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KMID : 0361020070500020174
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Korean Journal of Otolaryngology - Head and Neck Surgery
2007 Volume.50 No. 2 p.174 ~ p.177
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A Case of Anhidrotic Ectodermal Dysplasia with Atrophic Rhinitis
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Lee Yong-Seon
Kim Jung-Eun
Wee Sung-Joon
Lim Sang-Kyun
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Abstract
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Anhidrotic ectodermal dysplasia is a rare genetic disorder characterized by absence or diminished numbers of structures derived from the ectoderm, and it is reported to be inherited as an x-linked recessive trait. It is recognized clinically by anhidrosis, hypotrichosis, anodontia or reduced numbers of teeth with deformed shape and characteristic facial features. In addition, otolaryngological manifestations include atrophic rhinitis, sensorineural hearing loss, and conductive hearing loss and satyr ear, among others. Early diagnosis of anhidrotic ectodermal dysplasia can prevent fatal hyperpyrexia and appropriate genetic counseling can be followed to make a reasonable future plans for the pediatric patient. A 2-month-old infant was referred with symptoms of intermittent nasal obstruction and crust formation in both nasal cavities. The nasal endoscope demonstrated atrophic changes of nasal mucosa and radiologic study showed an unerupted conical shaped tooth. The diagnosis of anhidrotic ectodermal dysplasia was confirmed with the finger impression test that revealed deficiency of sweat pores. We report a case of anhidrotic ectodermal dysplasia with a review of the literature.
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KEYWORD
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Anhidrotic Ectodermal Dysplasia, Atrophic Rhinitis
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