Pachyonychia congenita: mutations and clinical presentations

被引:33
|
作者
Munro, CS [1 ]
机构
[1] So Gen Hosp, Dept Dermatol, Glasgow G51 4TF, Lanark, Scotland
关键词
D O I
10.1046/j.1365-2133.2001.04216.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:929 / 930
页数:2
相关论文
共 50 条
  • [31] PACHYONYCHIA CONGENITA SYNDROME
    SCHONFELD, PHIR
    ACTA DERMATO-VENEREOLOGICA, 1980, 60 (01) : 45 - 49
  • [32] Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients
    Forrest, Charlotte E.
    Casey, Genevieve
    Mordaunt, Dylan A.
    Thompson, Elizabeth M.
    Gordon, Lynne
    PEDIATRIC DERMATOLOGY, 2016, 33 (03) : 337 - 342
  • [33] Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita
    Agarwala, Manoj
    Salphale, Pankaj
    Peter, Dincy
    Wilson, Neil J.
    Pulimood, Susanne
    Schwartz, Mary E.
    Smith, Frances J. D.
    INDIAN JOURNAL OF DERMATOLOGY, 2017, 62 (04) : 422 - 426
  • [34] Double Trouble: Homozygous Dominant Mutations and Hair Loss in Pachyonychia Congenita
    Irvine, Alan D.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2012, 132 (07) : 1757 - 1759
  • [35] Functional effects of pachyonychia congenita type I mutations on keratinocyte migration
    Fitchett, CJ
    Van Koningsveld, R
    Rugg, EL
    O'Toole, EA
    BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (01) : 235 - 236
  • [36] Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations
    Gruber, R.
    Wilson, N. J.
    Smith, F. J. D.
    Grabher, D.
    Steinwender, L.
    Fritsch, P. O.
    Schmuth, M.
    BRITISH JOURNAL OF DERMATOLOGY, 2009, 161 (06) : 1391 - 1395
  • [37] Mutations in GJB6 causing phenotype resembling pachyonychia congenita
    Hale, G. I.
    Wilson, N. J.
    Smith, F. J. D.
    Wylie, G.
    Schwartz, M. E.
    Zamiri, M.
    BRITISH JOURNAL OF DERMATOLOGY, 2015, 172 (05) : 1447 - 1449
  • [38] PACHYONYCHIA-CONGENITA-TARDA - A LATE-ONSET FORM OF PACHYONYCHIA-CONGENITA
    PALLER, AS
    MOORE, JA
    SCHER, R
    ARCHIVES OF DERMATOLOGY, 1991, 127 (05) : 701 - 703
  • [39] Pachyonychia congenita type 2
    Scholz, Ina M.
    Helmbold, Peter
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2011, 9 (02): : 144 - 145
  • [40] Pachyonychia congenita - Report of a case
    Sohrweide, AW
    ARCHIVES OF DERMATOLOGY AND SYPHILOLOGY, 1935, 32 (03): : 370 - 376