Hypohydrotic Ectodermal Dysplasia in an Indian Family
نویسندگان
چکیده
منابع مشابه
A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. ...
متن کاملHypohydrotic Ectodermal Dysplasia -a Case Report
Ectodermal dysplasia is a rare hereditary disorder. Its Hypohidrotic (HED) variant is also known as ChirstSiemens-Touraine syndrome. It is inherited as an Xlinked trait. Such Patients are characterized by the clinical manifestations of Hypodontia, Hypotrichosis, Hypohidrosis and a highly characteristic facial physiognomy. This article, reports a typical case of Hypohidrotic Ectodermal Dysplasia...
متن کاملMultidisciplinary management of hypohydrotic ectodermal dysplasia – a case report
Hypohydrotic ectodermal dysplasia is a hereditary disorder, which affects ectodermal derivatives. It manifests several abnormalities of the teeth, and is commonly inherited through female carriers. This case report presents a patient with compromised esthetics and function. A multidisciplinary approach was planned involving an oral pathologist, endodontist, orthodontist and a prosthodontist.
متن کاملHydrotic or Hypohydrotic Ectodermal Dysplasia: Diagnostic Dilemmas (Case Report)
Ectodermal dysplasia includes a large group of syndromes that are clinically and genetically heterogeneous, and are identified by anomalies in structures of ectodermalorigin, and can present with disorders in such structures as hair, nail, teeth, sweat glands, sebaceous glands and conjunctiva and nervous system (Ramesh et al., 2010). This syndrome was first reported by Charles Darwin (1860) (Mi...
متن کاملA Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. Here w...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of the College of Physicians and Surgeons Pakistan
سال: 2019
ISSN: 1022-386X,1681-7168
DOI: 10.29271/jcpsp.2019.04.381