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Epidermolysis bullosa simplex with anodontia/hypodontia
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
Classification level: Disorder- Synonym(s):
- EBS with anodontia/hypodontia
- Kallin syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Infancy, Neonatal
- ICD-10: Q81.0
- OMIM: -
- UMLS: C0432313
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)
Detailed information
General public
- Article for general public
- Français (2012, pdf) - Orphanet
Guidelines
- Emergency guidelines
- Français (2012, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Français (2015) - PNDS
- English (2017, pdf) - Wounds International
- Español (2017, pdf) - Wounds International
- Anesthesia guidelines
- Czech (2020) - Orphananesthesia
- English (2020) - Orphananesthesia
Disability
- Disability factsheet
- Français (2013, pdf) - Orphanet
- Español (2018, pdf) - Orphanet


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site 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.