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

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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

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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

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Index endpoint: Q17_EPIDERMOL_BULLOSA – Epidermolysis bullosa
GWS hits:

Survival analyses between endpoints

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Plot

before Epidermolysis bullosa
after Epidermolysis bullosa

loading spinner Loading survival analyses plot

Drugs most likely to be purchased after Epidermolysis bullosa

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