Anhidrotic ectodermal dysplasia - A case series in a medical center in southern Taiwan

Kuei Chung Liu, Ching Yuang Huang, Sheau Chiou Chao

研究成果: Article同行評審

1 引文 斯高帕斯(Scopus)

摘要

Background: Anhidrotic ectodermal dysplasia (EDA) is a rare genodermatosis that causes developmental defects in ectoderm-derived structures. The clinical triad consists of hypodontia, hypotrichosis, and anhidrosis with other additional symptoms. The aim of this study is to summarize the clinical manifestations, family history, histopathological findings of the skin, and gene mutations in EDA patients who presented at a medical center in order to make the disease better known among medical personnel. Methods: A retrospective review of the medical charts and photographs of patients diagnosed with EDA at the Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University from June 1988 through May 2011 was performed. Information about the clinical manifestations, family history, histopathological findings of the skin, and genetic mutations was collected, and the initial presenting symptoms that lead to seeking medical services were determined. Results: One female patient and seven male patients were identified. The triad was present in all patients, in addition to other variable features. Five patients had a positive family history, while three of them were from the same family. Histopathological findings noted in the skin biopsies included the absence of sweat glands on the palmar skin. Genetic mutations were detected in six of seven patients in this study, but there was no genotype-phenotype correlation. The initial presentations most commonly noted were the absence of sweating with episodic hyperthermia since birth. Eczema since infancy was the main reason why these patients visited the dermatology department following the diagnosis of EDA. Conclusions: EDA is a rare genodermatosis, and it is invariably characterized by its clinical triad. Family history and genetic analysis help in the diagnosis. The dermatologist, pediatrician, and dentist are usually the medical personnel that these patients first visit, and therefore these individuals should be acquainted with this disease in order to provide appropriate care.

原文English
頁(從 - 到)39-42
頁數4
期刊Dermatologica Sinica
30
發行號2
DOIs
出版狀態Published - 2012 六月

All Science Journal Classification (ASJC) codes

  • Dermatology

指紋 深入研究「Anhidrotic ectodermal dysplasia - A case series in a medical center in southern Taiwan」主題。共同形成了獨特的指紋。

引用此