PCNA-related progressive neurodegenerative photosensitivy syndrome — Definition

PCNA ilişkili ilerleyici nörodejeneratif fotosensitivite sendromu; it is a rare disease with autozomal resessive transition, caused by mutations in the PCNA gene. The progressive neurological degradation, starting in the early childhood period, manifests itself with hypersensitivity to sunlight and characteristic facial appearance. The disease leads to neuronal damage and skin lesions due to disorder in DNA repair mechanisms.

The Turkish equivalent of "PCNA-related progressive neurodegenerative photosensitivy syndrome" is PCNA ilişkili ilerleyici nörodejeneratif fotosensitivite sendromu.

This term belongs to the Diseases category.