Korean J Otolaryngol-Head Neck Surg.  2007 Feb;50(2):174-177.

A Case of Anhidrotic Ectodermal Dysplasia with Atrophic Rhinitis

Affiliations
  • 1Department of Otolaryngology, National Police Hospital, Seoul, Korea.
  • 2Department of Otolaryngology, Seoul Adventist Hospital, Seoul, Korea. ktw1220@unitel.co.kr
  • 3Department of Otolaryngology, Konkuk University Hospital, Seoul, Korea.

Abstract

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.

Keyword

Anhidrotic ectodermal dysplasia; Atrophic rhinitis

MeSH Terms

Anodontia
Diagnosis
Ear
Early Diagnosis
Ectoderm
Ectodermal Dysplasia*
Endoscopes
Fingers
Genetic Counseling
Hearing Loss, Conductive
Hearing Loss, Sensorineural
Humans
Hypohidrosis
Hypotrichosis
Infant
Nasal Cavity
Nasal Mucosa
Nasal Obstruction
Rhinitis, Atrophic*
Sweat
Tooth
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