[Anhidrotic ectodermal dysplasia].
نویسندگان
چکیده
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.
منابع مشابه
Anhidrotic Ectodermal Dysplasia: The Dental Perspective: A Case Report
Ectodermal Dysplasia is a large, heterogeneous group of inherited disorders, the manifestations of which could be seen in more than one ectodermal derivates. These tissues primarily are the skin, hair, nails, exocrine glands and teeth. The most common form of ectodermal dysplasia is Anhidrotic Ectodermal Dysplasia. This case report describes a method of restoring function and aesthetics in a 8-...
متن کاملAnhidrotic ectodermal dysplasia with lacrimal anomalies.
Ectodermal dysplasia and its related disorders may present with ocular symptoms due to involvement of the ectodermal components of the eye. This paper reports a case of congenital anhidrotic ectodermal dysplasia presenting to the ophthalmologist with epiphora due to lacrimal atresia. The embryonic origin of the lacrimal system suggests that lacrimal anomalies in association with ectodermal diso...
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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 کاملA hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
The Journal of Clinical Investigation | October 2003 | Volume 112 | Number 7 Introduction Patients with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) present with impaired development of skin appendices, resulting in sparse hair, conical teeth, and anhidrosis/hypohidrosis. Host defense is also impaired, resulting principally in multiple and severe bacterial diseases (1). X-link...
متن کاملGene effect in carriers of anhidrotic ectodermal dysplasia.
Anhidrotic Ectodermal Dysplasia In an extensive review of different forms of hereditary ectodermal dysplasia, Cockayne (I933) recognized two types of inheritance for the variety characterized by anhidrosis, hypotrichosis, and complete or partial anodontia. He postulated an X-linked recessive gene in families where males alone were affected and an autosomal dominant gene where females were invol...
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ورودعنوان ژورنال:
- Minerva pediatrica
دوره 30 2 شماره
صفحات -
تاریخ انتشار 1975