Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene

Citation
A. Zankl et al., Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene, EUR J PED, 160(5), 2001, pp. 296-299
Citations number
16
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
EUROPEAN JOURNAL OF PEDIATRICS
ISSN journal
0340-6199 → ACNP
Volume
160
Issue
5
Year of publication
2001
Pages
296 - 299
Database
ISI
SICI code
0340-6199(200105)160:5<296:FOIAFM>2.0.ZU;2-G
Abstract
Ectodermal dysplasias are a group of congenital disorders with defective de velopment of the epidermis and its appendages. X-linked hypohydrotic ectode rmal dysplasia (XLHED: OMIM 305100) is the most common form of ectodermal d ysplasia. We report on two monozygotic twin girls with XLHED due to a t(X;9 ) translocation causing a disruption of the EDA gene and non random inactiv ation of the normal X chromosome. One of the girls died unexpectedly at 2.5 years of age. Autopsy revealed that lack of normal tracheobronchial secret ions leading to complete tracheal obstruction bq. mucous debris was the pro bable cause of death. Conclusion Morbidity and mortality of ectodermal dysplasias in infancy and early childhood can be significant. Early diagnosis by paediatricians is im portant and complications should be anticipated.