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Case series: treatment considerations in x-linked hypohidrotic ectodermal dysplasia.


Until recently, 192 rare but distinct conditions, in which ectodermal derived tissue is affected, have been described [Freire-Maia et al., 2001]. In these conditions various defects in the morphogenesis of ectodermal derived structures (hair, teeth, nails and glands) were observed [Freire-Maia and Pinheiro, 1984]. The most common type of ectodermal dysplasia is the X-linked hypohidrotic ectodermal dysplasia (HED; OMIN #305100) with a birth frequency of 1:10,000 [Carter, 1977] to 1:100,000 [Stevenson and Kerr, 1967]. In X-linked HED, the symptoms of the affected males are characterised by sparse, thin, dry hair, dry skin and a reduced ability to sweat, as the number of sweat glands is diminished [Freire-Maia and Pinheiro, 1984]. Furthermore, the oral symptoms are: agenesis of most of the primary and permanent teeth deviated tooth morphology and reduced salivary secretion [Soderholm and Kaitila, 1985; Crawford et al., 1991; Nordgarden et al, 2003; Lexner et al., 2007a, 2007b]. The lack of teeth leads to decreased facial height, protruding lips and an undeveloped alveolar bone [Gorlin et al., 2001]. The female carriers of X-linked HED show a milder, but variable degree of symptoms, due to the X-chromosome inactivation [Pinheiro and Freire-Maia, 1979; Freire- Maia and Pinheiro, 1984].

X-linked HED is caused by mutations in the EDA gene located in region Xq12-q13.1. This gene, expressed in tissues derived from ectoderm, encodes the transmembrane type II protein ectodysplasin. This protein is a member of the tumour necrosis factor family [Kere et al., 1996; Bayes et al., 1998; Mikkola et al., 1999]. More than 86 different mutations in the EDA gene have been identified (The Human Gene Mutation Database, Cardiff).

As the affected males lack most (some or all) of the primary and permanent teeth and the teeth present often show malformed crown morphology, they should be referred to a paediatric dentist at an early age. The dental treatments are often lengthy and complicated and therefore the dentist should be experienced in treating the special needs of these children. S/he should also have the ability to establish a good relationship with the child and parents, and finally to be able to assess a child's maturity for treatment [Nowak, 1988; Bergendal and Kurol, 1988]. The dental treatments often involve partial dentures, full dentures or fixed prosthetic treatment [Snawder, 1976; Shaw 1990; Guckes et al., 1991].

The aims of this paper were to describe our treatment considerations, over a period of over 20 years, obtained from the treatment of several boys affected with X-linked HED and to discuss the different problems that may arise in connection with these kinds of treatments.

Material and methods

The treatment group included 10 affected males treated at the Dept. of Paediatric Dentistry and Clinical Genetics, School of Dentistry, Copenhagen, Denmark, from 1985 until 2009. All affected males were clinically and genetically diagnosed with X-linked HED and nine of them were born to mothers who were female carries. All but one had been referred to the department at an early age (11%--6 years). The last patient was referred at a later age, due to treatment failure at another dental clinic.

The overall treatment protocol included:

* Adaptation appointments in order that the patient and parents become acquainted and confident with the dental team, furthermore, to evaluate each child's maturity for treatment,

* Removable prosthesis,

* Whenever necessary, restoration of the incisors conical crown morphology with composite resins,

* Whenever required, orthodontic treatment for closure/ reduction of any median diastema.

Evaluation of the treatment outcomes were a subjective evaluation of different criteria:

* The dentist's criteria for success were:

* The continuous full cooperation of both the patient *and parents is most important,

** Acceptance of and adaptation to the prosthesis,

** Regular usage of the prosthesis including at meal time,

* Good cosmetic result of the prosthetic and restorative treatments.

* Our observations regarding the success criteria of the parent's were:

** Their continuous cooperation and support of the treatment with regard to the usage of the prosthesis,

** Satisfaction regarding the cosmetic and functional results of the treatment,

** A commitment to attend all dental appointments, which may be very frequent in periods.


To the best of our knowledge this paper is one of the only papers that describe the treatments of a larger group of males affected with X-linked HED. The overall dental treatments implemented on the affected males treated at the department are given in Table 1. This table includes general clinical data as well as information about the prosthetic, restorative and orthodontic treatments.

An overall summary of some of the data, given in the table, shows that the mean number of missing primary teeth was 14 (range 9-8 teeth), while the mean number of missing permanent teeth (excluding M3) was 23 teeth (range 1826 teeth). The mean age for referral to the department was 4 years (range 9 month-9 years). Finally the mean number of appointments at the department was 32 (range 7-59 appointments), while the mean number of adaptation appointments was 4 (range 1-7 appointments).

The outcome of the treatments

In 7 out of 10 patients, the treatment was a success for the patient as well as for the parents and dentist. The patients adapted well to their prosthesis and gained good retention and stability. In 3 out of 10 patients the treatment was not considered a success from the dentist's point of view; however, this does not always imply that the patient felt that the treatment was a failure.

The reasons for lack of success were:

* One patient received his prosthesis at the age of 5. The parents persuaded the dentist to restore the conical crown morphology of the incisors at the same time, as his peers were teasing the patient. However he totally refused to wear the prosthesis or to receive any other kind of dental treatment until he was an adult.

* The second patient was plagued by other serious symptoms of the disease and had been hospitalised repeatedly. Therefore, the motivation and cooperation of the patient and parents were diminished and the parents did not have the energy needed to support the patient and the dental team.

* The third patient was referred from another dentist, because of treatment failure, and marked lack of cooperation on part of the family. The treatment, at the department, also failed, as the family still was uncooperative.


From these observations we agree with previous studies that the dental treatment of males affected with X-linked HED should begin as early as possible in order to gain good chewing ability, good aesthetics and of course to avoid teasing and social isolation [Bergendal 2002; Nunn et al., 2003]. It is, however, of utmost importance to evaluate each patient's maturity for dental treatment and the motivation and cooperation of the patient and parents before the treatments start [Nowak et al., 1988; Boj et al., 1993; Hickey and Vergo, 2001].

One question that might arise is whether we could have done things differently to change the outcome of the treatment in the three unsuccessful treatments. The conclusion was probably not. As professionals, it has to be remembered that the affected families have different ways to mange the challenges that arise when a family member has a genetic condition. In the cases reported here, the challenge was the lengthy dental treatment these children often received. These time consuming treatments might in some cases result in the lack of cooperation of the family and patients, which are needed in order to have a successful treatment outcome. However, it is also important that the dentists, at all time, examine their own routine to see if things can be done differently in order to achieve even better treatment results.

Findings regarding the prosthetic and restorative treatments. As seen in Table 1, the number of appointments varied among patients. The affected males referred were only treated and followed up at the department, with regard to the dental treatment which arose in connection with their genetic condition (mainly prosthetic treatment), while all the regular dental examinations were carried out at their respective community dental clinic. As observed from the date in Table 1 it can be concluded that although the number of appointments varied among patients, the dental treatments of children with X-linked HED were and are rather time-consuming and complex. Therefore, the optimal treatments of these patients should be approached as a multidisciplinary task, and the treatment teams should include different dental and medical areas of specialisation, such as paediatric dentists, orthodontists, prosthetic dentists, dermatologists, a clinical geneticist and others [Farrington, 1988; Kupietzky and Houpt, 1995; Bergendal 2002; Hobkirk 2006]. However, in Denmark we do not have an officially recognised speciality in Paediatric Dentistry as yet. Therefore general dental practitioners often treat those children but mainly gain experience only by testing very limited of such children.

From the first time a patient receives a removable prosthesis the correct vertical dimension in occlusion is obtained. This is determined by evaluation of the vertical dimension at rest minus 2 mm. In some patients it can be difficult to attain the correct vertical height as they lack most of their primary and permanent teeth and therefore have never had a defined occlusion. However, it is very important to obtain the correct vertical dimension as it will result in a less distinct facial appearance, as the vertical facial height is nearer to normal, the lips less protruding and sulcus mentolabialis less distinct.

As observed from Table 1, the prostheses were re-made regularly. The main reasons for remaking of the prostheses were:

* Eruption of the permanent teeth, which often resulted in long periods in which the patients either could not use the prostheses as they prevented the eruption of the teeth, or felt that the prostheses did not function optimally,

* The vertical growth of the mandible, which resulted in an open bite posteriorly (Fig.1).



Therefore, when a treatment plan is made for these children there are different factors that should be taken into consideration regarding the remaking of the prostheses and the follow up visits [Nowak et al., 1988; Boj et al., 1993; Shaw 1990]. One such factor is the eruption of the permanent teeth because it may require modifications in a prosthesis, which results in reduced retention and stability of the prosthesis [Nowak et al., 1988].

In 5 out of 10 patients the conical crown morphology of the maxillary incisors were restored with composite resin restorations. In some of the patients the eruption of these teeth was slow and the patient and parents were unhappy with the appearance of the teeth. As a result it was necessary to restore the tooth morphology before the teeth were fully erupted. In such cases it is important to remember to re-make these treatments when the teeth are fully erupted. Another problem that may arise in connection with the eruption of the permanent teeth is ectopic eruption, which might result in a deviation of the tooth in the dental arch and difficulty in function of the teeth.

Until now, 5 of the patients reported on herein have received orthodontic treatment for closure/reduction of the medial diastema and creation of space for lateral incisors in the prosthesis (Fig. 2). The length of the treatment varied from 2-7 month. Of those who completed treatment, 3 out of 4 (at the age of 18 years), chose to continue treatment with prostheses as adults and postpone the implant treatment.

It is vital to remember, especially in families with more than one generation of affected males/female carriers, that the parents probably also underwent a lengthy dental treatment and maybe teasing from their peer group. In our patient group most of the patients had who that were carriers and some lacked as many as 17 teeth while others only lacked a few. Regardless of how many teeth they lacked, many of the women had been through lengthy treatment to replace the missing teeth as well as restoring of the conical crown morphology. These mothers told us repeatedly that they were quite tired of dental treatments and repeated restorations. We think that this might also result in a lower tolerance of the parents toward their own child's treatment. Therefore, it is of importance that dentists have an empathetic approach to caring for the whole family.

Furthermore, it should be explained to both the parents and patient that the treatment is a lengthy processes, with periods of more intensive need for treatment and corrections (for example, when the permanent teeth erupt). If this information is not given, the patient and/or parents might become tired of the treatment along the way and stop it.


In order to have success in the dental treatment of children affected with X-linked HED, dentists should take into consideration the motivation of both the patient and parents as well as the patient's acceptance of treatment. Furthermore, the treatment is rather time consuming and should involve different dental and medical areas of specialisation. Finally the empathy of the dentists concerned is crucial for a successful treatment, in which both the patient and parents are satisfied.


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MO Lexner, L Almer

Dept. of Paediatric Dentistry and Clinical Genetics, School of Dentistry, University of Copenhagen, Denmarks

Postal address: Dr M. O. Lexner. Department of Paediatric Dentistry and Clinical Genetics, School of Dentistry, University of Copenhagen, Norre Alle 20, 2200 Copenhagen N, Denmark.

Table 1. Dental treatment records of 10 males affected with X-linked

Patient   Outcome   No. of    Number of      Age         Years
  no.     Success   missing    missing    refereed/    treated in
          (S) or    primary   permanent    started     department
          Failure    teeth      teeth     treatment
            (F)               (excl. 3      at the
                               molar)     department

   1         S        12         23        4 years         14

   2         S        18         26         1 1/2          16

   3         S        16         26        4 years         15

   4         S        16         26        4 years         15

   5         S         9         18        2 years         8

   6         S        12         24        6 years         3

   7         S        11         23        9 month         8

   8         F        14         19        9 years         1

   9         F        18         26        4 years         1

  10         F        14         23        2 years         9

Patient   Number of     Number of        Age         Total
  no.     visits in    appointments    patient     number of
          department       for         received    prosthesis
                        adaptation    his first     set made
                                      prosthesis    (age in

   1          59            1             4        3 (8, 14)

   2          42            5             5          3 (10,

   3          46            7             9        3 (13,16)

   4          53            2             5            4

   5          43            7             5          2 (9)

   6          17            4             8           1 *

   7          8             3             9            1

   8          24            3            (#)         1 (a)

   9          7             1             5          1 (a)

  10          24            6             6        2 (8) (b)

Patient    Composite    Orthodontic     Status
  no.     restoration    treatment      at time
          of incisors    (yes/no)      of report
           (yes/no)     and duration

   1          Yes          Yes (4          F

   2          Yes            No            F

   3          No           Yes (7          F

   4          No           Yes (7          F

   5          Yes          Yes (2          T

   6          No           In the          T

   7          No        Yes (still)        T

   8          No         Treatment        ST

   9          Yes        Treatment        ST

  10          Yes          In the         S/T

# = the first prosthesis was not made at the department; * =
prosthesis only made in the mandible due to eruption of permanent
incisors in the maxilla; (a) = the patient received one set of
prosthesis at the department and then the treatment was terminated by
the family; (b) = patient received two sets of prosthesis, but never
used either of them. F = finished treatment due to age; T = still
being treated; ST = stopped treatment due to other reasons (see text);
S-T = the treatment was originally stopped by the family; however the
patient is now older, more motivated for treatment, and will receive
another opportunity soon.

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Author:Lexner, M.O.; Almer, L.
Publication:European Archives of Paediatric Dentistry
Article Type:Report
Date:Dec 1, 2009
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