate−
rial. One should consider physicochemical prop−
erties and also the reaction of the material in the
oral cavity. Dental surgeons are mainly interested
in the deposition of plaque and bacteria on the
denture surface, and also the allergizing proper−
ties of prosthetic materials. No less important,
both for the dental surgeon and the patient, is the
appearance of the denture and the durability of its
colour [13]. Acrylic may be a potential pathogen−
ic factor for the adjacent mucous membrane of the
oral cavity. 20−70% patients using movable den−
tures experience prosthetic stomatopathies. The
alternative solution may be acetal resin, charac−
terized by a high resistance to abrasion, perfect
stretchability and mechanical strength, high
resilience, low thermal conduction, and appropri−
ate rigidity. It is also thought to be non−toxic and
non−allergic [13, 14].
Case Report
Case no. 1
A 2.5 year old boy was directed to the
Orthodontics Institute at the Pomeranian Medical
Academy from the Medical Genetics Department
at the Child Health Center in Warsaw. The child
was hospitalized due to unexplained recurring
fevers. Interviews with the child’s family revealed
the occurrence of ectodermal dysplasia in his
mother and sister.
During clinical examination typical symptoms
were observed: dry and bright hypoplastic skin
with a decreased perspiration, weak hair and con−
siderable oligodontia. Also typical facial features
were observed: shorter middle and lower section
of the face, caused by an abnormal development of
alveolar processes and lack of some teeth; deeper
chin furrow and everted lower lip; facial skin with
visible inflammations in the area of deep−set eyes
(Fig. 1).
Fig. 1. 2.5 year old patient M.Ś. before the beginning
of treatment
Ryc. 1. 2,5−letni pacjent M.Ś. przed rozpoczęciem
leczenia
128
Intraorally, two teeth with atypical structures
were observed. The pantomographic image did not
show any remnants of any other deciduous teeth,
only poorly visible probable buds of permanent
teeth: 11, 21, 23, 31 and 41 (Figs. 2, 3).
Prosthetic and orthodontic treatment was
applied. After the vertical dimension of occlusion
had been determined, upper and lower denture
were made. The vertical dimension of occlusion
was very difficult to determine (Figs. 5, 6). The
dentures were made using Kalot’s method and
artificial teeth with flat cusps. Due to the early age
of the patient, the dentures were a form of ortho−
dontic appliance. The dentures were equipped
with orthodontic elements enabling the correction
of dental appliances and having a positive effect
on the development of the jaw (Fig. 6). The patient
easily accepted the dentures and his new appear−
ance (Fig. 7). However, dentures for children
require changes throughout the growth and devel−
opment of the stomatognathic system, and thus the
child remains under the constant care of an ortho−
dontist and prosthodontist.
B. FRĄCZAK et al.
Fig. 4. 2.5 year old patient M.Ś. after completing the
first part of treatment
Ryc. 4. 2,5−letni pacjent M.Ś. po zakończeniu pierw−
szego etapu leczenia
Fig. 5. 2.5 year old patient M.Ś. after the completion
of the first part of treatment
Ryc. 5. 2,5−letni pacjent M.Ś. po realizacji pierwszej
części leczenia
Case no. 2
Fig. 2. Intraoral picture of the patient. Remaining two
deciduous teeth of a characteristic cone like shape
Ryc. 2. Wewnątrzustne zdjęcie pacjenta. Pozostające
zęby mleczne o charakterystycznym stożkowatym
kształcie
Fig. 3. Patient with a visible occlusion rim
Ryc. 3. Pacjent z widocznym wzornikiem zwarciowym
An 18 year old man was directed to the
Orthodontic Department at the PMU in Szczecin
from a local practice in Gryfice. The patient had
not had any orthodontic or prosthetic treatment
before. The family interview revealed a less pro−
nounced form of ectodermal dysplasia in a cousin.
During clinical examination, typical symp−
toms were observed: dry, bright and hypoplastic
skin with decreased perspiration, weak hair, con−
siderable oligodontia. The middle and lower sec−
tion of his face was shortened due to the abnor−
malities in alveolar processes. The chin furrow
was deeper than normal, lower lip everted. The
excess frontal tubers, saddle nose, thick and evert−
ed lips were observed. The symmetry of the face
was maintained (Fig. 8). Intraoral examination
showed narrow edges of alveolar processes and
the underdevelopment of the jaw and mandible.
Two retained deciduous teeth: 55 and 75, and 11
permanent teeth were observed in the jaw: two
central incisors, two fillings, one bicuspid, and
two molars; and in the mandible: two fillings and
two molars (Figs. 9, 10).
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Prosthetic Treatment in Ectodermal Dysplasia
Fig. 10. Patient S.H. after treatment. Upper dental arch
Ryc. 10. Pacjent S.H. po zakończeniu leczenia. Łuk
zębowy górny
Fig. 6. 18 year old patient S.H. before the beginning
of treatment
Ryc. 6. 18−letni pacjent S.H. przed rozpoczęciem
leczenia
Fig. 7. Intraoral picture of the patient. Upper dental arch
Ryc. 7. Wewnątrzustne zdjęcie pacjenta. Łuk zębowy
górny
Fig. 8. Intraoral picture of the patient. Lower dental
arch
Ryc. 8. Wewnątrzustne zdjęcie pacjenta. Łuk zębowy
dolny
Fig. 9. Intraoral picture of the patient during treatment
Ryc. 9. Wewnątrzustne zdjęcie pacjenta podczas
leczenia
The patient was given orthodontic treatment
with a partially fixed braces in the upper arch in
order to line incisors, close the diastema and
restoration of the site for lateral incisors. After
removal of the braces, retentive treatment was
applied, and upper and lower denture were made
from acetal resin. The patient is under constant
prosthetic and orthodontic care.
Discussion
The emotional development of children often
depends on the acceptance from the environment.
A child at kindergarten age with visible physical
defects has serious problems with being accepted
by peers. A considerable number of missing teeth
also impairs the basic functions of the stomatog−
nathic system and affects the development of the
jaw and dental arches, leading to facial and
occlusal anomalies.
Children with ectodermal dysplasia frequently
experience psychological problems. They are less
active, more shy and often very silent. Due to the
great number of missing teeth, young patients
have problems with biting off and chewing food,
which affects their nutrition and speech. The feel−
ing of being different has a disadvantegous effect
both psychoemotional development which often
leads to serious trauma. Early orthodontic and
prosthetic rehabilitation that restores the correct
function of the stomatognathic system not only
improves speech, but also enables proper psychoe−
motional development. In mature patients, it is
possible to carry out reconstruction with implants,
which to a great extent improves the function of
prosthetic appliances.
It should be mentioned here that patients with
ectodermal dysplasia should be under the treatment
and observation of a team of specialists (pediatri−
cian, dermatologist, pedodontist, orthodontist, pro−
sthodontist) during the whole time of growth.
Conclusions
Patients with ectodermal dysplasia require
multi−specialized treatment. Interdisciplinary
treatment should be implemented in the earliest
stage of the child’s growth. Orthodontic and pros−
thetic treatment is necessary for correct develop−
ment of the stomatognathic system and the psyche
of the young patient.
130
B. FRĄCZAK et al.
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Address for correspondence:
Bogumiła Frączak
Katedra i Zakład Protetyki Stomatologicznej PAM
Powstańców Wielkopolskich 72
70−111 Szczecin
Poland
Tel.: +48 91 466 17 15
E−mail: [email protected]
Received: 23.02.2009
Revised: 5.03.2009
Accepted: 6.04.2009
Praca wpłynęła do Redakcji: 23.02.2009 r.
Po recenzji: 5.03.2009 r.
Zaakceptowano do druku: 6.04.2009 r.