Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia

University Hospital Erlangen

Status: Completed

Conditions: Hypohidrotic Ectodermal Dysplasia

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT01109290

ED10

Details and patient eligibility

About

Hypohidrotic ectodermal dysplasia (HED) is a complex genetic disorder characterized by lack of sweat glands, sparse hair, and missing or malformed teeth. Inability to sweat may result in episodes of severe hyperthermia and cause sudden infant death. To assess sweat gland function in HED patients, the investigators will first quantify gland pores in a defined area of the palm and then stimulate the glands by pilocarpine followed by sweat collection in a special capillary for volume determination. This will be combined with non-invasive skin conductance measurement prior and subsequent to stimulation of the sympathetic nervous system. The data should provide a basis for genotype-phenotype correlation.

Enrollment: 65 patients

Sex: All

Ages: Under 60 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• for patients: hypohidrotic ectodermal dysplasia caused by mutations in the genes EDA or EDAR
• written informed consent

Exclusion criteria

• febrile disease
• pregnancy or breastfeeding
• implantable electronic devices, e.g. pacemaker
• hypersensitivity to self-adhesive electrodes

Trial design

65 participants in 4 patient groups

HED children

HED adults

Control children

Control adults