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

University Hospital Erlangen

Status: Completed

Conditions: X-linked Hypohidrotic Ectodermal Dysplasia

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT01308333

ED11

Details and patient eligibility

About

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.

Enrollment: 38 patients

Sex: Male

Ages: 6 to 60 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

38 participants in 4 patient groups

XLHED children

XLHED adults

Control children

Control adults