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Clinical Trial Summary

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia. Insufficient function of the respective glands may lead to chronic inflammatory processes in airways and eyes of the affected individuals. The investigators will quantify sweat glands of XLHED patients, assess chronic conjunctivitis and blepharitis in conjunction with quantitative and/or qualitative alterations of lacrimal fluid in these subjects, evaluate lung function and assess chronic inflammatory processes in the airways by NO measurements. The data should provide a basis for genotype-phenotype correlations.


Clinical Trial Description

n/a


Study Design

Observational Model: Cohort, Time Perspective: Prospective


Related Conditions & MeSH terms


NCT number NCT01308333
Study type Observational
Source University Hospital Erlangen
Contact
Status Completed
Phase N/A
Start date April 2011
Completion date November 2011

See also
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