The palmoplantar keratodermas: much more than palms and soles

被引:50
作者
Kelsell, DP [1 ]
Stevens, HP [1 ]
机构
[1] St Bartholomews & Royal London Hosp, Ctr Cutaneous Biol, London E1 2AT, England
来源
MOLECULAR MEDICINE TODAY | 1999年 / 5卷 / 03期
关键词
D O I
10.1016/S1357-4310(98)01428-2
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The inherited palmoplantar keratodermas (PPKs) are a diverse and often clinically confusing branch of the genetic skin diseases. As the name suggests, the lesions of PPK primarily affect the palms and soles of the feet, although a number of the PPKs are also associated with a genetic predisposition to other conditions, including cancer, hearing loss and heart failure, The mapping and identification of genes that underlie the PPKs reveal new insights into the biological interactions of the structural components of the palmoplantar epidermis and further our understanding of epidermal disease. More significantly, by genetically characterizing the PPKs, genes that have a role in life-threatening disorders might also be identified.
引用
收藏
页码:107 / 113
页数:7
相关论文
共 50 条
[31]   A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome [J].
Maestrini, E ;
Monaco, AP ;
McGrath, JA ;
IshidaYamamoto, A ;
Camisa, C ;
Hovnanian, A ;
Weeks, DE ;
Lathrop, M ;
Uitto, J ;
Christiano, AM .
NATURE GENETICS, 1996, 13 (01) :70-77
[32]   Mutations in the plakophilin 1 gene result in ectodermal dysplasia skin fragility syndrome [J].
McGrath, JA ;
McMillan, JR ;
Shemanko, CS ;
Runswick, SK ;
Leight, IM ;
Lane, EB ;
Garrod, DR ;
Eady, RAJ .
NATURE GENETICS, 1997, 17 (02) :240-244
[33]   KERATIN-16 AND KERATIN-17 MUTATIONS CAUSE PACHYONYCHIA-CONGENITA [J].
MCLEAN, WHI ;
RUGG, EL ;
LUNNY, DP ;
MORLEY, SM ;
LANE, EB ;
SWENSSON, O ;
DOPPINGHEPENSTAL, PJC ;
GRIFFITHS, WAD ;
EADY, RAJ ;
HIGGINS, C ;
NAVSARIA, HA ;
LEIGH, IM ;
STRACHAN, T ;
KUNKELER, L ;
MUNRO, CS .
NATURE GENETICS, 1995, 9 (03) :273-278
[34]   POINT MUTATIONS IN THE TYROSINE AMINOTRANSFERASE GENE IN TYROSINEMIA TYPE-II [J].
NATT, E ;
KIDA, K ;
ODIEVRE, M ;
DIROCCO, M ;
SCHERER, G .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (19) :9297-9301
[35]  
PERIS K, 1995, BRIT J DERMATOL, V132, P617
[36]   KERATIN-9 GENE-MUTATIONS IN EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (EPPK) [J].
REIS, A ;
HENNIES, HC ;
LANGBEIN, L ;
DIGWEED, M ;
MISCHKE, D ;
DRECHSLER, M ;
SCHROCK, E ;
ROYERPOKORA, B ;
FRANKE, WW ;
SPERLING, K ;
KUSTER, W .
NATURE GENETICS, 1994, 6 (02) :174-179
[37]   Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis [J].
Richard, G ;
Smith, LE ;
Bailey, RA ;
Itin, P ;
Hohl, D ;
Epstein, EH ;
DiGiovanna, JJ ;
Compton, JG ;
Bale, SJ .
NATURE GENETICS, 1998, 20 (04) :366-369
[38]   TYLOSIS ESOPHAGEAL CANCER MAPPED [J].
RISK, JM ;
FIELD, EA ;
FIELD, JK ;
WHITTAKER, J ;
FRYER, A ;
ELLIS, A ;
SHAW, JM ;
FRIEDMANN, PS ;
BISHOP, DT ;
BODMER, J ;
LEIGH, IM .
NATURE GENETICS, 1994, 8 (04) :319-321
[39]   MUTATIONS IN THE ROD DOMAINS OF KERATIN-1 AND KERATIN-10 IN EPIDERMOLYTIC HYPERKERATOSIS [J].
ROTHNAGEL, JA ;
DOMINEY, AM ;
DEMPSEY, LD ;
LONGLEY, MA ;
GREENHALGH, DA ;
GAGNE, TA ;
HUBER, M ;
FRENK, E ;
HOHL, D ;
ROOP, DR .
SCIENCE, 1992, 257 (5073) :1128-1130
[40]  
Sevior KB, 1998, AM J MED GENET, V75, P179, DOI 10.1002/(SICI)1096-8628(19980113)75:2<179::AID-AJMG11>3.3.CO