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      A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates

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          Abstract

          Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. The two most common forms of the disease are hypohidrotic/anhidrotic ED and hidrotic ED. They are caused by the mutations of several genes. We present a case of a 9-year-old child with hypohidrotic ED, who presented with hypodontia, dyshidrosis, hypotrichosis, and raised body temperature. We treated the raised body temperature symptomatically with cooling techniques and antipyretics. A multidisciplinary approach with physicians from several fields is required to provide comprehensive medical care to patients with ED.

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          Molecular basis of hypohidrotic ectodermal dysplasia: an update

          Wieslaw Trzeciak, Ryszard Koczorowski (2015)
          Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal transduction from ectoderm to mesenchyme during development of the fetus and are indispensable for the differentiation of ectoderm-derived structures such as eccrine sweat glands, teeth, hair, skin, and/or nails. Novel data were reviewed and discussed on the structure and functions of the components of TNFα-related signaling pathway, the consequences of mutations of the genes encoding these proteins, and the prospect for further investigations, which might elucidate the origin of HED.
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            Ectodermal Dysplasia: A Genetic Review

            Seema Deshmukh, V. R. S. S. Prashanth (2012)
            Abstract Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.
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              Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy.

              Gert Blüschke, Kai-Dietrich Nüsken, Holm Schneider (2010)
              To re-evaluate the mortality of hypohidrotic ectodermal dysplasia (HED) and the prevalence of hyperpyrexia and possible neurological sequelae in affected infants. A cross-sectional postal survey was conducted among parents of 100 children with ectodermal dysplasia who had been registered with the German-Swiss-Austrian patient support group at any time point within the past 10 years. Detailed questionnaires referring to the first year of life were evaluated statistically. 63% of parents returned completed surveys, identifying 57% of children as patients with X-linked HED and 20% as patients with autosomal HED or HED of unknown origin. Of those two groups, 17 infants had been placed in an incubator after birth, where body temperature recording proved to be of utmost importance. In 94% of all HED patients, episodes of unexplained fever were observed during the first year of life. X-linked HED was associated with frequent airway infections. Febrile seizures occurred in 5.9% of infants with X-linked HED and in 17% of the other HED patients. Developmental retardation was reported for 15% and 25%, respectively. Prognosis depended on the type of genetic defect and the time point of diagnosis. Except for one all patients survived infancy. Early recognition of the disease was aided by vigilant neonatal care and consulting a dermatologist or geneticist. Adequate instruction of the parents and networking with patient support groups also reduced the risks associated with HED. Today, mortality of HED and the risk of hyperthermic brain damage are still increased, but lower than reported previously. 2010 Elsevier Ltd. All rights reserved.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Family Med Prim Care
                Journal ID (iso-abbrev): J Family Med Prim Care
                Journal ID (publisher-id): JFMPC
                Title: Journal of Family Medicine and Primary Care
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 2249-4863
                ISSN (Electronic): 2278-7135
                Publication date (Print): Jan-Feb 2018
                Volume: 7
                Issue: 1
                Pages: 264-266
                Affiliations
                [1 ] Department of Pharmacology, Postgraduate Institute of Medical Education and Research and Dr. Ram Manohar Lohia Hospital, New Delhi, India
                [2 ] Department of Radiology, University of Texas Health Science Centre, San Antonio, Texas, USA
                [3 ] Department of Paediatrics, Richmond University Medical Centre, Staten Island, New York, USA
                Author notes
                Address for correspondence: Dr. Girish Gulab Meshram, Department of Pharmacology, Postgraduate Institute of Medical Education and Research and Dr. Ram Manohar Lohia Hospital, New Delhi - 110 001, India. E-mail: drgirish23@ 123456yahoo.co.in
                Article
                Publisher ID: JFMPC-7-264
                DOI: 10.4103/jfmpc.jfmpc_20_17
                PMC ID: 5958584
                PubMed ID: 29915774
                SO-VID: 18a9d901-f8a0-463d-a403-6110a9686374
                Copyright © Copyright: © 2018 Journal of Family Medicine and Primary Care
                License:

                This is an open access 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.

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                Subject: Case Report

                Keywords: early diagnosis,hypohidrotic ectodermal dysplasia,multidisciplinary approach
                Data availability:
                Keywords: early diagnosis, hypohidrotic ectodermal dysplasia, multidisciplinary approach

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