Autosomal recessive anhidrotic ectodermal dysplasia (Christ – Seimens – Touraine syndrome) in siblings
نویسندگان
چکیده
منابع مشابه
Autosomal recessive anhidrotic ectodermal dysplasia (Christ - Seimens - Touraine syndrome) in siblings
Ectodermal dysplasias (EDs)are a heterogenous group of hereditary disorders characterized by certain shared structural and functional abnormalities in tissues derived from the ectoderm [1]. They are characterized by deficient function of at least 2 ectodermal derivatives such as skin, hair, teeth and sweat glands. Although more than 170 different subtypes of ectodermal dysplasia have been ident...
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. ...
متن کاملAutosomal recessive hydrotic ectodermal dysplasia.
First cousins, a male and a female, with a new type of hidrotic ectodermal dysplasia are described. They were each the result of first cousin marriage from the Egyptian Karaite community. They both had partial adontia, conical peg-shaped teeth, fine hair that did not grow long, normal sweating, eversion of lips, and pronounced facial similarity. The male had cleft lip on the right side while th...
متن کامل[Anhidrotic ectodermal dysplasia].
Anhidrotic cctodcrmal dysplasia (AED) is a rare disorder characterised by a constellation ofdefect' involving the teeth. skin and appendageal structures. We report a child who had typical lealllrcs of this disorder.
متن کاملAutosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...
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: Our Dermatology Online
سال: 2016
ISSN: 2081-9390
DOI: 10.7241/ourd.20163.85