Female Patient Showing Hypohidrotic Ectodermal Dysplasia and Immunodeficiency (HED-ID)
نویسندگان
چکیده
منابع مشابه
Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins.
Autosomal recessive hereditary ectodermal dysplasia (HED) has not been described in sub-Saharan Africa. It is acknowledged to be rarer than the occasionally reported x-linked and autosomal dominant variants. We report a pair of Nigerian female twins with family history and clinical features suggestive of recessive HED, thereby showing the existence of this rare form in sub-Saharan Africa.
متن کاملHypohidrotic ectodermal dysplasia.
X linked hypohidrotic ectodermal dysplasia was studied in the dentition of both affected males and carrier females. Hypodontia was more severe in males than females and there were differences in the pattern of tooth absence between the sexes. Abnormal crown form, with the maximum diameter of the teeth being apically displaced, was noted particulady in the anterior teeth. Taurodontism was common...
متن کاملBK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency
Human BK polyomavirus (BKV) is reactivated under conditions of immunosuppression leading most commonly to nephropathy or cystitis; its tropism for the brain is rare and poorly understood. We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) due to IKK-gamma (NEMO) mutation, who developed progressive neurological ...
متن کاملGenetic counselling of a male patient with hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasias (HED) are characterized by abnormal morphogenesis of epidermis and epidermal appendages. They may be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner. The most common type shows Xlinked inheritance, and males.are usually more severely affected than females. In a male infant who was treated in our department, the diagnosis of...
متن کاملHypohidrotic Ectodermal Dysplasia: Prosthetic and Endodontic Management
Individuals affected by ectodermal dysplasia syndromes have abnormalities of the glands, tooth buds, hair follicles, and nail development. Oral finding in ectodermal dysplasia patient are significant and can include multiple abnormalities of the dentition such as anodontia, hy-podontia or malformed and widely spaced peg like teeth, loss of occlusal vertical dimension, protuberant lips and lack ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2001
ISSN: 0002-9297
DOI: 10.1086/323003