vesiculobullous skin disease: Skin diseases characterized by local or general distributions of vesicles and bullae (i.e. blisters). Both vesicles and bullae are fluid-filled lesions, distinguished by size (vesicles being less than 5–10 mm and bullae being larger than 5–10 mm). Vesiculobullous diseases are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. In the case of vesiculobullous diseases which are also immune disorders, the term immunobullous is sometimes used. (From Scientific American Medicine, 1990, and Wikipedia)
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
1 out of 7 registries used, show all original rules. |
73 |
4. Check minimum number of eventsNone |
73 |
5. Include endpointsNone |
73 |
6. Filter based on genotype QC (FinnGen only) |
73 |
Control definitions (FinnGen only)
- Control exclude
- L12_BULLOUS
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Severe bullous disorders, KELA reimbursement
based on the number of shared cases.
Similar with more cases:
- Bullous disorders
- Diseases of the skin and subcutaneous tissue
- Any reimbursement code in KELA
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 753 | 435 | 305 |
| Only index persons | 495 | 299 | 196 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 70.06 | 70.07 | 70.21 |
| Only index persons | 68.20 | 68.53 | 67.69 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 73 | 36 | 37 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.02 |
| Median age at first event (years) | 64.29 | 60.80 | 67.69 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
No data
-FinnGen-
Cumulative Incidence Function
No data
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 63
- Matched controls
- 632
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
135
Kela drug reimbursment
Pemphigus
+∞
90.4
63
*
L12.0
ICD-10 Finland
Bullous pemphigoid
+∞
51.1
42
*
L04AX01
ATC
azathioprine; systemic
131.4
37.8
38
7
H02AB06
ATC
prednisolone; systemic
42.4
23.4
60
201
D07AC01
ATC
betamethasone; topical
12.0
17.7
48
132
D07AD01
ATC
clobetasol; topical
10.2
14.4
33
61
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
12.3
13.9
27
36
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
8.4
13.7
45
144
L12.9
ICD-10 Finland
Pemphigoid, unspecified
+∞
10.7
10
*
J04BA02
ATC
dapsone; oral
116.7
9.7
10
*
E0000UV
ATC
NA
5.4
9.0
40
153
L10.0
ICD-10 Finland
Pemphigus vulgaris
+∞
8.5
8
*
L12.1
ICD-10 Finland
Cicatricial pemphigoid
+∞
8.5
8
*
M05BA04
ATC
alendronic acid; oral
7.1
8.2
21
41
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
10.9
7.5
14
16
L04AX03
ATC
methotrexate; systemic (immunosuppressants)
7.8
6.7
15
24
L10.2
ICD-10 Finland
Pemphigus foliaceus
+∞
6.3
6
*
D07BB04
ATC
hydrocortisone butyrate and antiseptics; topical
5.3
6.1
19
47
Mortality – FinRegistry
↥Association
Association between endpoint L12_PEMPHIKELA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIKELA | 1.276 [0.98, 1.66] | 0.067 |
| Birth year | 0.998 [0.99, 1.01] | 0.707 |
During the follow-up period (1.1.1998 — 31.12.2019), 108 out of 247 females with L12_PEMPHIKELA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| L12_PEMPHIKELA | 1.912 [1.27, 2.89] | 0.002 |
| Birth year | 0.989 [0.98, 1.0] | 0.016 |
During the follow-up period (1.1.1998 — 31.12.2019), 97 out of 176 males with L12_PEMPHIKELA died.
Mortality risk
Mortality risk for people of age
years, who have L12_PEMPHIKELA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.133% | 0.453% |
| 5 | 0.775% | 2.226% |
| 10 | 2.036% | 5.532% |
| 15 | 4.081% | 10.457% |
| 20 | 7.01% | 17.319% |
Relationships between endpoints
↥Index endpoint: L12_PEMPHIKELA – Severe bullous disorders, KELA reimbursement
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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