Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia

University Hospital Erlangen38 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

X-linked Hypohidrotic Ectodermal Dysplasia

Eligibility

Sex: MALEMin age: 6 YearsMax age: 60 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * for patients: X-linked hypohidrotic ectodermal dysplasia caused by mutations in the gene EDA * written informed consent Exclusion Criteria: * acute respiratory disease * acute allergic problem, e.g. allergic coryza * implantable electronic devices, e.g. pacemaker

Locations (1)

University Hospital Erlangen, Competence Centre for Children with Ectodermal Dysplasias