IP International Journal of Medical Paediatrics and Oncology 2022;8(4):165–169 Content available at: https://www.ipinnovative.com/open-access-journals IP International Journal of Medical Paediatrics and Oncology Journal homepage: https://www.ijmpo.com/ Case Report Hypohidrotic hereditary ectodermal dysplasia: A case report Dimple Padawe 1 , Ankita Khade 1 , Vilas Takate 1 , Kishore Dighe 1 , Sanpreet Singh Sachdev 2, * 1 Government Dental College and Hospital, Mumbai, Maharashtra, India 2 Dept. of Oral Pathology and Microbiology, Government Dental College and Hospital, Mumbai, Maharashtra, India ARTICLE INFO Article history: Received 15-11-2022 Accepted 19-12-2022 Available online 11-01-2023 Keywords: Developmental Disorders Genodermatoses Hypodontia Oligodontia Oral Rehabilitation ABSTRACT Hypohidrotic Ectodermal Dysplasia (HED) is characterized by a triad of hypotrichosis (sparse hair), hypodontia (multiple missing teeth), and hypohidrosis (inability to sweat adequately). Consequently, patients’ quality of life is severely affected due to impairments in mastication, speech, and esthetics. Timely oral rehabilitation of patients with HED can enable them to lead a normal life by helping them perform their functions adequately and prevent the psychological ill-effects; in which dental professionals play a key role. The present case report describes the oral rehabilitation and management of a 7-year-old male patient with HED. This is an Open Access (OA) journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. For reprints contact: reprint@ipinnovative.com 1. Introduction Ectodermal dysplasias (EDs) are a heterogeneous group of hereditary disorders characterized by certain shared structural and functional abnormalities in tissues derived from the ectoderm. The ectoderm gives rise to various structures such as hair, teeth, nails, and the central nervous and peripheral nervous systems. Various glands including the sweat glands, sebaceous eccrine, mammary, and pituitary also arise from the ectoderm. 1 As the name implies, abnormalities in the embryogenesis of the ectoderm give rise to defective structure and function of these derivatives which collectively constitute the spectrum of ED. Mutations in ectodysplasin-related genes (EDA1, EDAR, EDARADD) and the WNT-10A gene are responsible for ectodermal defects ED. 2 The number of alleles affected and the different extent of involvement of the various derivative structures give rise to numerous varieties of ED, of which * Corresponding author. E-mail address: sunpreetss@yahoo.in (S. S. Sachdev). 117 were identified by Freire-Maia in the 1970s. 3 Even with all the types combined, the incidence of ED is as low as 1 out of 1,00,000 live births, and therefore, it is considered a rare condition. Hidrotic Ectodermal Dysplasia (Clouston’s syndrome) and Hypohidrotic Ectodermal Dysplasia (HED) also known as Christ-Siemens-Touraine Syndrome are the most frequent of all the types. Records of the earliest cases of ED date back to 1792, although the first case was described by Thurman in 1848. 4 The term Hereditary ED was suggested by Weech in 1929, and because of the inability of the patients to perspire, he also added the adjective anhidrotic. 5 Since all the affected patients are never completely devoid of sweat glands, the adjective ‘hypohidrotic’ was discerned to be more apt by Felsher in 1944. 3 While the syndrome only affects males due to its X- linked recessive pattern of inheritance, carrier females may display some of the characteristics of the disease. 6 True hypodontia due to agenesis of teeth, along with atrophy of the maxillary and mandibular alveolar bone are classically present in children with ED. Consequently, patients’ https://doi.org/10.18231/j.ijmpo.2022.039 2581-4699/© 2022 Innovative Publication, All rights reserved. 165