Platelet and cardiac function in Darier's disease

ATP2A2, the gene that is abnormal in Darter's disease, encodes SERCA2, a ca lcium pump that is expressed in many tissues. The wide expression of SERCA2 might suggest that ATP2A2 mutations would cause a multisystem disease. The re is however, no evidence of consistent extracutaneous manifestations of D arter's disease. We have conducted preliminary studies in patients with Dar ier's disease, in two extracutaneous systems in which SERCA2 is known to be important, in order to investigate whether subtle defects have been overlo oked. We found no evidence for altered cardiac function in 10 patients usin g two-dimensional, colour and Doppler echocardiography, There were no consi stent defects in platelet function in 12 patients, using bleeding time and aggregation studies. We conclude that the skin is sensitive to defects in S ERCA2 function to which other systems appear robust.