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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 6  |  Issue : 2  |  Page : 124-128

Ectodermal dysplasia with total anodontia: Case report with review


1 Department of Dentistry, AIIMS, Jodhpur, Rajasthan, India
2 Department of Paediatrics, AIIMS, Jodhpur, Rajasthan, India

Date of Web Publication6-Jan-2017

Correspondence Address:
Ankita Chugh
Department of Dentistry, AIIMS, Jodhpur - 342 005, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-6360.197777

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  Abstract 

Ectodermal dysplasias (EDs) are rare hereditary disorders characterized by the abnormal development of certain tissues and structures of ectodermal origin. The condition is important for dentists as it affects teeth resulting in hypodontia or anodontia. Affected young children with anodontia face both functional and esthetic problems due to lack of teeth. Restoration of vertical height and teeth with prosthesis will improve appearance and thus boost their self-confidence. We report a case of hypohidrotic ED with total anodontia in a 5-year-old boy who was successfully rehabilitated with conventional complete dentures in both maxillary and mandibular arches. The aim of the treatment was to improve psychological development apart from promoting better functioning of the stomatognathic system.

Keywords: Anodontia; complete dentures; dental implants; ectodermal dysplasia


How to cite this article:
Chugh A, Gupta N, Chugh VK. Ectodermal dysplasia with total anodontia: Case report with review. Indian J Multidiscip Dent 2016;6:124-8

How to cite this URL:
Chugh A, Gupta N, Chugh VK. Ectodermal dysplasia with total anodontia: Case report with review. Indian J Multidiscip Dent [serial online] 2016 [cited 2019 Sep 22];6:124-8. Available from: http://www.ijmdent.com/text.asp?2016/6/2/124/197777


  Introduction Top


Ectodermal dysplasias (EDs) are a heterogeneous group of disorders associated with developmental defects of ectodermal structures. Clinically, ED can be broadly classified as hypohidrotic (X-linked recessive) and hidrotic (autosomal inherited) types. Anhidrotic (hypohidrotic) ED (EDA) also known as Christ-Siemens-Touraine syndrome is the most common ED (80%), and it affects males and is inherited through female carriers. [1],[2] It is a triad of sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat due to lack of sweat glands (anhidrosis or hypohidrosis). Although ED patients have a normal life expectancy and intelligence, if it gets unrecognized in early infancy hyperthermia due to the lack of sweat glands may lead to brain damage or death. Anodontia, which represents the congenital absence of all teeth in the primary dentition and/or the permanent dentition, is a rare condition. The incidence in male is estimated at 1 in 100,000 births; the carriers-incidence is probably around 17.3 in 100,000 women. [3] The lack of teeth and special appearance were reported as the major concerns in EDA patients. The course of treatment in such patients is to restore function and esthetics of the teeth normalize vertical dimension and support the facial soft tissues.


  Case Report Top


A boy of 5 years and 6 months of age was referred to the Pediatric Clinic of All India Institute of Medical Sciences, Jodhpur, for upper respiratory chest infection. History ascertained that he was born at 40 weeks gestation by a normal delivery. At birth, patient's weight was 2665 g and his length was 48.5 cm. During neonatal period, he was admitted with fever, respiratory difficulty, and pyomeningitis. He had two episodes of convulsions for 1-2 min duration at that time. Throughout early infancy and childhood also, he had complaints of recurrent chest infection. He was admitted at 2 years age twice for bronchial asthma and bronchopneumonia. His blood investigations showed a persistent anemia with Hb 7g%, with mean corpuscular volume 67.12 μm 3 , mean corpuscular hemoglobin 17.82 pg/cell and red cell distribution width 25.41 μm. Skin biopsy in 2013 reported hypohidrotic ED. The patient's father and mother were normal and not consanguineous. His elder sister was also normal, and none of the parent's relatives were known to have a similar condition.

At first visit, he showed a senile facial appearance with large protruding eyes and fine sparse hair on the scalp with scant eyebrows and eyelashes. In addition, he showed a prominent forehead, a saddle nose, sunken midface, and everted lips with an overall old man appearance [Figure 1]. The skin of the body was dry and atrophic and loose.
Figure 1: Preoperative

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Intraoral examination revealed edentulous condition [Figure 2]. The alveolar ridges were atrophic. The color of alveolar mucosa and oral mucosa was normal. The flow of saliva was observed in the floor of oral cavity. Panoramic radiographs and cephalometric radiographs revealed the complete absence of teeth or tooth buds and aplasia of the alveolar processes of the maxilla and the mandible [Figure 3]. From these manifestations, we diagnosed this case as anodontia with hypohidrotic ED. To restore the oral function, the full dentures were constructed by a modified conventional approach. The procedure of fabricating the dentures was as follows:
Figure 2: X-ray

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Figure 3: Lower edentulous ridge

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  1. Primary impressions were made with alginate material using selected stock tray for children
  2. The customized special trays were made with tray resin
  3. Final impression taking was performed after border molding with zinc oxide eugenol paste [Figure 4]
    Figure 4: Upper edentulous ridge

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  4. The wax rims were made on the working casts
  5. At the occlusion record, the horizontal jaw relation was determined without using the facebow, and the proper vertical dimension and freeway space were established. The vertical dimension of occlusion was first determined by measuring face height in respiratory rest position
  6. Wax dentures were constructed with acrylic primary teeth
  7. Wax dentures were adjusted in the mouth
  8. The dentures were made of heat-cured acrylic resin and relined.


At 5 years and 8 months of age, the full dentures were completed and inserted [Figure 5]. After insertion of the dentures, his facial appearance was improved by alteration of the lower facial portion [Figure 6] and [Figure 7]. The patient and his father were instructed that the dentures should be handled with care, worn at all times except while brushing and sleeping, and washed with tepid water while brushing. The patient adapted well to the upper denture, however, was initially uncomfortable with lower one. After repeated counseling and minor readjustments, he got adapted to it.
Figure 5: Dentures in place

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Figure 6: Postoperative smile

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Figure 7: Postoperative

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  Discussion Top


Pinheiro and Freire-Maia [3] categorized 160 clinically and genetically distinct hereditary EDs. The disorders requiring differential diagnosis were congenital insensitivity to pain with anhidrosis, incontinentia pigmenti, ectrodactyly-ED clefting syndrome, Rapp-Hodgkin syndrome, and Ellis-van Creveld syndrome. [4],[5],[6] They could be ruled out because of sensitivity to pain, regular color of skin, normal fingers, normal palate, and normal limbs, respectively. A typical clinical presentation of EDA cases usually leads to the diagnosis. [7],[8],[9] The most characteristic findings are the reduced number and abnormal shape of teeth with the delay in teething often the first step in the diagnosis. Upper incisors and cuspids are always conical or pointed. Taurodontism frequently on the second deciduous molars is a common feature. In cases of hypodontia, teeth in maxilla are more than mandible usually. A panoramic radiograph (orthopantomogram ) done at about 4 years of age can confirm the diagnosis because teeth if any can be expected to be visible on radiographs at these ages. [10] Primary teeth can also be visible on radiograph at birth. Radiographically, the teeth appear abnormal in shape and structure. The enamel layer is thin, and the cervical area of the tooth is constricted. Enamel is rarely hypoplastic. Despite missing osseous and dental tissue, these patients have surprisingly normal facial structures. However, in nontreated patients, craniofacial deviations increase with advancing age with a tendency toward a Class III pattern with anterior growth rotation. The cephalometric findings show reduced facial dimensions, decreased lower facial height, variable pattern in facial widths, the maxilla has been relatively more retruded than the mandible, the nasal alar width, and mouth width are significantly smaller. [5]

At infancy and childhood, scaling of the skin gives a premature or an "old man" facies look. Both scalp and body hairs are sparse with the lack of eyebrows and eyelashes. However, beard and mustache hair are normal. The forehead appears square with frontal bossing and prominent supraorbital ridge. The nasal bridge is usually depressed giving a saddle nose appearance. Overall, the midface is also depressed giving it a "dished-in" appearance. The chin may be pointed, and the lips everted and protuberant.

Many patients complain of dry mucous membranes in mouth and nose. Dryness due to reduced salivary secretion has also been reported in some EDA patients. There is a reported absence of mucous glands in the pharynx, larynx, trachea, and bronchi which predispose them to respiratory infections. [10],[11]

About half of the affected individuals exhibit mild fingernail abnormalities and nail dystrophy. Slow nail growth and split nails are most often reported. A few individuals had a longitudinal ridging, thinning, and superficial peeling. Nail problems occur more frequently in older individuals. This suggests that the nail beds are more susceptible to progressive injury with age. Toenails were generally normal. Most individuals report dry skin. Affected individuals have a smooth, almost velvety skin texture. The skin of patients also seems to be "thinner" than expected for age. Some individuals only sweat in certain areas on their body. Common sites of sweating include palms, soles, and axillae. Because of the reduced number of sweat glands, there is a danger of hyperthermia.

Subcutaneous fat is often reduced, and around 30% of the boys have abnormalities of the breast with absent or accessory nipples. Episodes of hyperpyrexia and severe respiratory infections are life-threatening components in EDA. After the first critical years of life, the patients experience a general improvement in health. To identify possible female carriers, two methods of assessment of sweating have been developed. The first sweat test is performed on the backs of the carrier female and gives a V-shaped pattern of streaks that refers to the lines of Blaschko. [5] The other method of assessing sweat pores in female carriers is to make counts of the sweat pores along ridges on the fingertips or palms, but there are methodological difficulties. The test is regarded as positive, if several areas of at least 1 cm diameter are clear of active sweat glands, by an asymmetry between the two sides or if a complete absence of sweating is found. The value of the test is limited due to temporary functional differences of sweat glands (a patchy pattern may also be present in normal individuals). Second, the density of sweat pores may vary among normal individuals and a low mean number may lead to false results. Combination of both dental examination and sweat testing enhances clearly the chances of making a correct diagnosis, namely of identifying female carriers of XLHED. In a substantial number of carriers, no signs of EDA are found. The calculation of the risk of being a carrier may then be based on the family history and pedigree information. The mapping of a gene for X-linked EDA has given new possibilities for the detection of carriers of XLHED by molecular genetics. [5] This often allows female carriers in a family to be identified with a high degree of accuracy.

Treating children with ED present many and different clinical problems from early childhood through adolescence and also present a lifelong need for maintenance care and revisions. For the patients as well as the dentists, tooth agenesis and its secondary effects on growth and development of the jaws are often the most significant clinical problem. With the decreased lower facial height, the course of the treatment is to restore function and esthetics of the teeth normalize the vertical dimension and support the facial soft tissues. As long as there are no physical, psychological, or social burdens, no treatment is necessary. However, early placement of partial or full dentures is commonly recommended from the age of 2 or 3 years onward for reasons. Restoration of facial height improves both facial esthetics and speech, but it may lead to a fastened bone destruction of an already esthetic hypoplastic alveolar process as the middle of the upper jaw is covered, and it blocks the sutural growth.

The denture when made requires periodical modification as rotational jaw growth changes both the alveolar, occlusal, and basal dimensions. In children, breakage and even loss of removable prosthesis are quite common. They have also a limited retention and stability.

There is no definitive time to begin treatment, but according to Pigno et al., an initial prosthesis should be delivered before school age of the patient. According to Kupietzky and Houpt, [10] it is feasible to fabricate a denture for a patient as young as 3 years of age. As the child grows, the denture will have to be modified and replaced because it is indicated in the longitudinal studies of anodontia that the growth of jaws is independent of existence of teeth.

Replacements will be needed at least 3 times between the period of early and late mixed dentition and permanent dentition. When the patient is in the last stage, the removable prosthesis may be replaced by a fixed type restoration using osseointegrated implants.   Guckes et al. [11] recommend that this approach should be postponed until age 13 because of possible implant movement caused by jaw growth.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Naveen Kumar M, Srinivas P, Ramadevi S, Raghavendra Prasad S, Ajaykumar P, Sudhakar M. Hypohidrotic ectodermal dysplasia with anodontia: A rare case-rehabilitation by prosthetic management. JIAOMR 2012;24:342-5.  Back to cited text no. 1
    
2.
Ladda R, Gangadhar S, Kasat V, Bhandari A. Prosthodontic management of hypohidrotic ectodermal dysplasia with anodontia: A case report in pediatric patient and review of literature. Ann Med Health Sci Res 2013;3:277-81.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
3.
Pinheiro M, Freire-Maia N. Ectodermal dysplasias: A clinical classification and a causal review. Am J Med Genet 1994;53:153-62.  Back to cited text no. 3
    
4.
Ohno K, Ohmori I. Anodontia with hypohidrotic ectodermal dysplasia in a young female: A case report. Pediatr Dent 2000;22:49-52.  Back to cited text no. 4
    
5.
Mortier K, Wackens G. Ectodermal dysplasia anhidrotic. Orphanet Encyclopedia. 1 st ed. Belgium; 2004. p. 1-6.  Back to cited text no. 5
    
6.
Shashibhushan KK, Viswanathan R, Sathyajith Naik N, Subba Reddy VV. Hypohidrotic ectodermal dysplasia with total anodontia: A case report. J Clin Exp Dent 2011;3 Suppl 1:e352-5.  Back to cited text no. 6
    
7.
Kaul S, Reddy R. Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: Case report. J Indian Soc Pedod Prev Dent 2008;26:177-81.  Back to cited text no. 7
[PUBMED]  Medknow Journal  
8.
Gupta S, Tyagi P. Prosthodontic management of anhidrotic ectodermal dysplasia. Indian J Dent Res 2011;22:348-51.  Back to cited text no. 8
[PUBMED]  Medknow Journal  
9.
Farrington FH, Fete TJ. Treatment options for preschool children (0-6 years). In: Parameters of Oral Health Care for Individuals Affected by Ectodermal Dysplasia Syndromes. 2nd ed. Indiana: National Foundation for Ectodermal Dysplasias; 2007. p. 1-28.  Back to cited text no. 9
    
10.
Kupietzky A, Houpt M. Hypohidrotic ectodermal dysplasia: Characteristics and treatment. Quintessence Int 1995;26:285-91.  Back to cited text no. 10
    
11.
Guckes AD, Brahim JS, McCarthy GR, Rudy SF, Cooper LF. Using endosseous dental implants for patients with ectodermal dysplasia. J Am Dent Assoc 1991;122:59-62.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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