Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Search
Search for a rare disease
Epidermolysis bullosa simplex with anodontia/hypodontia
Suggest an update
Your message has been sent
Your message has not been sent. Please contact an administrator.
Disease definition
A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.
ORPHA:2325
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Article for general public
Guidelines
Emergency guidelines
Anesthesia guidelines
Clinical practice guidelines
Disability
Disability factsheet
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (46)
- Clinical trial(s) (8)
- Biobank(s) (8)
- Registry(ies) (26)
- Network of experts (4)
Newborn screening
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.