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
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
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.