Case Report: X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency and an unusual Aspergillus infection

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X-linked anhidrotic ectodermal dysplasia with some unusual features.

A total of 85 members of a family in which several individuals presented with hypodontia, hypotrichosis, and hypohidrosis were examined. Of these, 77 were evaluated clinically and the results compared with those obtained in an equal number of carefully chosen controls. The main symptoms among the affected males and females involved changes in the quantity and texture of head hair and in the dis...

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Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.

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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Anhidrotic Ectodermal Dysplasia – Report of Two Cases

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: 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-...

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[Anhidrotic ectodermal dysplasia syndrome in the neonatal period - case report]

OBJECTIVE: To describe a rare syndrome affecting children, and to urge pediatricians to consider this diagnosis when investigating idiopathic fever in neonates. METHODS: We report a case of anhidrotic ectodermal dysplasia syndrome in a 10 day old newborn in the neonatal intensive care unit at Hospital Geral de Caxias do Sul. The child presented recurrent episodes of fever since the first days o...

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ژورنال

عنوان ژورنال: F1000Research

سال: 2016

ISSN: 2046-1402

DOI: 10.12688/f1000research.9783.1