Orphanet: Epidermolysis bullosa simplex with anodontia/hypodontia

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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
English (2020) - Orphanet J Rare Dis
English (2022, pdf) - Bambino Gesù Children’s Hospital
Italiano (2022, pdf) - Bambino Gesù Children’s Hospital

Guidelines

Emergency guidelines
Français (2012, pdf) - Orphanet Urgences

Clinical practice guidelines
English (2012) - Int J Paediatr Dent
English (2014) - Orphanet J Rare Dis
English (2014) - BMC Med
Français (2015) - PNDS
English (2016) - Br J Dermatol
English (2017, pdf) - Wounds International
Español (2017, pdf) - Wounds International
English (2019, pdf) - Debra International
English (2019, pdf) - Debra International
English (2019) - Orphanet J Rare Dis
English (2019) - Orphanet J Rare Dis
English (2020) - Br J Dermatol
English (2020) - Br J Dermatol

Anesthesia guidelines
Czech (2020) - Orphananesthesia
English (2020) - Orphananesthesia

Disability

Disability factsheet
Français (2013, pdf) - Orphanet
Español (2018, pdf) - Orphanet

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

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.