Can @entity272 cause XXXX ? A study in @entity17050 congenita.

@entity1 @entity3883 @entity10642 @entity73 @entity17050 @entity10773 @entity158 @entity272 @entity9531 @entity16552 @entity25867 @entity9
INTRODUCTION: @entity17050 congenita (PC) is a rare @entity272 caused by an autosomal dominant mutation in one of five genes encoding keratin ( @entity10642 , @entity16552 , @entity25867 , @entity10773 or @entity9531 ; each defining one PC subtype). @entity158 is a prominent symptom, but its severity and type are poorly characterized. METHODS: In total, 35 genotyped US @entity1 with PC consented to clinical assessment including the quality of life (QoL) questionnaire EQ-5D-3L, the Brief @entity158 Inventory (BPI) and painDETECT. Abbreviated quantitative sensory testing (QST) was also performed, and included @entity3883 ( @entity3883 ), mechanical @entity158 threshold (MPT), wind-up @entity158 ratio (WUR) and vibration detection threshold (VDT). RESULTS: Significant @entity158 in @entity1 with PC was confirmed, as indicated by mean BPI severity and interference of 4.2      1.7 and 4.4      2.2, respectively, as well as @entity73 , as indicated by mean EQ-5D index of 0.69      0.18. PD identified @entity9 in 62% of @entity1 , the remainder being nociceptive. The painDETECT score was most significantly related to EQ-5D index (R(2)   =  0.26, P  =  0.02). The @entity9531 and @entity10642 subtypes exhibited significantly worse QoL (0.584 and 0.613 respectively) than the @entity10773 and @entity16552 subtypes (P  =  0.02). In QST analysis, abnormal pressure @entity158 (assessed as MPT) was frequently observed, with more than half of @entity1 with PC affected (54%), and 57% of @entity1 with @entity9531 also exhibiting abnormality in minimum touch threshold (assessed as @entity3883 , P  <  0.05). Very few @entity1 were receiving analgesic therapy appropriate for @entity9 . CONCLUSION: Significant @entity9 was observed in PC, which warrants appropriate treatment. The health states observed in this sample are at a level that the average US citizen would forfeit one-third of their remaining lifespan to avoid.
