A 9-year-old female patient presented to the clinic with a main complaint of abnormally shaped and missing teeth. Upon clinical examination, the patient had a repaired cleft lip and palate and sparse hair of her eyebrows. Intraoral and radiological examination revealed generalised enamel hypoplasia, multiple conical-shaped teeth and multiple congenitally absent teeth

Merbold, Lené

Smit, Chané

English

Academy of Science of South Africa (ASSAf): Open Journal Systems

INTERPRETATIONEctodermal dysplasia (ED) characterises a group of disorders where two or more structures derived from the ectoderm exhibit developmental disturbances.1 These include teeth, skin, hair, nails and sweat gland defects.2 In some cases, ED may cause problems with hearing and vision and might also be associated with cleft lip and/or palate.2 ED is a rare, diffuse, non-progressive, hereditary disorder3 with more than 150 subtypes.1 There are different forms of ED – the fi rst form occurs as X-linked recessive and the second form as autosomal dominant. In the X-linked recessive form males more commonly develop ED, while females only present as carriers of the abnormal gene. The autosomal dominant form is clinically present if either of the parents has ED, thus there is a 50% chance of ED transmission to their child.4The head and neck manifestations of ED include the following:1-3• Enamel hypoplasia• Malformed teeth (teeth that are smaller and pointed)• Anodontia or hypodontia• Malocclusion or ectopically-positioned teeth• Cleft lip and/or palate• Reduction in salivary fl ow• Thin or sparse hair• Reduced density of eyebrow/eyelash hair• Nail dystrophy• Abnormal functioning of the sweat glands• Frontal bossing• Saddle nose• Periocular skin wrinkling and pigmentationDiagnosing ED requires a multidisciplinary approach. ED is usually diagnosed during early childhood but, due to the wide range of clinical symptoms, some individuals are only diagnosed in adulthood.4 Many children with ED are diagnosed after a dental examination when the primary teeth have a delayed eruption pattern or when the teeth in the oral cavity are atypical in shape.5 Agenesis of teeth is a common fi nding – this includes anodontia (complete absence of permanent teeth), oligodontia (if six or more teeth are absent) and hypodontia (if less than six teeth are absent). The most common absent teeth are the maxillary lateral incisors and fi rst premolars, followed by the mandibular central incisors and fi rst premolars.5 Dental agenesis can affect jaw growth of the alveolar bone and favours a tendency for skeletal class III development.6 A thorough clinical and radiological RADIOLOGY CORNER420 >MAXILLOFACIAL RADIOLOGY Ectodermal dysplasiaCASEA 9-year-old female patient presented to the clinic with a main complaint of abnormally shaped and missing teeth. Upon clinical examination, the patient had a repaired cleft lip and palate and sparse hair of her eyebrows. Intraoral and radiological examination revealed generalised enamel hypoplasia, multiple conical-shaped teeth and multiple congenitally absent teeth.L Merbold1, Chané Smit2SADJ September 2023, Vol. 78 No.8 p420-421Authors’ information1.   Lené Merbold, BChD, PGDipDent (Radiology), MSc (Maxillofacial Radiology), Department of Oral and Maxillofacial Pathology, School of Dentistry, Faculty of Health Sciences, University of Pretoria, South Africa.ORCID: 0000-0003-4041-127X2.  Chané Smit, BChD, MSc (Maxillofacial Radiology), Department of Oral and Maxillofacial Pathology, School of Dentistry, Faculty of Health Sciences, University of Pretoria, South Africa.ORCID: 0000-0003-4047-6356Corresponding authorName:  Lené MerboldEmail:  Lmerbold@gmail.comAuthor’s contribution1. Lené Merbold (primary author)  70%2. Chané Smit (secondary author)  30%www.sada.co.za / SADJ Vol. 78 No.8Figure A: Clinical image showing the enamel hypoplasia (white arrow). Figure B: Panoramic radiograph showing congenitally missing teeth, enamel hypoplasia and conically shaped teeth.www.sada.co.za / SADJ Vol. 78 No.8 RADIOLOGY CORNER < 421examination should be performed and, if ED is suspected, the patient should be referred for genetic testing to confirm the diagnosis.2 Treatment often depends on the case’s complexity and the patient’s age, with some treatments only commencing after growth is completed.2 Treatment may include preventive oral care, including good oral hygiene with regular dental visits. Functional and aesthetic rehabilitation should be performed via a multidisciplinary team approach. The goal of early treatment is to resolve the problem of multiple missing teeth and to enhance jaw growth to achieve better function.7 The initial dental treatment should mainly focus on prevention of caries and restoring tooth alterations to improve the patient’s occlusion.7 Rehabilitation of the occlusion includes partial or complete removable dentures, orthodontic expansion devices, dental implants and/or crowns.1 Together with this approach, a psychologist and speech therapist should aid the patient to improve social acceptance.8 After growth is completed, the specialities of maxillofacial surgery together with orthodontics and prosthodontics will be required.5 This case report highlights the importance of dentists identifying the clinical and radiological features of ED as they may be the first line of diagnosis.AUTHORS’ DECLARATION FundingThis research did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors.Conflict of interestThe authors declare that they have no conflict of interest.Ethics approvalThis study was approved by the University of Pretoria Ethics Committee (Reference no 360/2023). All procedures followed the ethical standards of the Helsinki Declaration of 1975, as revised in 2008.REFERENCES 1.   Neville BW, Damm DD, Allen CM, Chi AC. (2016) Oral & Maxillofacial Pathology. 4th Edition, WB Saunders, Elsevier, Missouri, 741-7432.   Visinoni Átila F, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. (2009). Ectodermal dysplasias: clinical and molecular review. American Journal of Medical Genetics Part A, 149a(9), 1980-2002. https://doi.org/10.1002/ajmg.a.328643.   Halai T, Stevens C. (2015). Ectodermal dysplasia: a clinical overview for the dental practitioner. Dental Update, 42(8), 779-804.   Kariya R, Kadota T, Okawa R, Ochiai M, Okuda M, Nakano K. (2023). Two cases of ectodermal dysplasia diagnosed based on congenital absence of multiple teeth. Pediatric Dental Journal, 33(2), 147-151. https://doi.org/10.1016/j.pdj.2023.03.0015.   Cerezo-Cayuelas M, Pérez-Silva, A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ. (2022). Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02533-06.   Bondarets N, Jones RM, McDonald F. (2002). Analysis of facial growth in subjects with syndromic ectodermal dysplasia: a longitudinal analysis. Orthodontics & Craniofacial Research, 5(2), 71-84. https://doi.org/10.1034/j.1600-0544.2002.01159.x7.   Wimalarathna AAAK, Weerasekara WBMCRD, Herath EMUCK. (2020). Comprehensive management of ectodermal dysplasia with interceptive orthodontics in a young boy who was bullied at school. Case Reports in Dentistry, 2020, 6691235-6691235. https://doi.org/10.1155/2020/66912358.    Celli D, Manente A, Grippaudo C, Cordaro M. (2018). Interceptive treatment in ectodermal dysplasia using an innovative orthodontic/prosthetic modular appliance. A case report with 10-year follow-up. European journal of paediatric dentistry, 19(4), 307-312. https://doi.org/10.23804/ejpd.2018.19.04.11explanations. Med Princ Pract 2014; 23: 295-301.28. Kassak KM, Dagher R and Doughan B. Oral hygieneand lifestyle correlates among new undergradu teuniversity students in Lebanon. J Am Coll Health2001; 50: 15-2029. Harris NO and Garcia-Godoy F. Primary preventivedentistry. 8th ed.: Upper Saddle River, NJ: PearsonEducation, 2014.30. Clark-Perry D and Levin L. Comparison of newformulas of stannous fluoride toothpastes with otherco mercially available fluoridated toothpastes: Asystematic review and meta-analysis of randomisedcontrolled trials. Int Dent J 2020; 70: 418-426.31. 31. Tada A and Hanada N. Sexual differences in oralhealth behaviour and factors associated with oralhealth behaviour in Japanese young adults. PublicHealth 2004; 118: 104-109.The Continuing Professional Development (CPD) section provides for twenty general questions and five ethics questions. The section provides members with a valuable source of CPD points whilst also achieving the objective of CPD, to assure continuing education. The importance of continuing professional development should not be underestimated, it is a career-long obligation for practicing professionals.Online CPD in 6 Easy StepsGo to the SADA website www.sada.co.za.Select the questionnaire that you wish to complete.Enter your multiple choice answers. Please note that you have two attempts to obtain at least 70%.Select the CPD navigation tab.View and print your CPD certificate.Log into the ‘member only’ section with your unique SADA username and password.Online CPD in 6 Easy Steps RESEARCH618 > www.sada.co.za / SADJ Vol. 77 No. 10

MAXILLOFACIAL RADIOLOGY  Ectodermal dysplasia

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MAXILLOFACIAL RADIOLOGY Ectodermal dysplasia

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