Autosomal recessive anhidrotic ectodermal dysplasia (Christ - Seimens - Touraine syndrome) in siblings
نویسندگان
چکیده
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 identified, these disorders are considered to be relatively rare with an estimated incidence of 1 case per 100,000 [2].
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.
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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...
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ECTODERMAL DYSPLASIA IS A RARE DISORDER WITH DEFECTS IN TWO OR MORE OF THE FOLLOWING STRUCTURES: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. I...
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Here we report two cases of anhidrotic ectodermal dysplasia in a family presented to us with intermittent fever, developmental delay, frontal bossing, hypohydrosis, sparse hair and oligodontia. Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive hypohidrotic ectodermal dysplasia (HED) and has a full expression in males, whereas fema...
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Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized according to its various manifestations, which include ectodermal dysplasia, vascular anomalies, osteopetrosis, and diverse immunological abnormalities such as susceptibility to pathogens, impaired antibody responses to polysaccharides, hypogammaglobulinemia, hyper-IgM syndrome, impaired natural killer cell cytotoxi...
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