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Κυριακή 18 Ιουνίου 2017

PASH syndrome a disease with genetic heterogeneity

PASH syndrome is a clinical entity associating pyoderma gangrenosum (PG), severe acne and hidradenitis suppurativa (HS)1. Absence of pyogenic sterile arthritis (PA) distinguishes PASH syndrome from PAPASH and PAPA syndromes which associate PA in combination with PG, severe acne with or without HS, respectively2,3. Mutations in PSTPIP1 (proline-serine-threonine-phosphatase interacting protein 1) gene were identified in patients with PAPA and PAPASH syndromes, although genetic heterogeneity was observed in PAPA syndrome2,3. Loss-of-function mutations in the y-secretase genes, Nicastrin (NCSTN), Presenilin Enhancer-2 (PSENEN), and Presenilin-1 (PSEN1), have been reported in a small proportion of HS patients4,5.

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