Prosthetic treatments for patients with ectodermal dysplasia

Alan J. Hickey, DMD,a and Thomas J. Vergo, Jr, DDSb

Maine Medical Center, Portland, Me., and Tufts University School of Dental Medicine, Boston, Mass.
This article defines and describes the nature of ectodermal dysplasias, highlighting the dental com-
plications associated with this congenital/developmental condition. A treatment protocol for
meeting patients’ functional and esthetic needs as they grow into adulthood is presented.
(J Prosthet Dent 2001;86:364-8.)

T he National Foundation for Ectodermal Dysplasia

(NFED) defines ectodermal dysplasia (ED) as a genet-
ic disorder in which there are congenital birth defects
(abnormalities) of 2 or more ectodermal structures.
These structures may include skin, hair, nails, teeth,
nerve cells, sweat glands, parts of the eye and ear, and
parts of other organs. The NFED lists 20 common
types of the disorder. Severity differs, even among peo-
ple affected with the same type of ED (Fig. 1).
The diagnosis of ED can be difficult because of
the variety of types, range of abnormalities, and
severity of defects singularly and collectively. It is
important to identify the diagnostic components of Fig. 1. Schematic drawings of affected structures derived
from ectodermal embryonic layer. (From “A Family Guide to
the disorder so that appropriate treatment can be
the Ectodermal Dysplasias,” courtesy of the National
rendered to ensure the best quality of life for ED Foundation for Ectodermal Dysplasias.)
patients. It is also important to understand the genet-
ic hereditary patterns so that the parents of the
affected child can be counseled and better predict the
chances that future offspring will be affected.
Defective genes cause ectodermal dysplasias; these
genes can be inherited from one or both parents or
manifested through gene mutation. Figure 2 summa-
rizes the mechanisms of inheritance.1
As noted earlier, any structure derived from the
ectoderm can be defective in ED. Each type of ED
involves different structures, and the severity of the
disorder varies from patient to patient. In general, the
skin of affected children is lightly pigmented and
appears thin and almost transparent; surface blood ves-
sels are easily visible. Pigmentation is heaviest around
the eyes (usually wrinkled) and on the elbows, palms,
and soles, with the latter 2 areas hyperkeratotic in
nature. The skin is usually dry, scaly, and easily irritat-
ed as a result of poorly developed or absent oil
(sebaceous) glands. Treatment for the dry skin
involves daily bathing with “superfatted” soap fol- Fig. 2. Inheritance pattern associated with ectodermal dys-
plasias. (From “A Family Guide to the Ectodermal
Dysplasias,” courtesy of the National Foundation for
Presented at the joint meeting of the American Academy of
Ectodermal Dysplasias.)
Maxillofacial Prosthetics and the International Congress of
Maxillofacial Prosthetics, Kauai, Hawaii, November 2000.
aActive Staff, Maine Medical Center; Private practice, Portland, Me.
bProfessor, Department of Restorative Dentistry, and Division Head,

Maxillofacial Prosthetics, Tufts University School of Dental lowed by the use of moisturizing lotions/creams.
Medicine; Active Staff, New England Medical Center and Sunscreen with a moisturizing base is recommended
Boston Medical Center; Private practice, Boston, Mass. when the child is exposed to the sun.

364 THE JOURNAL OF PROSTHETIC DENTISTRY VOLUME 86 NUMBER 4

HICKEY AND VERGO
Fig. 3. Panoramic radiograph of 17-year-old boy diagnosed with ectodermal dysplasia. Note
lack of alveolar bone development caused by lack of tooth formation. Implant-supported
fixed detachable prosthesis on mandibular arch, opposed by overdenture supported by
retained natural teeth, was proposed treatment of choice.
Sweat glands can be absent, reduced in number, or
nonfunctioning (hypohydropic), which may result in
elevated body temperature. Higher body temperature
can develop during illnesses, during strenuous physical
activity, when the environmental temperature is elevat-
ed, or even when the child is wearing heavy clothing.
Treatments of these hyperthermic episodes are part
preventive and part reactive in nature. Limiting physi-
cal activity in warm/hot weather, increasing fluid
intake, and proper dressing will lower the incidence of
such events. When the child is overheated, he/she
should be given a lukewarm or sponge bath to reduce
the body temperature.
Scalp hair may be absent, sparse, very fine, pigment-
ed, or abnormal in texture. Eyebrows, eyelashes, and
other body hair also may be sparse or absent. When hair
is present, it may be fragile, dry, and generally unruly
because of the lack of oil glands. Treatment consists of
the use of gentle or protein-coating shampoos. Wigs
afford ED children an improved quality of life in mod-
erate to severe cases of hypotrichosis. Fingernails and
toenails also may show faulty development and be
small, thick or thin, brittle, discolored, cracked, and/or
ridged. Treatment consists of lubricating the nails,
keeping them short and smooth, and consulting a
physician if fungal or yeast infections persist.
The most common consequence of ED that a max-
illofacial prosthodontist can treat is complete or partial
anodontia (with or without cleft lip and cleft palate),
which has significant developmental/growth conse-
quences. If teeth are present, they are taped (peg-like),
malformed, and widely spaced. Where teeth are miss-
ing, the alveolar bone is hypoplastic because of the lack
of tooth bud formation; the alveolus never forms,
leading to a lack of development of the jaw(s) and a
reduced vertical dimension of occlusion (Fig. 3). It is
OCTOBER 2001
THE JOURNAL OF PROSTHETIC DENTISTRY
not uncommon for the face of an affected child to take
on the appearance characteristic of old age.
This article reviews the treatment options available
to the ED patient and their rationale. Treatment of the
ED patient generally includes a removable and/or
fixed partial denture, a complete denture prosthesis
(overlaying affected teeth when the vertical dimension
of occlusion allows), and/or an implant-retained pros-
thesis when indicated. In those situations where cleft
lip and cleft palate are part of the syndrome, addition-
al treatment with a combination of plastic surgery, oral
and maxillofacial surgery, and/or maxillofacial pros-
thetics may be indicated.
TREATMENT
It is generally accepted by pediatric dentists that at
age 2, it is normal for a child to have all of his/her
deciduous teeth or to have none. Prosthetic interven-
tion with a child as young as 2 or 3 years therefore can
be successful, especially if the child is cooperative and
properly motivated by parents and relatives. Early
intervention affords the child the opportunity to
develop normal forms of speech, chewing, and swal-
lowing; normal facial support; and improved
temporomandibular joint function. It should be noted
that the psychosocial benefit of intervening when the
child is young is as important as the dental benefit.2-5
As the ED child matures, the removable prosthesis
will have to be relined, rebased, or remade to accom-
modate growth changes and maintain the patient’s vital
oral functions of speech, chewing, and swallowing.
When the ED child reaches his/her early teenage years,
orthodontic treatment may be indicated, as consolida-
tion of spaces may better prepare the mouth for a fixed
partial denture or implants in the future (Fig. 4).
When growth has stabilized in the older ED
365
THE JOURNAL OF PROSTHETIC DENTISTRY HICKEY AND VERGO

A B

C D

E F
Fig. 4. A, Eight-year-old girl diagnosed with ectodermal dysplasia with associated cleft palate.
B, Maxillary and mandibular overdentures in place, supported by existing teeth. Overdentures
restored oral function and provided facial and psychosocial support. C, Same patient at age 18
years. D, Same patient after completion of periodontal surgery, root canal therapy on maxil-
lary and mandibular anterior teeth, and posterior crowns in preparation for removable partial
overdentures. E, Panoramic radiograph of patient after treatment. F, Completed maxillofacial
prosthetic treatment combining fixed prosthodontics with removable partial overdentures.

patient, osseointegrated implants can be used to sup- DISCUSSION

port, stabilize, and retain the prosthesis.6-11
Depending on the pattern of missing teeth and the
remaining available alveolar bone, the ideal long-term
prosthetic prognosis often requires implants. Implants
have been shown to help preserve alveolar bone. If
bone atrophy progresses to the extreme in these
already alveolar-deficient patients, implant placement
may not be possible without bone grafting. It is impor-
tant to intervene with implants as early as possible,
usually when the patient is in his/her late teens and
pubescent growth has ceased (Fig. 5).
In this patient population affected by multiple con-
genital/developmental deficiencies of ectodermal
origin, including congenitally missing teeth, mal-
formed peg-like teeth, and total anodontia, it is
important to provide early prosthodontic treatment to
replace missing teeth and/or restore vertical dimen-
sion of occlusion. Because of early-age intervention
and the need to easily modify the intraoral prosthesis
during rapid-growth periods (generally every 2 to 4
years), a removable partial denture or complete den-

366 VOLUME 86 NUMBER 4

HICKEY AND VERGO THE JOURNAL OF PROSTHETIC DENTISTRY

A B

C D

E
Fig 5. A, Female patient maintained with removable prostheses until age 20 years.
Orthodontic alignment of maxillary right and maxillary left central incisors with osseointe-
grated implants in posterior quadrants. Lingual placement of implants was necessitated by
lack of buccal alveolar formation. B, Mandibular arch with implants in place. C, Fixed
detachable prostheses in 3 sections. D, Prostheses in place. E, Panoramic radiograph of fixed
detachable prostheses in place.

ture prosthesis is indicated initially. This treatment
protocol affords the ED patient and his/her family an
easy, affordable, and reversible method of dental habil-
itation. Full cooperation of the patient and full support
of the ED patient’s family is essential if removable
prostheses are to be successful in preteen patients. As
the patient grows, the maxillofacial prosthodontist
should follow the patient closely to intercept tissue
irritations and occlusal discrepancies that result from
growth.
When full growth is achieved, treatment planning
may include an implant-retained prosthesis. Despite

OCTOBER 2001 367

THE JOURNAL OF PROSTHETIC DENTISTRY
the obvious advantages of a fixed implant-retained
prosthesis, in some situations, a removable implant-
retained prosthesis may be indicated. When partial or
full anodontia exists, it involves the deciduous teeth
and any permanent teeth that would normally follow
in the alveolar space. During the implant diagnostic
work-up, care must be taken to determine whether
there is adequate bone level to receive the implants
and, once the implants are in place, whether there is
adequate vertical dimension of bone to restore the
implant. Similarly, it is important to diagnostically
determine the projected superstructure length so that
excessive lever forces are not created as a result of the
loss of alveolar height.
An understanding of the ED patient’s psychosocial
status is crucial to any prosthodontic treatment
effort. The unesthetic appearance that accompanies
ED syndrome often has a negative psychological
effect on the patient. Poor self-image, peer pressure,
and school/job related discrimination have been
directly related to psychological scarring experienced
by ED patients. Providing expedient prosthodontic
treatment to manage orofacial disfigurement may
afford the patient some measure of confidence. Early
prosthodontic intervention can be accomplished with
a removable prosthesis, which can effect a rapid and
painless result and, at the same time, minimize the
onset of emotional and psychosocial problems for the
patient and his/her family.2-5
SUMMARY
The nature of ectodermal dysplasias has been
described, with special emphasis on the dental compli-
cations associated with this congenital/developmental
condition. Early dental intervention can improve the
patient’s appearance and minimize the onset of emo-
tional and psychosocial problems often experienced by
ED patients.
368
HICKEY AND VERGO
REFERENCES
1. Rimoin DL, Connor JM, Pyeritz RE. Emery and Romoin’s principles and
practice of medical genetics. 3rd ed. London: Churchill Livingstone;
1996. p. 1279-83.
2. NaBadalung DP. Prosthodontic rehabilitation of an anhidrotic ectodermal
dysplasia patient: a clinical report. J Prosthet Dent 1999;81:499-502.
3. Hickey A, Vergo TJ Jr. Prosthodontic consideration in the treatment of
patients with maxillary and mandibular deficiencies. J Prosthet Dent
1991;66:645-9.
4. Clifford E. Psychosocial aspects of orofacial anomalies: specialties
in search of data in orofacial anomalies, clinical and research impli-
cations. Proceedings of Conference-ASHA Report 8. Washington;
1973.
5. MacGregor FC. Social and psychological implications of dentofacial dis-
figurement. Angle Orthod 1970;40:231-3.
6. Guckes AD, Brahim JS, McCarthy GR, Ruby SF, Cooper LF. Using
endosseous dental implants for patients with ectodermal dysplasia. J Am
Dent Assoc 1991;122:59-62.
7. Lekholm U. The use of osseointegrated implants in growing jaws. Int J
Oral Maxillofac Implants 1993;8:243-4.
8. Smith RA, Vargervik K, Kearns G, Bosch C, Koumjian J. Placement of an
endosseous implant in a growing child with ectodermal dysplasia. Oral
Surg Oral Med Oral Pathol 1993;75:669-73.
9. Oesterle LJ, Cronin RJ Jr, Ranly DM. Maxillary implants and the growing
patient. Int J Oral Maxillofac Implants 1993;8:377-87.
10. Cronin RJ Jr, Oesterle LJ, Ranly DM. Mandibular implants and the grow-
ing patient. Int J Oral Maxillofac Implants 1994;9:55-62.
11. Pigno MA, Blackman RB, Cronin RJ Jr, Cavazos E. Prosthodontic man-
agement of ectodermal dysplasia: a review of the literature. J Prosthet
Dent 1996;76:541-5.
Reprint requests to:
DR ALAN J. HICKEY
GRANITE HEIGHTS
276 CANCO RD
PORTLAND, ME 04103-4221
FAX: (207)773-6552
E-MAIL: ajhfam@maine.rr.com
Copyright © 2001 by The Editorial Council of The Journal of Prosthetic
Dentistry.
0022-3913/2001/$35.00 + 0. 10/1/118876
doi:10.1067/mpr.2001.118876
VOLUME 86 NUMBER 4