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Transcript of E Grand Rounds Presentation Pachyonychia E Grand Rounds Presentation Pachyonychia Congenita...

  • S A M

    P L E

    Grand Rounds Presentation

    Pachyonychia Congenita

    presented by

    [Name, Credentials, Affiliation]

    sponsored by PC Project

  • Table of Contents

    Welcome—PC Project, IPCRR, IPCC ....................................................... 2

    IPCRR Status Data / Invitation to join the IPCC

    Chart of Mutations / Schematic of Mutations .......................................3

    IPCRR Data Summary (712 genetically confirmed with PC) ................... 4

    Presentation of Patients for Grand Rounds

    PC-K6a

    IPCRR #72 K6a L468P .......................................................................5

    IPCRR #344 K6a L469P .......................................................................6

    IPCRR #820 K6a L469R ........................................................................7

    IPCRR #1338 K6a N172del .....................................................................8

    PC-K6b

    IPCRR #641 K6b E472K .......................................................................9

    PC-K6c

    IPCRR #713 K6c E472K .................................................................... 10

    PC-K16

    IPCRR #35 K16 R127P ..................................................................... 11

    IPCRR #66 K16 L132P .................................................................... 12

    IPCRR #850 K16 R418P .................................................................... 13

    IPCRR #1578 K16 M121T .................................................................... 14

    PC-K17

    IPCRR #515 K17 N92S ....................................................................... 15

    List of Selected Articles .............................................................................. 16

    Full text articles ..................................................................................................

  • Sep 2016

    Welcome!

    Pachyonychia Congenita Project (PC Project) is a public charity in the USA which

    sponsors the International Pachyonychia Congenita Research Registry (IPCRR)

    serving patients around the world. Beginning with 3 patients in 2004, the IRB-

    approved registry has now enrolled over 1700 individuals diagnosed with PC. Of

    these, 968 have complete data on file in the IPCRR including patient input-

    physician validated data, images and genetic testing results and of those 727 have

    confirmed PC.

    Pachyonychia Congenita Project (PC Project) also sponsors the International Pach-

    yonychia Consortium (IPCC) a collaboration of physicians and scientists working

    in clinical care as well as basic and translational research to improve lives for those

    with PC and tofind effective treatments. If you’d like to join this open membership

    group and receive the quarterly newsletters, please include your name and contact

    details in an email request to info@pachyonychia.org.

    2

    Location of genetically confirmed individuals with PC

  • 3

  • 4

    PC-K6a

    N=276

    PC-K6b

    N=67

    PC-K6c

    N=22

    PC-K16

    N=231

    PC-K17

    N=116

    All PC Genes

    N=712

    273 of 276 (99%) 66 of 67 (99%) 13 of 22 (59%) 223 of 231 (97%) 112 of 116 (97%) 687 of 712 (96%)

    259 of 276 (94%) 24 of 67 (36%) 0 of 22 (00%) 94 of 231 (41%) 87 of 116 (75%) 464 of 712 (65%)

    8 of 276 (03%) 14 of 67 (21%) 0 of 22 (00%) 29 of 231 (13%) 10 of 116 (09%) 61 of 712 (09%)

    2 of 276 (01%) 19 of 67 (28%) 3 of 22 (14%) 59 of 231 (26%) 7 of 116 (06%) 90 of 712 (13%)

    4 of 276 (01%) 9 of 67 (13%) 10 of 22 (45%) 41 of 231 (18%) 8 of 116 (07%) 72 of 712 (10%)

    Toenails - Onset N = 273 N = 66 N = 13 N = 223 N = 112 N = 696

    Birth or less than 1 year 239 of 273 (88%) 9 of 66 (14%) 1 of 13 (08%) 44 of 223 (20%) 79 of 112 (71%) 372 of 696 (53%)

    1 to 4 years old 30 of 273 (11%) 16 of 66 (24%) 6 of 13 (46%) 72 of 223 (32%) 24 of 112 (21%) 148 of 696 (21%)

    5 to 14 years old 4 of 273 (01%) 34 of 66 (52%) 4 of 13 (31%) 68 of 223 (30%) 9 of 112 (08%) 119 of 696 (17%)

    15 years and over 0 of 273 (00%) 7 of 66 (11%) 2 of 13 (15%) 38 of 223 (17%) 1 of 112 (01%) 48 of 696 (07%)

    273 of 276 (99%) 31 of 67 (46%) 0 of 22 (00%) 136 of 231 (59%) 98 of 116 (84%) 538 of 712 (76%)

    244 of 276 (88%) 4 of 67 (06%) 0 of 22 (00%) 71 of 231 (31%) 50 of 116 (43%) 369 of 712 (52%)

    9 of 276 (03%) 4 of 67 (06%) 0 of 22 (00%) 11 of 231 (05%) 12 of 116 (10%) 36 of 712 (05%)

    14 of 276 (05%) 16 of 67 (24%) 0 of 22 (00%) 28 of 231 (12%) 27 of 116 (23%) 85 of 712 (12%)

    6 of 276 (02%) 7 of 67 (10%) 0 of 22 (00%) 26 of 231 (11%) 9 of 116 (08%) 48 of 712 (07%)

    Fingernails - Onset N = 273 N = 31 N = 0 N = 136 N = 98 N = 538

    Birth or less than 1 year 242 of 273 (89%) 4 of 31 (13%) 0 of 0 (00%) 33 of 136 (24%) 72 of 98 (73%) 351 of 538 (65%)

    1 to 4 years old 27 of 273 (10%) 7 of 31 (23%) 0 of 0 (00%) 40 of 136 (29%) 19 of 98 (19%) 93 of 538 (17%)

    5 to 14 years old 3 of 273 (01%) 11 of 31 (35%) 0 of 0 (00%) 33 of 136 (24%) 5 of 98 (05%) 52 of 538 (10%)

    15 years and over 1 of 273 (00%) 10 of 31 (32%) 0 of 0 (00%) 31 of 136 (23%) 3 of 98 (03%) 45 of 538 (08%)

    243 of 276 (88%) 64 of 67 (96%) 19 of 22 (86%) 227 of 231 (98%) 91 of 116 (78%) 644 of 712 (90%)

    233 of 276 (84%) 63 of 67 (94%) 19 of 22 (86%) 226 of 231 (98%) 74 of 116 (64%) 615 of 712 (86%)

    5 of 276 (02%) 1 of 67 (01%) 0 of 22 (00%) 1 of 231 (00%) 13 of 116 (11%) 20 of 712 (03%)

    6 of 276 (02%) 0 of 67 (00%) 0 of 22 (00%) 0 of 231 (00%) 4 of 116 (03%) 10 of 712 (01%)

    Plantar Keratoderma- Onset N = 243 N = 64 N = 19 N = 227 N = 91 N = 644

    Birth or less than 1 year 35 of 243 (14%) 2 of 64 (03%) 1 of 19 (05%) 20 of 227 (09%) 12 of 91 (13%) 70 of 644 (11%)

    1 to 4 years old 143 of 243 (59%) 20 of 64 (31%) 9 of 19 (47%) 124 of 227 (55%) 29 of 91 (32%) 325 of 644 (50%)

    5 to 14 years old 62 of 243 (26%) 41 of 64 (64%) 9 of 19 (47%) 77 of 227 (34%) 37 of 91 (41%) 226 of 644 (35%)

    15 years and over 3 of 243 (01%) 1 of 64 (02%) 0 of 19 (00%) 7 of 227 (03%) 14 of 91 (15%) 25 of 644 (04%)

    236 of 243 (97%) 64 of 64 (100%) 19 of 19 (100%) 217 of 227 (96%) 77 of 91 (85%) 613 of 644 (95%)

    61 of 243 (25%) 11 of 64 (17%) 5 of 19 (26%) 70 of 227 (31%) 17 of 91 (19%) 164 of 644 (25%)

    105 of 243 (43%) 32 of 64 (50%) 11 of 19 (58%) 103 of 227 (45%) 28 of 91 (31%) 279 of 644 (43%)

    70 of 243 (29%) 21 of 64 (33%) 3 of 19 (16%) 47 of 227 (21%) 32 of 91 (35%) 173 of 644 (27%)

    152 of 276 (55%) 28 of 67 (42%) 6 of 22 (27%) 173 of 231 (75%) 60 of 116 (52%) 419 of 712 (59%)

    81 of 276 (29%) 11 of 67 (16%) 2 of 22 (09%) 139 of 231 (60%) 16 of 116 (14%) 249 of 712 (35%)

    26 of 276 (09%) 6 of 67 (09%) 1 of 22 (05%) 14 of 231 (06%) 19 of 116 (16%) 66 of 712 (09%)

    45 of 276 (16%) 11 of 67 (16%) 3 of 22 (14%) 20 of 231 (09%) 24 of 116 (21%) 103 of 712 (14%)

    247 of 276 (89%) 18 of 67 (27%) 4 of 22 (18%) 83 of 231 (36%) 29 of 116 (25%) 381 of 712 (54%)

    178 of 276 (64%) 47 of 67 (70%) 4 of 22 (18%) 59 of 231 (26%) 107 of 116 (92%) 395 of 712 (55%)

    155 of 276 (56%) 29 of 67 (43%) 0 of 22 (00%) 28 of 231 (12%) 75 of 116 (65%) 287 of 712 (40%)

    8 of 276 (03%) 0 of 67 (00%) 0 of 22 (00%) 0 of 231 (00%) 88 of 116 (76%) 96 of 712 (13%)

    1-3 fingernails thickened

    Plantar Keratoderma

    Always (never goes away)

    Seldom (hands usually clear)

    Other

    Sometimes (clear up at times)

    Seldom (feet usually clear)

    Plantar Pain

    Often require meds for pain

    1-3 toenails thickened

    Fingernail Dystrophy

    all 10 fingernails thickened

    7-9 fingernails thickened

    4-6 fingernails thickened

    IPCRR Data 7 Jul 2016

    Toenails Dystrophy

    all 10 toenails thickened

    7-9 toenails thickened

    4-6 toenails thickened

    Oral Leukokeratosis

    Cysts

    Follicular Hyperkeratosis

    Very painful, but do not use meds

    Somewhat painful

    Palmar Keratoderma

    Always (never goes away)

    Sometimes (clear up at times)

    Natal or Prenatal Teeth

    International Pachyonychia Congenita Research Registry (IPCRR)

    Questionnaire Summary Data as of July 2016

  • 5

    PC-K6a

    N=276

    273 of 276 (99%)

    259 of 276 (94%)

    8 of 276 (03%)

    2 of 276 (01%)

    4 of 276 (01%)

    Toenails - Onset N = 273

    Birth or less than 1 year 239 of 273 (88%)

    1 to 4 years old 30 of 273 (11%)

    5 to 14 years old 4 of 273 (01%)

    15 years and over 0 of 273 (00%)

    273 of 276 (99%)

    244 of 276 (88%)

    9 of 276 (03%)

    14 of 276 (05%)

    6 of 276 (02%)

    Fingernails - Onset N = 273

    Birth or less than 1 year 242 of 273 (89%)

    1 to 4 years old 27 of 273 (10%)

    5 to 14 years old 3 of 273 (01%)

    15 years and over 1 of 273 (00%)

    243 of 276 (88%)

    233 of 276 (84%)

    5 of 276 (02%)

    6 of 276 (02%)

    Plantar Keratoderma- Onset N = 243

    Birth or less than 1 year 35 of 243 (14%)

    1 to 4 years old 143 of 243 (59%)

    5 to 14 years old 62 of 243 (26%)

    15 years and over 3 of 243 (01%)

    236 of 243 (97%)