Pustular psoriasis [3 genes]

Pustular psoriasis is an immune-mediated disease characterized by the eruption of yellowish pustules with an erythematous base and different distribution patterns. Pustules are characterized by a sterile neutrophilic infiltration. Some forms of pustular psoriasis have a clear genetic origin. Generalized pustular psoriasis stands out for its clinical peculiarity. This is a potentially fatal disease characterized by sudden and repeated high fevers, generalized skin rash, disseminated pustules with hyperleukocytosis, and elevated serum levels of C-reactive protein.

Generalized pustular psoriasis: 1-9 / 1,000,000 (ORPHA:247353).

Recommended service when a genetic origin of the psoriatic disease suffered is suspected. Although there are many genetic regions involved in susceptibility to psoriasis, there is a small number of genes associated with monogenic forms of the disease.

The benefits derived from a genetic diagnosis in this context are especially aimed at closing the diagnosis, family genetic counseling, as well as enriching the prognostic information to be transferred.