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Case report: unclassified syndrome involving dental enamel, dentine and lack of tooth eruption.


The TAKO-centre is a National Resource Centre for Oral Health in Rare Medical Conditions. Patients are referred from the whole country of Norway for diagnosis, treatment planning and advice to local dentists. Some patients are also given treatment at the centre by a multi-professional team.

One of the advantages for the patients is to obtain a correct diagnosis and to be able to meet others with similar oral health problems. For adults it is also important to get a specific diagnosis in order to obtain social insurance support for treatment. Unfortunately, in some cases, a specific diagnosis is not found, and the patient is left with no other similarly affected people to relate to.


In the case to be described, no certain diagnosis has been determined, in spite of extensive literature searches, having shown the case several occasions around the world and writing to various specialists within the field. Genetic disturbances of dental development, dysplasia of enamel and/or dentine such as amelogenesis and dentinogenesis imperfecta are well known. Furthermore, pathologies of the dental follicle, interfering with tooth eruption have been reported [Kim et al., 2008]. Regional odontodysplasia, also described as ghost teeth, has been described [for overview see Crawford and Aldred, 1989]. Shah and Gupta [1998] reported a case of a generalized odontodysplasia affecting both the primary and the permanent dentition in an 8-year-old girl. General odontodysplasia, as in the case of Shah and Gupta is, a very rare finding involving large pulps and short roots of the whole dentition, however, unlike our case, the teeth erupted.

In a publication by Williams and Ogden [1988], the progress over 6 years of two brothers with unerupted permanent dentitions was reported. The findings described were somewhat similar to our patient, but the brothers had no systemic conditions and both boys had posterior open bites. To our knowledge, a case like the one described herein, involving enamel and dentine dysplasia, lack of tooth eruption and deterioration of unerupted teeth with a complex medical history has not been described previously.

Case report

The patient has been treated at the TAKO-centre since she was 5-years-old when she was first referred by her general dental practitioner for problems with tooth eruption. She was born in 1987, weighing 4,310 g to healthy unrelated parents. Her mother was hospitalized one month prior to giving birth due to irregular foster sounds. Shortly after birth, irregular breathing was observed and at 2.5 months, the baby was operated on for a right diaphragm hernia.

Medical history. Two months later, she was again hospitalised due to acute respiratory problems. An RS-virus infection was diagnosed, and she received treatment on a respirator and recovered. After another two months, radiographs revealed high position of the right diaphragm, and she again underwent surgery for this problem. Thereafter, she had several infections with respiratory problems and short periods of hospitalisation. About the age of 2 years, she suffered from bacterial H. Influenza meningitis. Thereafter, she developed severe headaches.

A medical practitioner saw her regularly and growth retardation was noted. At 3-years-old, she was 88 cm, -2 SD below the mean. She was operated on for nasal polyps at that time, improving her sleep apnoea. Growth thereafter was steady, but she remained short for her age. At 5 years, liver function, cortisol and growth hormone levels were examined and found normal, as were the results the following year. At 11 years she was 125 cm, 4.5 cm below the 2.5% percentile. At 19 years old, she was 150 cm (parents' height 170 and 185 cm).

Apart from the shortness of height her general physical development was normal; she could sit without support at 6 months, walk at 10 months and spoke well at 2 years. She always did well in school. At 9 years of age, she was diagnosed with classical migraine, and started medication with beta-blockers. She was evaluated for ectodermal dysplasia at the age of 11, but no signs of sweat gland anomaly, dry skin, sparse hair or fragile nails were noted. Due to her diaphragmatic hernia, she developed scoliosis and was operated on for this condition in 2005.

In 2005, a DEXA Bone Densitometry analysis was carried out, and mild hip osteopenia was demonstrated. All bone activity indicators were normal. Short stature and short thumbs were the only indicators of a skeletal abnormality. Recently, as her lung capacity was only 60%, her pectus excavatum was surgically corrected, which it is hoped has improved her oxygen uptake.

Dental development. At 10 months of age the first primary tooth erupted. It was yellow and small. She was referred to a paediatric dentist at 3-years-old as she was regularly affected by episodes of pain and abscesses around her primary teeth. These were brown and lacked enamel. Radiographs taken in 1992 showed large pulp chambers and somewhat diffuse images of permanent teeth were observed on orthopantomogram radiographs (OPGs).


Several primary teeth were treated with Vitrebond and others were extracted. At 6.5 years of age, teeth 53, 61, 62, 63, 64, 75 and 85 were extracted. With time, most of her primary teeth had to be extracted as none of them were shed naturally (Figs 1 and 2). She received her first full dentures when she was 10 years old. Some of her permanent teeth did finally erupt: 32, 31, and 41 were brown and visible in her mouth under her full denture until she was treated with dental implants. Tooth 36 erupted partly, but the lack of enamel and the soft dentine resulted in a poor quality tooth that had to be extracted, as also happened to 46. In the maxilla, 13 and 24 erupted partially and were endodontically treated (Figs 3-5).






Over the years, the patient has suffered from an overwhelming number of episodes of swellings and pain around her teeth. This has resulted in many days away from school, mainly because the dentures did not fit when the gingiva were swollen. It became apparent that pain in the oral cavity, migraine and lower back pain, or the fear of developing such pain in a school setting, kept her away from school.


During the spring of 2007, several teeth in the anterior maxilla had to be removed, and the patient underwent implant surgery during the fall/autumn of 2007 (Fig. 6). Ideally, we would have liked to have waited until she had finished college, but there was concern of losing too much bone, and thereby making implant surgery more difficult. Therefore, 5 Astra implants (Osseospeed[TM] 3.5S x 11 mm) were placed in the maxilla. Thereafter the patient experienced severe pain from the molar region of the left maxilla and 65, 26, 27 and 28 were removed. Also the follicles and dense bone from the area were removed and sent for histological analysis. The pathology report described fibrous connective tissue with epithelial inclusions indicating a hyperplastic dental follicle as well as vital bone tissue with mild marrow fibrosis. The permanent teeth removed totally lacked enamel (Fig. 7). A permanent implant supported fixed porcelain prosthesis was installed in the spring of 2008.



In the mandible, it was evident from radiographs that the tooth crowns gradually became resorbed, especially in the premolar regions. As pain in the mandible kept her away from school during the fall/autumn of 2008, another 4 dental implants were installed in the very narrow alveolar ridge (Nobel Biocare, TiU MKIII 3.3 x10 mm). The permanent teeth 32, 31, and 41 were extracted and implants were placed in that region. To provide a sufficient number of implants to support a full arch denture or bridge, some of the implants were partly placed in the dentine of some of the retained teeth (Fig. 6). These ankylosed retained teeth were not removed, as very limited residual bone would have remained for later implant installation. An abutment operation was performed in February 2009 and a full acrylic resin bridge was placed on these implants (Fig. 8). Very little pain has evolved from this treatment.

She has been genetically tested for dentinogenesis imperfecta, but it has proved negative. Mutations in genes involved in enamel (AMELX, ENAM, MMP20, and KLK4) identified, as possible causes of amelogenesis imperfecta, have not been tested.


Other aspects of care. The lack of a specific diagnosis has strongly affected the life of this patient. Her dental problems have only been shared with her mother and the personnel at the TAKO-centre. This approach worked very well as long as she could wear her dentures and go to school, but as oral infections and swellings occurred more and more often, preventing her from wearing dentures and going to school, she became increasingly unhappy. During implant surgery, sta developed an acute depressio n, and she had to undergo psychiatric treatment. This has made us aware of the enormous amount of pressure put on a young individual totally alone with her pain and worries and facing decades of oral treatment and rehabilitation.


As described above, some of the implants in the mandible were partly placed in the dentine of retained teeth. Experience from animal studies and clinical work has indicated a good outcome for this procedure as long as the implants are placed partly in just the dentine of retained teeth and not in the pulpal tissue [Haanaes HR, personal communication, 2009].

The case has been shown to clinicians and researchers in many countries in an attempt to provide the patient a specific diagnosis. No one has recognized the syndrome. Certainly, some of the findings are similar to known developmental defects, such as lack of enamel, crown resorption, and delayed eruption that may be associated with severe amelogenesis imperfecta (AI). Accordingly, Collins et al. [1999], suggested that some of the features associated with AI such as decreased enamel density and crown resorption, result from abnormal enamel formation, whereas other features like abnormal eruption and pulp calcification, may occur as a result of expression of genetic mutations in cells other than ameloblasts. As some cases of amelogenesis imperfecta and nephrocalcinosis have been described [Normand de la Tranchade et al., 2003], this patient's kidneys were examined, but found to be normal. Soft dentine can be associated with dentinogenesis imperfecta, which was not found. Williams and Ogden [1988] described two brothers with similar dental findings to our patient, but no complicating medical history.

Normal formation and developmental defects of the human dentition has been reviewed by Wright, [2000]. An interesting condition commonly associated with tooth eruption defects is cleidocranial dysplasia (CCD). In CCD, formation and erup tion of the primary dentition is generally normal, but multiple supernumerary teeth are common and the permanent dentition typically has severe eruption problems, possibly due to a defect in the abnormal osteoclastic and resorptive process of the alveolar bone. This feature is similar to those in our patient. However, no other findings of CCD are present.

Defective regulation of MMPs mediating connective tissue remodelling may be responsible for abnormal tooth eruption associated with hyperplastic dental follicles [Kim et al., 2008]. Indeed, hyperplastic follicles were identified in this case. Skeletal growth retardation and possibly her short thumbs are consistent with bone dysplasia, indicating mutations in more than one gene. The low resistance to infections primarily expressed as upper and lower respiratory tract infections during her first years, and multiple oral infections throughout her childhood and late adolescence, may indicate some kind of immune defect, but no findings have sustained that.


This case report concerns a rare and apparently un-named syndrome affecting both primary and permanent teeth. This paper has been written with aim of gathering views as to the aetiology of her problem, with a hope of finally arriving at a definitive diagnosis.


Crawford PJ, Aldred MJ. Regional odontodysplasia: a bibliography. J Oral Pathol Med 1989;18:251-63.

Collins MA, Mauriello SM, Tyndall DA, Wright JT. Dental anomalies associated with amelogenesis imperfecta: a radiographic assessment. Oral Surg Oral Med Oral Pathol Oral Radiol Endod1999;88:358-64.

Kim SG, Kim MH, Chae CH, Jung YK, Choi JY. Downregulation of matrix met alloproteinases in hyperplastic dental follicles results in abnormal tooth eruption. BMB Rep 2008;41:322-7.

Shah N, Gupta YK. Generalized odontodysplasia--a case report. J Indian Soc Pedod Prev Dent 1998;16:40-3.

Normand de la Tranchade I, Bonarek H, Marteau JM, Boileau MJ, Nancy J. Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. J Clin Pediatr Dent 2003;27:171-5.

Williams SA, Ogden AR. Failure of eruption associated with anomalies of the dentition in siblings. Pediatr Dent 1988; 10:130-6.

Wright JT. Normal formation and development defects of the human dentition. Pediatr Clin North Am. 2000;47:975-1000.

J.L. Jensen *,**, E. Ambj0rnsen*, H.R. Haances**, K. Storhaug*.

*National Resource Centre for Oral Health in Rare Medical Conditions. Lovisenberg Diakonale Hospital; **Dept. of Oral Surgery and Oral Medicine, Faculty of Dentistry, University of Oslo; Oslo, Norway.

Postal address: Dr. J.L. Jensen, Department of Oral Surgery and Oral Medicine, Faculty of Dentistry, University of Oslo,

PO Box 1109, Blindern, 0317 Oslo, Norway.

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Article Details
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Author:Jensen, J.L.; Ambjornsen, E.; Haanoes, H.R.; Storhaug, K.
Publication:European Archives of Paediatric Dentistry
Article Type:Case study
Geographic Code:4EXNO
Date:Dec 1, 2009
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