Ectodermal dysplasia: Report of two cases in a family and literature review

Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth. There are more than 150 different variants of ED described in literature. The condition is thought to occur in app...

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Autores principales: Chappidi, Vani, Voulligonda, Dheeraj, Bhogavaram, Bharadwaj, Reddy, P. Krishnanjaneya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482801/
https://www.ncbi.nlm.nih.gov/pubmed/31041288
http://dx.doi.org/10.4103/jfmpc.jfmpc_48_19
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author Chappidi, Vani
Voulligonda, Dheeraj
Bhogavaram, Bharadwaj
Reddy, P. Krishnanjaneya
author_facet Chappidi, Vani
Voulligonda, Dheeraj
Bhogavaram, Bharadwaj
Reddy, P. Krishnanjaneya
author_sort Chappidi, Vani
collection PubMed
description Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth. There are more than 150 different variants of ED described in literature. The condition is thought to occur in approximately 1 in every 100,000 live births. It mainly manifests in two types i.e. Hypohidrotic (Anhidrotic) type and Hydrotic type depending on degree of sweat gland function. This report presents two cases within a family, a 4 year old boy and a 6 year old girl with typical features of Hypohidrotic Hereditary ED i.e, hypodontia, hypohidrosis and hypotrichosis.
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spelling pubmed-64828012019-04-30 Ectodermal dysplasia: Report of two cases in a family and literature review Chappidi, Vani Voulligonda, Dheeraj Bhogavaram, Bharadwaj Reddy, P. Krishnanjaneya J Family Med Prim Care Case Report Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth. There are more than 150 different variants of ED described in literature. The condition is thought to occur in approximately 1 in every 100,000 live births. It mainly manifests in two types i.e. Hypohidrotic (Anhidrotic) type and Hydrotic type depending on degree of sweat gland function. This report presents two cases within a family, a 4 year old boy and a 6 year old girl with typical features of Hypohidrotic Hereditary ED i.e, hypodontia, hypohidrosis and hypotrichosis. Wolters Kluwer - Medknow 2019-03 /pmc/articles/PMC6482801/ /pubmed/31041288 http://dx.doi.org/10.4103/jfmpc.jfmpc_48_19 Text en Copyright: © 2019 Journal of Family Medicine and Primary Care http://creativecommons.org/licenses/by-nc-sa/4.0 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.
spellingShingle Case Report
Chappidi, Vani
Voulligonda, Dheeraj
Bhogavaram, Bharadwaj
Reddy, P. Krishnanjaneya
Ectodermal dysplasia: Report of two cases in a family and literature review
title Ectodermal dysplasia: Report of two cases in a family and literature review
title_full Ectodermal dysplasia: Report of two cases in a family and literature review
title_fullStr Ectodermal dysplasia: Report of two cases in a family and literature review
title_full_unstemmed Ectodermal dysplasia: Report of two cases in a family and literature review
title_short Ectodermal dysplasia: Report of two cases in a family and literature review
title_sort ectodermal dysplasia: report of two cases in a family and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482801/
https://www.ncbi.nlm.nih.gov/pubmed/31041288
http://dx.doi.org/10.4103/jfmpc.jfmpc_48_19
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AT bhogavarambharadwaj ectodermaldysplasiareportoftwocasesinafamilyandliteraturereview
AT reddypkrishnanjaneya ectodermaldysplasiareportoftwocasesinafamilyandliteraturereview

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