Epidermolysis bullosa

epidermolysis bullosa: a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.

Endpoint definition

FinnGen phenotype data
diagram bullet diagram downward connector

Filter registries Inpat., Oupat., Death

Hospital Discharge: ICD-10 Q81
Cause of death: ICD-10 Q81

Check pre-conditions None

Include endpoints None

Check conditions None

Apply sex-specific rule None

diagram downward connector Q17_EPIDERMOL_BULLOSA

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF4
Parent code in ICD-10 Q8
Name in latin Epidermolysis bullosa

Summary Statistics

Key figures

All Female Male
Number of individuals 20 14 6
Unadjusted prevalence (%) 0.01 0.01 0.01
Mean age at first event (years) 30.86 35.36 20.36

Mortality

Follow-up Absolute risk HR [95% CI] p N
1998–2019 - - - -
15 years - - - -
5 years - - - -
1 year - - - -

Correlations

Index endpoint: Q17_EPIDERMOL_BULLOSA – Epidermolysis bullosa
GWS hits:

Survival analyses between endpoints

Plot

before Epidermolysis bullosa
after Epidermolysis bullosa

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Drugs most likely to be purchased after Epidermolysis bullosa