370 Angle Orthodontist, Vol 78, No 2, 2008 DOI: 10.2319/100406-403.1 Case Report Witkop Tooth and Nail Syndrome and Orthodontics Ayse T. Altug-Atac a ; Haluk Iseri b ABSTRACT This case report presents the orthodontic treatment of a patient with Witkop syndrome, an auto- somal dominant genetic disorder characterized by the absence of several teeth and abnormalities of the nails. The patient, a 6-year 4-month-old boy, was referred to our clinic for treatment of severe overjet and openbite. Radiographic and clinical evaluations showed peg-shaped maxillary lateral incisors and the congenital absence of three mandibular incisors as well as spoon-shaped fingernails. Treatment of openbite and overjet was initiated with functional appliances, and fixed orthodontic appliances were inserted at age 10 years 3 months. The edentulous spaces are being maintained for implants that will be provided once the patient’s growth is complete. Evaluations of long-term treatment results to date have indicated improvements in both facial and dental esthetics. KEY WORDS: Tooth and nail syndrome; Witkop syndrome; Ectodermal dysplasia INTRODUCTION Witkop tooth and nail syndrome (TNS) is a form of ectodermal dysplasia, a group of hereditary diseases characterized by the absence or impaired function of two or more structures (teeth, hair, nails, glands) orig- inating from the ectoderm. 1 First described by Witkop in 1965, 2 Witkop TNS is characterized primarily by hypodontia and nail dyspla- sia, with little involvement of the hair and sweat glands. 3,4 Teeth of individuals affected by Witkop TNS are often widely spaced, conical in shape and have narrow crowns. Nails may be spoon-shaped (koil- onychia*), ridged, slow growing, and easily broken (onychorrhexis † ). 1 In rare cases, nails may spontane- ously separate from the nail beds or may be absent a Assistant Professor, Department of Orthodontics, School of Dentistry, University of Ankara, Ankara, Turkey. b Professor and Chairman, Department of Orthodontics, School of Dentistry, University of Ankara, Ankara, Turkey. Corresponding author: Dr Ayse Tuba Altug-Atac, Ankara Universitesi, Dis Hekimligi Fakultesi, Ortodonti Anabilim Dali, 06500, Besevler, Ankara, Turkey (e-mail: aysealtug@yahoo.com) Accepted: January 2007. Submitted: October 2006.  2007 by The EH Angle Education and Research Foundation, Inc. *Koilonychia is a dystrophy of the fingernails in which they are flattened and have concavities with raised edges; koilonych- ia is also called ‘‘spoon nails.’’ The depression in the nail is usually large enough to hold a drop of liquid. † Onychorrhexis is a brittleness of the fingernails or toenails, with splitting of the free edge of the nail. Onchorrhexis produces longitudinal lines or striations in the nail plate. at birth. Toenails are usually more severely affected than fingernails. Other symptoms include fine and sparse hair. Witkop TNS has been estimated to affect one to two individuals in 10,000. 5 It is an autosomal dominant trait, meaning that it is caused by a single copy of the responsible gene that is usually inherited from a parent who is also affected by the disease. Both males and females may develop Witkop TNS. The gene responsible for Witkop TNS was identified in 2001 and is termed MSX1. 6 This gene is recognized as important in tooth formation, and the mutation that results in Witkop TNS appears to encode a protein that is completely nonfunctional. Another mutation in the same gene has been associated with oral clefting. CASE REPORT Presentation and Diagnosis A 6-year 4-month-old boy was referred to the An- kara University Department of Orthodontics for treat- ment of openbite and overjet. The patient was in early mixed dentition. Clinical examination identified a Class II, division 1 malocclusion associated with a mild open- bite and lip incompetence resulting from a retrognathic mandible. The patient had widely spaced dentition; his maxillary lateral, mandibular central, and mandibular lateral incisors, and maxillary and mandibular decidu- ous canines were tapered. Plaster models and extra- oral photographs were obtained during the initial visit, and a tongue shield was inserted to rehabilitate tongue Downloaded from http://meridian.allenpress.com/doi/pdf/10.2319/100406-403.1 by guest on 09 July 2020