Berg en Dal/Nijmegen

The Netherlands

May 14-15, 2009

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Welcome!

Dear colleagues, It is a pleasure to welcome you in Berg en Dal/Nijmegen, The Netherlands, to ED09: International Conference on the Multidisciplinary Management of Ectodermal Dysplasia and Severe Hypodontia. Building on the successes of the past meetings in Malmö (2002), London (2004) and Copenhagen (2006), this meeting is organized by the Radboud University Nijmegen Medical Centre, in collaboration with the Dutch Association for Prosthetic Dentistry and Orofacial Pain (NVGPT). During this ED09 conference the latest scientific achievements and most relevant knowledge on the management of ectodermal dysplasia (ED) and severe hypodontia will be discussed. A broad spectrum of topics is covered, including genetic aspects, impact on quality of life and (future) possibilities for management of ED and hypodontia. We hope to inspire both clinicians and researchers involved in the care. May this meeting lead to a better understanding of the disorder and a better treatment for the individuals with ED. We would especially like to thank the members of the international scientific advisory board and the representatives of the patients support groups for their input to the program. The local organizing committee,

Marijn Créton Willem Fennis Céleste van Heumen Ronald Pikaar Anita Visser University Medical Radboud University Radboud University Rijnstate Hospital University Medical Centre Utrecht Nijmegen Medical Centre Nijmegen Medical Centre Arnhem Centre Groningen

International Scientific Advisory Board Birgitta Bergendal (Jönköping, Sweden)

Prof. Nico Creugers (Nijmegen, The Netherlands) Prof John Hobkirk (London, United Kingdom)

Prof. Anne Marie Kuijpers-Jagtman (Nijmegen, The Netherlands) Prof. Inger Kjaer (Copenhagen, Denmark)

Prof. Ignace Naert (Leuven, Belgium) Hilde Nordgarden (Oslo, Norway)

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ED09

International Conference on the Multidisciplinary Management of Ectodermal Dysplasia and Severe Hypodontia Thursday, May 14th 2009

ED and oligodontia, where are we now? session chair: Nico Creugers (Nijmegen, The Netherlands) 9:00 Registration coffee/tea 9:30 Introduction and summary previous conferences. Birgitta Bergendal (Jönköping, Sweden) 10:15 Living with ectodermal dysplasia (ED). Mary K Richter (Mascoutah, USA) 10:45 Break 11:15 Implants in individuals with ED/hypodontia. What is (not) desirable and possible? Gert Meijer (Nijmegen, The Netherlands) 12:00 Lunch session chair: John Hobkirk (London, United Kingdom) 13:30 Diagnosis and management of ocular surface disease in ED. Thomas Kaercher (Heidelberg, Germany). 14:15 Signs and symptoms on oral mucosa and saliva in ED: consequences, treatment and

future perspectives. Arjan Vissink (Groningen, The Netherlands) 15:00 Break 15:30 Orofacial function in ED. Anita McAllister (Linköping, Sweden) 16:00 Poster presentations 17:00 End of session 19:00 Reception/Dinner

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Friday, May 15th 2009

ED and oligodontia, how to handle? session chair: Anne Marie Kuijpers-Jagtman (Nijmegen, The Netherlands) 9:00 Coffee/tea 9:30 Impact of ED on quality of life: how to measure? Finbarr Allen (Cork, Ireland) 10:15 Prosthodontic treatment planning in individuals with hypodontia: a focus on fibre

reinforced composite. Ronald Pikaar (Arnhem, The Netherlands) 10:45 Break 11:15 Orthodontic treatment planning with skeletal anchorage for individuals with

hypodontia. Hero Breuning (Nijmegen, The Netherlands) 12:00 Growing of teeth, future treatment for individuals with ED? Irma Thesleff (Helsinki, Finland) 12:45 Lunch

ED and oligodontia, where are we heading? session chair: Birgitta Bergendal (Jönköping, Sweden) 14:00 Genetic findings in individuals with ED/hypodontia. Axel Bohring (Münster, Germany) 14:45 Dis- and concordance of ED and hypodontia in twins.

Carine Carels (Leuven, Belgium) 15:15 Break 15:30 X-linked hypohidrotic ectodermal dysplasia - oral and genetic findings in 67 affected

males and female carriers. Michala Oron Lexner (Copenhagen, Denmark) 16:00 ED, can pre- or postnatal therapy be an option? Olivier Gaide (Geneva, Switzerland) 16:45 End of session 16:45 - 1800 Meeting patient support groups

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Dr Birgitta Bergendal

Introduction and summary previous conferences.

Summary:

Ectodermal dysplasias pose an ultimate challenge to the dental profession how to care for individuals born with no or few teeth. In 2002 we organized a first European conference on ED from an ambition to communicate new knowledge primarily to specialists in dentistry. We had some successful long-term experiences of treatment of a few patients during the years they grew up, using a multi-disciplinary approach and new methods like dental implants in their oral rehabilitation, and wanted to broaden our Scandinavian perspective. With an unconditioned support from Mary Kaye Richter and the NFED, sponsorship at governmental and industrial level, and devoted lecturers, the conference attracted around 200 participants. Before closing there was a unanymous wish for new meetings. Since then, two conferences on ED were held, in London 2004 and in Copenhagen 2006, and the realization that we need to further improve the management of individuals with ED have led to the meeting in Nijmegen 2009. The conferences are now international and the support groups from Europe and abroad have formed a network for co-operation. In rear view, much of what we earlier thought we knew has been revised. In research on diagnostics, genetics, management and rehabilitation in ED more has happened during the last decade than before the beginning of this century. The recognition of a broad spectrum of signs and symptoms calls for a broadening of our networks to include also medical specialists. We are confident that the future has many new discoveries to bring which will make a difference for people with ED. Curriculum Vitae:

Birgitta Bergendal became a specialist in prosthetic dentistry at the Faculty of Odontology, Karolinska Institute in Stockholm, Sweden in1978. Since 1982 she has been working as a prosthodontist and tutor in specialist education at the Institute for Postgraduate Dental Education in Jönköping, Sweden. From 1997 she is head of the National Oral Disability Centre for rare disorders at the Institute in Jönköping. Her main interest has been an interdisciplinary approach to habilitation and rehabilitation of children and young patients with need for prosthetic treatment. She has presented lectures and courses in the Scandinavian countries and abroad and has also written chapters in a number of textbooks. She was co-editor of the publication from the 7th consensus conference on ectodermal dysplasia at the Institute for Postgraduate Dental Education on ectodermal dysplasia in 1998. Her main focus of interest in research and publications is oligodontia and oral rehabilitation in rare disorders.

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Mary Kaye Richter

Putting a face on ED

Summary:

Although the ectodermal dysplasias were identified more than 150 years ago and much has been learned, particularly in the last 30 years, just how much remains to be learned is the focus of this presentation. While the understanding of some of the individual ectodermal dysplasia syndromes, the NFED’s patient database of more than 5,000 individuals suggests that nearly half do not have a precise diagnosis. Hypohidrotic ectodermal dysplasia, aka anhidrotic ectodermal dysplasia, has been thought to be the most common of the syndromes yet this is far from a homogeneous group, at least as far as many individuals identify them. Perhaps it would be better to say that HED is the most commonly recognized type of ED. However, efforts are being made to make better use of molecular diagnostics as well as to improve clinical diagnosis so that those without a diagnosis may soon have answers for their primary question, “what type of ED is this”. Information about a variety of ectodermal dysplasia syndromes will be included in the presentation along with preliminary outcomes from the International Classification Conference on the Ectodermal Dysplasias held in 2008.

Curriculum Vitae:

Mary K. Richter is the Executive Director of the National Foundation for Ectodermal Dysplasias (NFED) and has served in that capacity for more than 27 years. In addition to overseeing services to more than 5,000 children and adults affected by Ectodermal Dysplasia (ED) in 50 states and 64 countries, Ms. Richter has served as the Chairperson for the National Alliance for Oral Health, a coalition of professional and advocacy groups, as a member of the steering committee of the National Oral Health Information Clearinghouse and a member of the Partnership Network established to move forward recommendations embodied in the U.S. Surgeon General’s Oral Health Report delivered in 2000. Ms. Richter is a former member of the Board of Directors of the National Organization for Rare Disorders as well as the National Advisory Research Council at the National Institute for Dental and Craniofacial Research (NIDCR). She currently serves as vice-president of the Friends of the NIDCR and as a commissioner on the Council for Dental Accrediation. Her efforts to improve the health and well being of individuals affected by ED have been recognized by the Academy of Dermatology, the Society of Pediatric Otolaryngology, and with the first ever Advocacy Award presented by the Friends of the NIDCR at a celebration marking the 50th anniversary of the Institute. She has served on numerous committees devoted to oral health issues and research both nationally and internationally, has given innumerable presentations on the topics and has published more than a dozen articles published in a variety of journals.

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Dr Gert Meijer

Implants in individuals with ED/hypodontia. What is (not) desirable

and possible?

Summary:

In the oral habilitation of children with missing teeth, it is pivotal to strive for establishing a good situation from an aesthetic as well as a functional and psycho-social viewpoint with minimal replacement of the missing teeth by prosthetic treatment. This can be achieved by means of leaving deciduous teeth, or space closure by use of growth adapted treatment, i.e. strategic early extraction of deciduous teeth and guided tooth eruption or orthodontic treatment. Therefore, it is advantageous to diagnose agenesis of teeth as early as possible, particularly when many teeth are missing. Initially, a defensive approach must be applied to allow as much growth as possible before initiating the implant-assisted phase of treatment. It must be realized that, placed in alignment with adjacent teeth, endosseous implants do not participate in growth processes, resulting in an infraocclusion and multidimensional dislocation when compared with the developing teeth. In the nearly anodontic child, however, these problems can be neglected. The concept of quality improvement work and quality registries could be valuable approaches in finding a broader evidence base for the clinical management of children with agenesis of teeth and need for prosthetic treatment. Till now, recommendations on treatment in young individuals with tooth agenesis are based mainly on clinical experience.

Curriculum Vitae:

Dr. Gert Meijer is Oral and Maxillofacial surgeon and as such senior staff member at the department of Oral-Maxillofacial Surgery of the Radboud University Nijmegen Medical Centre in (head: Prof. dr. S. Bergé). His daily activities comprise the full range of the clinical field, with exception of the ablative surgery. He is specialised in reconstructive surgery. As an experienced lecturer, he focuses on subjects of bone reconstruction in combination with dental implant treatment. Furthermore, image-fusion, e.q. superimposing 3-D stereophotogrammetry on a cone-beam CT data set to allow optimal planning for endosseous intra- and extra-oral implants, has his full interest.

In addition, he is Associate Professor at the Department of Periodontology and Biomaterials Radboud University Nijmegen Medical Center (Head: Prof. dr. J. Jansen). Dr. Meijer has extensive experience in basic bone research, biologic behaviour of bone transplants, bone-biomaterial interface phenomena, bone cell cultures, osteoblast and osteoclast responses to biomaterials, bone bonding and biodegradation of biomaterials. He performed human and animal studies, possesses experience of interdisciplinary interfaces between academia & industry and biology & biomaterials science.

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Dr Thomas Kaercher

Diagnosis and management of ocular surface disease in ED.

Summary:

Ocular symptoms and signs are seen associated to ectodermal dysplasias, but at present they do not belong to the inclusion criteria of the disease group.

Methods: Patients with confirmed ectodermal dysplasia syndromes have been investigated ophthalmologically.

Results: Dry eye symptoms were seen in 94 % of the patients. Reduction of the eyebrows and lashes were detected in 94 %. Changes of the Meibomian glands proved to be even more frequent, when investigated through transillumination. Corneal changes with loss of visual acuity occurred later on in life, leading occasionally to amaurosis.

Conclusions: The alteration of the Meibomian glands proved to be the most reliable ophthalmological sign in ectodermal dysplasia syndromes. It is seen in children and is present in carriers as well. As the Meibomian glands are easily accessible and the transillumination can be performed in all age groups, the ophthalmological test is a valuable screening method for the disease group. The morphology of the Meibomian glands additionally may have importance of a staging of the disease group and for identifying carriers.

Curriculum Vitae:

Thomas Kaercher conducted his medical studies at the Heidelberg University, Germany. Further training at the University of London. Specialisation in ophthalmology at the University Eye Hospital of Heidelberg under Prof. W. Jaeger and Prof. H. E. Völcker. Registrar at the City Eye Hospital of Ludwigshafen. He is a consultant in Heidelberg with research projects and special interests in ocular surface disease. He serves on the scientific board of the German-speaking patient support group for Ectodermal Dysplasia.

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Prof Dr Arjan Vissink Signs and symptoms of oral mucosa and saliva in ED:

consequences, treatment and future perspectives.

Summary:

Mucosal dryness is a quite common phenomenon in ED. This dryness may lead to conditions as an increased susceptibility to oral infections and otitis media, cerumen impaction and nasal obstruction/crusting. Whole salivary secretion may be reduced too, which in turn may promote the development of dental caries and oral infections. A negative correlation between the number of missing teeth and unstimulated and stimulated whole salivary secretion rates has been reported. Finally, in a minor subset of ED patients, even hypoplasia and aplasia of the major salivary glands has been reported. The treatment of the oral symptoms related to ED mainly focuses on the treatment of the dental signs. Regarding oral dryness and its related complaints, treatment is less straight forward. As many of the ED patients are born with a dysfunction of the salivary glands, it is not uncommon that oral dryness is not a very outspoken complaint urging for treatment. This lack of outspoken complaints related to oral dryness also bears a risk that the family dentist is less focussed on the oral signs that accompanies a reduced salivary flow thus underestimating the need for an early aggressive preventive approach to reduce the risk on development of dental caries. Regarding the future, there is a focus on therapies as haematopoietic stem cell transplantation and administration of recombinant ectodysplasin A to correct the pathological features of ED. As the molecular aetiology of ED consists of mutation of the genes involved in the ectodysplasin-NF-!B pathway, it has been postulated that administration of ectodysplasin A might normalize odontogenenic abnormalities observed in ED. Indeed, intravenous administration of ectodysplasin A has resulted in a normal development of the teeth in dogs. Moreover, it even might become possible to regenerate malfunctioning salivary glands by stem cell transplantation as recently has been achieved in mice that suffered from irradiation injury to salivary gland tissue.

Curriculum Vitae:

Arjan Vissink graduated as a dentist at the University of Groningen, the Netherlands. In 1985, he defended his PhD thesis entitled ‘Xerostomia. Development, properties and application of a mucin-containing saliva substitute’. Between 1987 and 1992 he was a fellow of the Dutch Royal Academy of Sciences. During this period he studied the mechanism and the prevention of irradiation-damage to salivary gland tissue. Thereafter, he became a resident in oral and maxillofacial surgery. Since 1996 he is employed as an oral and maxillofacial surgeon at the University Medical Center Groningen. In 1999 he graduated as a physician. In 2003 he was appointed as a professor in Oral Medicine at the University of Groningen. His research focuses on oral medicine, reconstructive preprosthetic surgery and implant dentistry. Arjan Vissink has (co)authored many scientific publications and books.

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Dr Anita McAllister

Orofacial function in ED.

Summary:

An investigation of orofacial function was conducted at two family conferences in the US and Sweden by the presenter and Birgitta Bergendal. Orofacial function was screened in 46 individuals with ectodermal dysplasia syndromes using The Nordic Orofacial Test-Screening (NOT-S) protocol containing 12 orofacial function domains (maximum score 12 points). Results were compared to a reference sample of 52 healthy individuals. The age range for both groups was 3–55 years. Results showed that the total NOT-S score was higher in the ED group than in healthy individuals (mean 3.5 vs. 0.4; P < 0.001). The dysfunctions most frequently recorded in individuals with ED occurred in the domains chewing and swallowing, dryness of the mouth, and speech. Individuals with other ED syndromes scored higher than individuals with hypohidrotic ED. Implications and possible treatment options will be discussed.

Curriculum Vitae:

Anita McAllister graduated as a speech and language pathologist –SLP, in 1985 at the Karolinska Institute, Sweden and started working with stroke patients, primarily with dysphagia and dysarthria. In 1986 she started a fruitful collaboration with the hospital dentist Martha Björnström around this patient group. The developmental work was financed by external funding and by the community health care. In 2000 the formal inauguration of an Oral motor Center at Danderyd Hospital in Stockholm was held. She defended her PhD thesis in 1997 on perceptual, acoustic and physiological measurements of children’s voices. In 2003 she started working as head of the speech and language pathology education at Linköping University, a position she currently holds. In addition she has a part-time position at the University Hospital in Linköping primarily focusing on children with oral sensorimotor and articulatory problems. She has participated in the work regarding assessment of orofacial function within a Scandinavian network and a Stockholm based group. This has resulted in the publication of the Nordic Orofacial Test – Screening. She has published several articles on child voice and oral motor function and participated in the writing of textbooks in SLP. She is also a regular reviewer for several international scientific journals within the field.

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Prof Dr Finbarr Allen

Impact of ED on quality of life: how to measure?

Summary:

In Dentistry, as in other branches of Medicine, it has been recognised that objective measures of disease provide little insight into the impact of oral disorders on daily living and quality of life. Traditional measures of oral health status such as DMFT and BPE measure stages of disease processes. However, it is essential that patients’ perspectives on the impact of disease on function and psycho-social health are considered. A significant body of development work has been undertaken to provide health status measures for use as outcome measures in dentistry. In descriptive population studies, poor oral health related quality of life is associated with tooth loss. There is a less extensive literature of longitudinal clinical trials, and measurement of change and interpretation of change scores continues to pose a challenge.

By its very nature, severe hypodontia is likely to impact upon oral function and self-esteem. However, very little research data in relation to its impact on psycho-social well being is currently available. Furthermore, the benefit of extensive oral rehabilitation on oral health related quality of life is yet to be described. In this presentation, I will outline the methodological challenges involved in undertaking subjective assessment of oral health. In addition, the health gain versus economic cost equation will be considered.

Curriculum Vitae:

Dr. Finbarr Allen is currently Professor of Oral Rehabilitation and Prosthodontics, and, Dean of Dentistry at University Dental School and Hospital, Cork, Ireland. A graduate of the National University of Ireland, Cork, he worked in general dental practice for five years in Oxfordshire, UK, prior to completing a Masters degree in Fixed and Removable Prosthodontics at the University of Manchester, UK. After a period in junior hospital posts in Leeds Dental Institute, he completed higher specialist training in Restorative Dentistry and a PhD whilst a Lecturer in Restorative Dentistry at the University of Newcastle upon Tyne, UK. He has published extensively in the scientific dental literature (including 2 textbooks and 70 peer reviewed scientific papers). He has held visiting appointments at the Universities of Toronto, Hong Kong and Otago University (New Zealand). In addition to his research interests, he is co-ordinator of Prosthodontics teaching at undergraduate and postgraduate level in Cork Dental School. He also acts as consultant to the local area health service, and manages the implant referral and craniofacial prosthodontic clinics for the South of Ireland. His clinical interests are Prosthodontics, craniofacial rehabilitation and restorative treatment of the elderly patient.

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Ronald Pikaar

Prosthodontic treatment planning in individuals with hypodontia: a

focus on fibre reinforced composite.

Summary:

The management of the oral symptoms of individuals with ED and severe hypodontia is conducted with an interdisciplinary team. This team usually consists of a general dentist, a dental hygienist, an orthodontist, an oral surgeon and a prosthodontist. During the often long-lasting treatment period they endeavour to reach a functional and aesthetic outcome. A general time schedule of treatment modalities cannot be used: due to the variety of the oral symptoms an individual approach is necessary. Different types of prosthetic devices are indicated at different times of age, dependent on wishes and needs of the individual with ED or severe hypodontia. Thanks to the possibilities of adhesive dentistry an aesthetic and functional appearance can also be provided for young patients. The use of fibre reinforced composite fixed partial dentures is an example of a non invasive treatment: indication, fabrication and evaluation will be illustrated. Curriculum Vitae: Ronald Pikaar graduated as dentist in 1988 at the Radboud University Nijmegen. After his graduation he worked for several years as de locum dentist in several private practices. He started working at the centre for special dental care of the Radboud University Nijmegen Medical Centre in 1991, in combination with a private practice in Nijmegen. His field of interest is treating individuals with dental congenital disorders such as ED, severe hypodontia, cleft lip and palate and amelogenesis imperfecta. Since 2005, he is working in the centre for special dental care of the Rijnstate Hospital in Arnhem, in combination with a private practice in Dieren with special interest in adhesive dentistry and implantology.

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Dr Hero Breuning

Orthodontic treatment planning with skeletal anchorage for

individuals with hypodontia.

Summary:

In cases with multiple congenitally missing teeth, a correction off the dentition is needed to restore the esthetics and occlusion of the dentition. In indicated cases, pre-prosthetic orthodontic treatment will enable temporary or permanent prosthetic replacement of missing teeth.

Anchorage management during orthodontic treatment with fixed appliances can be a problem when several teeth are missing. If planned properly, the use of temporary anchorage devices such as Mini-screws and Mini-plates during orthodontic treatment can be a solution for the encountered anchorage problems. Efficient use of Mini-screws and Mini-plates will reduce prosthetic replacement of congenitally missing teeth. During this lecture, the indication and use of temporary skeletal anchorage devices (TAD’s) during orthodontic treatment in cases with multiple missing teeth will be demonstrated and discussed.

Curriculum Vitae:

Hero Breuning graduated as a dentist in 1977 at the University of Utrecht, the Netherlands, and specialised as an orthodontist the following 4 years at the same university. Then he started a private practice for orthodontics in Tiel, the Netherlands. In 2004 he defended his PhD thesis on intra-oral mandibular distraction during orthodontic treatment. In 2005 he received the Hamer Duyvenz award for best Dutch PhD thesis for the years 2004-2005. Currently he works in his orthodontic office in Tiel, treating mainly adult patients and patients who need a multidisciplinary approach. In addition, he works part-time as staff member at the Department of Orthodontics and Oral Biology Radboud University Medical Centre, Nijmegen, the Netherlands with a special interest in 3D Imaging, Skeletal Anchorage and Maxillofacial Distraction.

He published extensively on several topics, lectured worldwide on topics such as selfligating bracket systems, skeletal anchorage and bone distraction during orthodontic treatment. He is reviewer for the American Journal of Orthodontics and Dentofacial Orthodopedics, on topics such as Diagnosis, Treatment Planning, Skeletal Anchorage and 3D Imaging.

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Prof Dr Irma Thesleff

Growing of teeth, future treatment for individuals with ED?

Summary:

The process of tooth development is understood in great detail. Dozens of important genes and molecules are known which regulate the initiation and morphogenesis of teeth as well as the formation of the dental hard tissues. Also stem cells have been discovered in teeth and it is already possible to induce de novo tooth formation in mice. There is hope that the advancements in research may lead to novel and improved techniques allowing biological replacement of teeth in the future. For more information: Thesleff, I, Tummers, M.: Tooth organogenesis and regeneration. In: StemBook, 2009, http://www.stembook.org

Curriculum Vitae:

PhD, 1975 from the University of Helsinki. Professor and Chairman of the Department of Pediatric Dentistry and Orthodontics at the Institute of Dentistry, University of Helsinki, Finland, from 1990 to 2004. Since 1996 Professor and Research Director of the Developmental Biology Program at the Institute of Biotechnology of the University of Helsinki. Her research interest are Molecular regulation of the development of teeth and other ectodermal organs (hair, glands) and craniofacial bones. Use of mouse models, analysis of stem cells and signaling pathways. She published over 250 scientific publications in international journals.

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Dr Axel Bohring

Genetic findings in individuals with ED/hypodontia.

Summary:

The ectodermal dysplasias are a large, heterogeneous and growing group of disorders characterized by defects in morphogenesis of skin, sweat, sebaceous, submucous, and mammary glands, hair, nails and teeth. Numerous more or less distinct entities of ectodermal dysplasia including also syndromal forms and monosymptomatic oligodontia have been reported. Most of them are very rare and the cause is often unknown. This talk will address clinical course, genetic heterogeneity, and mutational spectrum in the most common forms of ectodermal dysplasia, intra- and interfamilial phenotypic variability, and the most consistent features discriminating between different entities of ectodermal dysplasia including syndromal forms.

Curriculum Vitae:

Axel Bohring studied medicine at the University in Halle/S., Germany. Fellowship in pediatrics at the University of Kiel. Assistant medical director of the Department of Pediatrics in Eutin from 1996-2002. During this period several scholarships for clinical genetic research at the Department of Genetics at the University in Salt Lake City, Utah, U.S.A. Since 2002 he is employed at the Institute of Human Genetics, University of Münster and has specialized in human genetics/ syndromology. His research focuses on ectodermal dysplasia and oligodontia. He serves on the scientific board of the German support group for Ectodermal Dysplasia.

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Prof Dr Carine Carels

Dis- and concordance of ED and hypodontia in twins.

Summary:

Twin studies have provided the basis for genetic and epidemiological studies in human traits and diseases. Human monozygotic (MZ) twins estimated to occur once in 250 live births, are considered genetically identical and any phenotypic discordance between them has been used to implicate the role of the environment. In recent literature however, this assumption is questioned and it has become clear that genetic as well as epigenetic factors can contribute to discordant outcomes in monozygotic twins, also for severe phenotypes. The causes of reduced concordance between MZ twins will be reviewed in terms of published cases of phenotypic and genetic discordance with emphasis on ED and hypodontia. Phenopypic discordances in monozygotic twins for ED and hypodontia, could be the result of late postzygotic genetic differences, but also of epigenetic differences like DNA-methylation or histone modifications. It was recently suggested that molecular mechanisms of heritability may therefore not be limited to differences in DNA sequence.

Curriculum Vitae:

Carine Carels graduated as Licensed in Dental Sciences (LDS) at the Catholic University of Leuven in 1980. She did her orthodontic specialist training in Leuven under the supervision of prof dr. A. Reychler†. During her training she received a grant from the National Fund for Scientific Research (NFWO-Belgium) in 1982 and started with research in the field of Oral Physiology, on which she did her PhD thesis in 1985. From 1985-1987 she spent 2 years as a Postdoc in the Orthodontic Department in Nymegen under the supervision of prof. dr. F.P.G.M. van der Linden. She is professor of Orthodontics in Leuven since 1987 and she currently is on a sabbatical leave in the St Radboud University in Nymegen, where she is taking courses in genetics and molecular biology. For the academic year 2008-2009 she is appointed as guest professor at the Department of Orthodontics and Oral Biology (Head: prof dr A-M Kuijpers-Jagtman). Her main research interests are in the field of dentofacial genetics, including the genetics and etiology of cleft lip and palate and hypo- and oligodontia. In November 2006 she received a honorary fellowship of the Faculty of Dentistry of the Royal College of Surgeons of England. She is also a member of the Angle Society of Europe.

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Dr Michala Oron Lexner

X-linked hypohidrotic ectodermal dysplasia - oral and genetic

findings in 67 affected males and female carriers.

Summary:

The overall aim of this study was to carry out a quantitative analysis of the general, craniofacial and oral deviations in affected males and female carriers with a known mutation in the EDA gene. We analysed the disturbances in tooth formation, saliva flow and composition, somatic growth, cephalometric analysis, genotype-phenotype correlation. Furthermore, we examined the X-chromosome inactivation pattern in female carriers. The final study group included 24 affected males and 43 female carriers. The analyses of the clinical symptoms showed that all affected males had multiple missing permanent teeth and tooth malformations. The female carriers had a significantly higher frequency of agenesis of permanent teeth, an increased prevalence of tooth malformations and reduced tooth size. The saliva flow and composition were altered in both groups. Examination of the somatic growth showed that the BMI values of the affected boys were mainly lower than the normative mean, but within normal range in the adult group. The head circumference was reduced, but only significantly in the female carriers. The analysis of the craniofacial morphology revealed that affected males, in particular, showed deviations in the craniofacial morphology. Sixteen different EDA mutations, nine not previously described, were detected. The MLPA analysis found a deletion of exon 1 in one female proband. No genotype-phenotype correlations were observed. The female carrier, as a group, did not exhibit a skewed X-chromosome inactivation pattern compared with controls; however, in two female carriers with pronounced clinical symptoms, in whom the parental origin of each allele was known, we found that mainly the normal allele was inactivated.

Curruriculum Vitae:

Assistant Professor, DDS, PhD at the Department of Paediatric Dentistry and Clinical Genetics, Copenhagen School of Dentistry, Faculty of Health Sciences, University of Copenhagen. Graduated as a dentist in 1994. From 1994-2003 Dentist working especially with children and adolescents. From 2003 Research assistant and clinical instructor for dentistry student, at the Department of Paediatric Dentistry and Clinical Genetics. From 2004-2007 PhD student at the same department. The PhD project with the title “Hypohidrotic ectodermal dysplasia- a nationwide clinical and genetic analysis” was defended in 2007. Articles published in international, peer reviewed journals.

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Dr Olivier Gaide

ED, can pre- or postnatal therapy be an option ?

Summary:

dentification of genetic mutations responsible for ectodermal dysplasias (ED) is paramount to our understanding of this family of diseases. It provides tools for both diagnosis and genetic counseling, thus bringing undisputable benefit to our patients. This essential achievement may come with a bonus: the possibility to devise a cure for some of these diseases. I will provide an overview view of the techniques available to correct a genetic disease, including gene therapy and "biologics". As EDs often impact on the development of the fetus, the feasibility of such therapies for pre- or post-natal treatment will be discussed. Finally, advances in the use of recombinant ectodysplasin A as a treatment of hypohidrotic ectodermal dysplasia will be presented as an illustration of the technological, biological, regulatory and financial challenges separating the bench from the bedside. And the answer to the question is yes for the mouse (pre- and postnatal), yes for the dog (post-natal only).

Curriculum Vitae:

Dr. Olivier Gaide is a specialist in dermatology and venereology working at the Geneva University Medical School, where his area of clinical expertise is pigmented skin tumors. Born in Switzerland, Dr. Gaide pursued most of his education and training there. He spent one year at the Phillips Academy in Andover, Massachusetts, where he got his American diploma. It is there that he developed a fascination for human physiology and fundamental research. Consequently, he studied medicine and biology at the universities of Lausanne and Zurich. During his MD-PhD, his work on the transcription factor NF-kappa B led him to study the function of Ectodysplasin A, a protein implicated in hypohidrotic ectodermal dysplasia. His current position as scientific senior registrar allows him to see patients and teach students (both MDs and PhDs), while leading his independent research group. He currently focses his reserach on skin tumor formation and the therapeutic potential of recombinant Ectodisplasin A.

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Poster presentations

by patient support groups:

Andrea Burk

German Ectodermal Dysplasia Support Group

www.ektodermale-dysplasie.de

Giulia Fedele

Associazione Nazionale Displasie Ectodermiche (ANDE)

web.tiscalinet.it/associazione_ande

Diana Perry

Ectodermal Dysplasia Society England

www.ectodermaldysplasia.org

Izzet Yavuz

Ectodermal Dysplazi Turkye

www.ektodermaldisplazi.com

Andrew Williams

OzED Australian Ectodermal Dysplasia Support Group

www.ozed.org.au

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Abstracts poster presentations

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Clinical Management of Ectodermal Dysplasia: Report of Cases

Adeeb Alomrani BDS. DMSc. King Fasial Specialist Hospital & Research Center, Riyadh, Saudi Arabia

Ectodermal Dysplasia is a genetic disorder in which there are congenital birth defects (abnormalities) of 2 or more ectodermal structures. Severity differs, even among people affected with the same type of ED. 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 the disorder so that appropriate treatment can be rendered to ensure the best quality of life for ED patients. It is also important to understand the genetic hereditary patterns so that the parents of the affected child can be counseled and better predict the chances that future offspring will be affected. Children with ED may have hypodontia or anodontia and are often treated dentally with conventional prosthesis which is focused only on the oral manifestation of the syndrome. This case report describes the management of an ED patient to provide improved esthetics, function, and emotional development. The treatment was planned in a multi-disciplinary clinic involving pediatric dentistry, orthodontics, prosthodontics and oral maxillofacial surgery for future dental habilitation and rehabilitation. A specially designed overdenture, a removable prosthesis of osseointegrated implants were constructed. Periodic recall visits were advised to monitor the dentures of implants during period of growth & development, and eruption of the permanent teeth.

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Hai Lan Feng Peking University School of Stomatology, China

Objectives: X-linked hypohidrotic ectodermal dysplasia (XLHED; MIM305100), the most common form of hypohidrotic ectodermal dysplasia (HED), is characterized by hypotrichosis, hypohidrosis and hypodontia. Affected males display noticeable inter- or intrafamilial variation in clinical manifestations. Female carriers may show mild or significant symptoms and signs, due to random X chromosome inactivation. Most individuals with XLHED harbour mutations in the EDA gene. In the present study we want to detect EDA gene mutation in 10 HED families and 3 sporadic male patients. Methods: We obtained DNA samples from 10 families and 3 sporadic male patients with apparently hypohidrotic ectodermal dysplasia. Screening of EDA gene was performed by direct sequencing of the entire coding region. Results: Seven EDA gene mutations were identified in 10 families, including cDNA 412 C>G, cDNA 1201 A>G, cDNA 1375 C>T, cDNA 709 G>A, cDNA 1287 G>A, cDNA 885 G>A and cDNA 494 del T. All of these mutations were from maternal origin. Three EDA gene mutations were identified in the sporadic male patients, including cDNA 1314 C>T, cDNA 1144 A>G and cDNA 856 del T. Conclusion: Our results confirm that EDA mutation is responsible for X-linked hypohidrotic ectodermal dysplasia, and indicate that mutations in the EDA gene are responsible for the phenotypes of HED of these patients. This work was supported by Chinese Ministry of Education 985 Project (985-2-035-39), Chinese Ministry of Education 211 Project and Natural Science Foundation of Beijing (7063099).

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Implant supported prosthesis in an edentulous boy with Hypohidrotic

Ectodermal Dysplasia – “A happy boy”. H. Gjoerup, L. Nyhuus; J. Buhl Aarhus University Hospital, Denmark

Aim

It is the aim of the presentation to report the prostethic treatment of a boy with hypohidrotic ectodermal dysplasia, to report the rationale behind the choices of treatment modalities, and to report the outcome of treatment experienced by the patient and his family. Case presentation

The boy was untreated until the age of 5 years. His oral functions were compromised in relation to speech and psychosocial aspects. In the following 6 years, he underwent prosthodontic treatment in three phases. 1. At the age of 5 years a set of complete dentures were made to enhance speech and social well-being. The lower denture was retained by 2 ball attachments. 2. At the age of 8 years the dentures were remade because of need for augmentation of vertical dimensions, better fit, and better aesthetics for an 8 year old with mixed dentition in the anterior region. 3. At the age of 10 years a new set of dentures were made. This time the upper denture was made as an overdenture supported and retained by 4 implants and a Dolder bar. The surgical procedure included bone grafting from the anterior ramus mandibulae. The boy’s subjective judgement of his oral health has been registered. The boy and his family experience great improvement in the functioning as well as the comfort of his prosthesis after insertion of implants. Conclusion

The prosthesis for edentulous boys with HED demand several adjustments and revisions, partly due to growth of the jaws, partly due to the psychosocial development of the child. The use of implant supported prosthesis seems to be a relevant treatment option in edentulous jaws of children with HED. The surgical procedure is more complicated in the upper jaw than in the lower. The short term results are good, objectively as well as subjectively. The long term stability of the implants has to be elucidated in the forthcoming years.

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Ectodermal Dysplasia: Early Aggressive Intervention?

Kenneth S. Kurtz, DDS, FACP Montefiore Medical Center/Albert Einstein College of Medicine, USA

The question of when and how to restore the dentition in syndromic children with hypodontia is somewhat controversial. Parameters of suggested care will be detailed, with particular attention to the construct of multidisciplinary care teams and the requisite parental and patient genetic counseling. Prosthetic treatment including conventional vs. implant supported prostheses will be outlined. Risk vs. benefit analyses will be reviewed, as the treatment vehicle of today may be obsolescent tomorrow. Limits of the existing database with regards to evidence-based treatment, and the complexity of informed consent for minor patients will be discussed.

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Oral rehabilitation with implant-supported overdenture in a child with

Ectodermal Dysplasia.

M. Montanari, F. Battelli, G. Corinaldesi, L. Sapigni, C. Marchetti, G. Piana University of Bologna, Italy

Introduction. Ectodermal Dysplasias are a heterogeneous group of inherited disorders characterized by dysplasia of tissues of ectodermal origin (hair, nails, teeth, skins and glands). Clinically, it may be divided into two broad categories: the X-linked hypoidrotic form and the hidrotic form. Hypohidrotic Ectodermal Dysplasia (H.E.D) is characterized by the triad oligo-anodontia, hypotricosis, hypo-anhydrosis (Christ-Siemens-Tourane syndrome). The clinical features include sparse, fine hair, missing or conical-shaped teeth, decreased sweat and mucous glands, hypoplastic skin, and heat intolerance with exercise or increased ambient temperature. Complete or partial anodontia and malformation of teeth are the most frequent dental findings. Early prosthetic rehabilitation has been recommended as an essential part of the management of HED because is important from functional, esthetic, and psychological standpoint. Conventional prosthodontic rehabilitation in young patient is often difficult because of the anatomical abnormalities of existing teeth and alveolar ridges. The conical shaped teeth and “knife-edge” alveolar ridges result in poor retention and instability of dentures. Moreover, denture must permit jaws expansion and a correct pattern of growth. Materials and Methods. Oral rehabilitation was provided to allow for normal physiological development and a corrected masticatory function. Panoramic film and TC 3D Accuitomo were performed and a resin model of mandibular bone of the patient was realized. Since conventional prosthetis show a reduced retention, two endosseous implants were placed with local anesthesia. At the age of 11 years two implants were inserted into anterior mandible in a child with anodontia to improve oral functions and to reduce psyco-handicaps. Despite a remarkable multi-dimensional atrophy of the mandibular alveolar process, the insertion of two tapered screw implants (SAMO Smiler BioSpark, diameter 3.8, length 10 mm) was possible and resulted in safe primary stability. After a submerged healing period of two month, the implants were exposed and abutment connection was performed. Implants were connected with an expansion guide that permits mandibular growth and prosthetic retention. A removable prosthesis was constructed with ball attachments. The amount of mandibular growth was followed and evaluated using the expansion guide and by cephalometric radiographs. Results. Early oral rehabilitation improves oral function, phonesis and esthetic, reducing social impairment. Mandibular growth in a sagittal and transverse direction showed no adverse effects on implant position. The fixtures advanced with the mandible, maintaining their original relationship with the bone. Treated patients showed normal cephalometric measurement. Early rehabilitation is able to prevent the prognatism of the mandibula. The expansion guide permits the growth of the mandible. Discussion. The mandibular rotation accompanying growth had not caused a significant problem relative to the angulation of the implants and prosthodontic occlusal plane. Implants can be successfully placed, restored and loaded in growing patients with Ectodermal Dysplasia.

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Prosthodontic Rehabilitation of an Ectodermal Dysplasia Case using Dental

Implants

Y.T. Ariffin1, F. Hanapiah2 1University of Malaya, Malaysia; 2Private Practice, Malaysia

Ectodermal dysplasia is a hereditary condition in which the second most common sign is hypodontia. In this case report, apart from presenting with hypodontia the patient has repaired bilateral cleft lip and palate, congenital heart disease and unilateral renal agenesis. Other characteristics can also be seen in the hair, nails, skin and the appendages. There is presence of two oral nasal communications at the underdeveloped pre-maxilla region. This report presents the clinical procedures involved in the prosthodontic rehabilitation of a 26 year old female patient being treated since 10 years ago. Treatment planning includes extraction of carious teeth, construction of a complete maxillary obturator and a lower partial denture in acrylic prior to placement of implants, followed by the construction of a definitive prosthesis of an implant-supported overdenture and obturator in the maxilla and an implant-supported complete lower denture.

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Full mouth rehabilitation of an ectodermal dysplasia patient with the dental

implants Afsaneh Shahrokhi Qazvin University of Medical Sciences, Tehran.

The Ectodermal Dysplasias (EDs) are a group of genetic disorders in which there are congenital birth defects of two or more ectodermal structures. ED is difficult condition to manage with prosthodontics due to the typical oral deficiencies and because afflicted individuals are quiet young when they are evaluated for treatment. This clinical report describes treatment of an 18 years old male patient who was affected by ED with dental implants. The chief complaint was the unaesthetic appearance of his dentition and inability to function. The intraoral examination revealed total mandibular and partial maxillary edentulism, unilateral open cleft palate and severe maxillary and mandibular atrophy with small, thin underdeveloped alveolar ridge. Carious lesions, dental plaque and calculus deposits were observed on the remaining maxillary teeth. The remaining maxillary teeth were considered for extraction due to poor prognosis and advanced periodontal disease. Orthopantomography and computerized spiral tomography revealed extreme maxillary atrophy with little remnant bone. Based on this finding we proposed full mouth rehabilitation using dental implant. Maximum number of eight osseointegrated implants was used for each arch to compensate for diminished alveolar ridge height, and the resultant reduced length of implant bodies. According to the patient problems and diagnostic set up, treatment planning for implant supported prosthesis included fabrication of a maxillary implant supported overdenture and a mandibular implant supported fixed prosthesis. Follow ups were performed after the first week, first month, sixth month, and first year following prostheses insertion. No complications such as speech impairments, esthetic, screw loosing or facture, or implant mobility were detected. The patient reported important improvements in oral function and self-confidence.

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The implant-supported mandibular overdenture;

A solution for a child with anodontia?

Anita Visser*, Margriet Hoff, Gerry M Raghoebar, Arjan Vissink University Medical Center Groningen, the Netherlands An 8 year old boy with ectodermal dysplasia had only 6 deciduous maxillary teeth and an edentulous mandible. As a result, he suffered from aesthetic and functional problems. The maxilla was already rehabilitated by removable partial denture with wire clasp arms and retentive composite resin extensions on the abutment teeth. Consideration was given to the fabrication of a conventional complete mandibular denture. The underdevelopment of the alveolar ridge and absence of the buccal vestibule, however, rendered this impractical. Although the placement of implants in patients who are still growing is not generally recommended, a decision was made, based on a study of the literature, to insert 2 implants in the intra-foraminal region as a support for an overdenture. Subsequently, an implant-supported mandibular overdenture on 2 ball attachments was fabricated. Two years after inserting the implants, no complications had arisen. The patient was satisfied with the functional and aesthetic results of the treatment.

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Ectrodactyly with Ectodermal Dysplasia; dental and radiographic implications G. Wicomb*1, L. Stephen2, P. Beighton3

1 VersTand junior Dental Practice, The Netherlands; 2University of the Western Cape,

South Africa; 3University of Cape Town, South Africa

Introduction: EEC syndrome is a rare, genetic disorder of ectoderm - mesoderm origin exhibiting variable phenotypic expression. The dental status and management of a boy aged 3 years with severe ectrodactyly of the hands and feet paired with ectodermal dysplasia has been assessed and documented. Clinical Management: The diagnosis of the EEC syndrome (ectrodactyly ectodermal dysplasia and clefting syndrome) was confirmed by molecular investigation. The affected boy had a full complement of primary teeth with severe dental caries, several anterior peri-apical abscesses, tooth mobility and enamel hypoplasia. He did not have labial or palatinal clefting. The dental implications of the condition have been reviewed with emphasis on the role of radiography as an adjunct for the determination of indications for dental management. The patient received endodontic treatment of several primary teeth, followed by the placement of anterior ceramic crowns under general anaesthesia. Because of the oligodontia in the permanent dentition it was decided to fully rehabilitate the primary dentition, where in normal circumstances a different treatment option could have been indicated. A week after the treatment the boy presented for a follow-up evaluation, all anterior peri-apical abscesses had now disappeared and mobility was zero. Routine three monthly assessment visits are to be scheduled. Conclusion: The dental management has been tailored for this child where enamel hypoplasia, severe dental caries and oligodontia are additional complications. The importance of the diagnostic nature of dental radiographs as an adjunct to the treatment of patients with oligodontia and ectodermal dysplasia is emphasized.

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Hypohidrotic ectodermal dysplasia with severe hypodontia: oral rehabilitation

through interdisciplinary management &

H. Awang University of Malaya, Malaysia. Ectodermal dysplasia (ED) is a hereditary condition characterized by abnormal development of the skin and associated structures (hair, nails, sweat glands and teeth). The dental anomalies can range from abnormally-formed teeth with a few teeth missing (hypodontia), or their total absence (anodontia). This report presents two siblings diagnosed with ED, who also have severe hypodontia, describing their clinical presentations and dental management. Abnormal-shaped teeth, severe hypodontia or their total absence, often have psychological consequences in affected individuals. Restorative treatment of sharp and conical teeth, followed by provision of a removable prosthesis, made much difference to the nine-year-old boy, as highlighted in this case. In addition, the spectrum of dental management can include orthodontic realignment of teeth present and provision of removable prostheses, as illustrated in the 12-year old female sibling. Definitive treatment may include utilisation of fixed or implant-supported prostheses. However, various approaches to restoring functions, aesthetics and to improve social interaction must be planned well, giving due considerations not only to the clinical manifestations but to the child’s stage of growth and development as well.

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Linkage to a new chromosomal region for autosomal dominant amelogenesis

imperfecta

H. Martens, I. Overdevest, M. van Geel en M.A.M. van Steensel Maastricht University Medical Center, the Netherlands

Introduction:

Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases characterized by defective development of tooth enamel. The clinical appearance varies from discoloration to loss of enamel function. Autosomal dominant, X-linked and recessive inheritance have been described. Material and Methods:

We ascertained a Dutch family with an apparently new autosomal dominant type of AI. Using microsatellites and 10K SNP-arrays, we performed respectively targeted linkage analysis to chromosomal regions already known to be associated with AI and genome-wide linkage analysis. Results:

Our data excluded linkage of the phenotype to any of the known candidate genes associated with AI. The genome-wide analysis showed linkage to chromosome 15q. Using additional microsatellite markers, we narrowed the interval down to 1.1 Mb. Discussion / Conclusion:

This study suggests that this type of autosomal dominant AI is novel and caused by an as yet unknown gene. Further analysis will follow to identify the causative gene. Identification of this gene can lead to new information on the development of tooth enamel.

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Prevalence and prevention of severe complications of hypohidrotic ectodermal

dysplasia during the first year of life

Gert Blüschke1, Kai-Dietrich Nüsken2, Holm Schneider1,2

1Medical University of Innsbruck, Austria; 2 University of Erlangen-Nuernberg, Germany

Children with ectodermal dysplasia (ED) are known to be at substantial risk of sudden death in infancy due to fatal hyperpyrexia. For hypohidrotic ED, mortality in early childhood was reported to reach 30%. To update this information published more than 20 years ago and to assess the prevalence of hyperpyrexia and possible neurological sequelae in affected infants, a cross-sectional postal survey was conducted among parents of children with ED. Retrospective questionnaires addressing perinatal variables and family characteristics, distinctive features of the patient and parental observations during his first year of life as well as typical diagnostic procedures were sent out to 100 parents registered with the German-Austrian-Swiss ED patient support group. Overall, 53% of parents returned completed surveys, identifying 51% (27/53) of children as patients with X-linked hypohidrotic ED, and 21% (11/53) as patients with autosomal hypohidrotic ED. Of those two groups of infants, 18% (7/38) had been born preterm and 42% (16/38) had been placed in an incubator after birth. Body temperature recording proved to be of utmost importance in neonatal management of the condition. In 95% of all patients with hypohidrotic ED, episodes of unexplained fever had been observed during the first year of life, most often related to warm clothing. Febrile seizures had occurred in 3.7% of infants with X-linked hypohidrotic ED but in 18% of patients with autosomal hypohidrotic ED. Speech delay and motor developmental retardation were reported for 11% and 27%, respectively (p<0.05). Prognosis depended on the type of the genetic defect, the total number of febrile seizures and the time point of ED diagnosis. All patients survived infancy. Other commonly reported ED-associated symptoms during the first year of life included dry, scaly skin (95%), delayed teething (97%) and ceruminal clots (61%), whereas frequent airway infections were observed only in 27% of infants with autosomal hypohidrotic ED but in 70% of patients with X-linked hypohidrotic ED (p<0.05). Early recognition of the disease was aided by consulting a paediatric dermatologist and undertaking DNA analysis without delay. Interdisciplinary management, adequate instruction of the parents, particularly about temperature control and cooling procedures, and networking with patient support groups served as effective measures to avoid hyperpyrexia and other complications of ED. CONCLUSIONS: Our data indicate that the mortality of hypohidrotic ED and the risk for hyperthermic brain damage are much lower than reported previously and can be reduced by relatively simple measures.