| There cases of Hereditary Anhidrotic Ectodermal Dysplasia. |
|
Seung Woo Moon1, Seung Koo Park1, Jung Ju Kim1, Dong Hak Shin1, Sang Suk Lee2 |
1Department of Pediatrics, Presbyterian Medical Center, College of Medicine Keimyung University, Daegu, Korea.
2Department of Pathology, Presbyterian Medical Center, College of Medicine Keimyung University, Daegu, Korea. |
| 무한형외 유전성。외배엽성 결손증 3례 |
|
문승우1, 박승구1, 김정주1, 신동학1, 이상숙2 |
1계명대학교 의과대학 부속 동산병원 소아과학교실
2계명대학교 의과대학 부속 동산병원 병리학교실 |
|
|
|
|
| Abstract |
|
Hereditary anhidrotic ectodermal dysplasia is a rare hereditary condition in which certain structures derived from the ectoderm are undeveloped or underdeveloped, although, on a rarity, mesodermal or endodermal derivatives may be associated. Recently, we enperienced 3-cases of anhidrotic ectodermal dysplasia in 3 months male infant and in brothers aged 4(1/2) months and 22 months. They had abscence of sweating, hypotrichosis and defective dentition, which was characteristic features of this disorder. They seemed to be inherited a sex linked recessive fashion in their family ground. We established the diagnosis with this clinical features, their familial history, and skin biopsy. The first case of these was associated with congenital heart disease, a mesodermal derivative. But, we couldn't explain the associations of this anhidrotic ectodermal dysplasia and the occurance of C.H.D. |
| Key Words:
Hereditary, Ectodermal, Dysplasia, Anhidrosis, Congental Heart Disease |
|
PDF Links
Download Citation
