Zo voelt het leven als je EB hebt
Subtypes van junctionele EB (JEB)
|
Most common JEB clinical subtypes |
Targeted protein(s) |
|
Severe |
Laminin 332a |
|
Intermediate |
Laminin 332 |
|
Intermediate |
Type XVII collagen |
|
With pyloric atresia |
Integrin α6β4 |
|
Localized |
Laminin 332, type XVII collagen, integrin α6β4, integrin α3 subunit |
|
Inversa |
Laminin 332 |
|
Late onset |
Type XVII collagen |
|
LOC syndrome |
Laminin α3A |
|
With interstitial lung disease and nephrotic syndrome |
Integrin α3 subunit |
- LOC, laryngo–onycho–cutaneous. aJEB severe is rarely caused by pathogenic variants affecting the type XVII collagen gene; bold, syndromic JEB subtypes.
