Literature DB >> 10203734

The palmoplantar keratodermas: much more than palms and soles.

D P Kelsell1, H P Stevens.   

Abstract

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.

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Year:  1999        PMID: 10203734     DOI: 10.1016/s1357-4310(98)01428-2

Source DB:  PubMed          Journal:  Mol Med Today        ISSN: 1357-4310


  14 in total

Review 1.  Connexin mutations in skin disease and hearing loss.

Authors:  D P Kelsell; W L Di; M J Houseman
Journal:  Am J Hum Genet       Date:  2001-01-25       Impact factor: 11.025

2.  Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.

Authors:  A Martinez-Mir; A Zlotogorski; D Londono; D Gordon; A Grunn; E Uribe; L Horev; I M Ruiz; N O Davalos; O Alayan; J Liu; T C Gilliam; J C Salas-Alanis; A M Christiano
Journal:  J Med Genet       Date:  2003-12       Impact factor: 6.318

3.  Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.

Authors:  Jae Yeol Lee; Sung-Il In; Hyon J Kim; Seon-Yong Jeong; Yun Hoon Choung; You Chan Kim
Journal:  J Korean Med Sci       Date:  2010-09-17       Impact factor: 2.153

4.  A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.

Authors:  Yuqing He; Kang Zeng; Xibao Zhang; Qiaolin Chen; Jiang Wu; Hong Li; Yong Zhou; Gustavo Glusman; Jared Roach; Alton Etheridge; Shizhen Qing; Qiang Tian; Inyoul Lee; Xin Tian; Xiaoning Wang; Zhihua Wu; Leroy Hood; Yuanlin Ding; Kai Wang
Journal:  J Invest Dermatol       Date:  2014-10-06       Impact factor: 8.551

5.  Cardiac autoantibodies from patients affected by a new variant of endemic pemphigus foliaceus in Colombia, South America.

Authors:  Ana Maria Abreu-Velez; Michael S Howard; Zhe Jiao; Weiqing Gao; Hong Yi; Hans E Grossniklaus; Mauricio Duque-Ramírez; Samuel C Dudley
Journal:  J Clin Immunol       Date:  2011-07-28       Impact factor: 8.317

6.  Autoimmune thyroiditis presenting as palmoplantar keratoderma.

Authors:  Sara Lestre; Eva Lozano; Cláudia Meireles; Ana Barata Feio
Journal:  Case Rep Med       Date:  2010-03-14

7.  Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

Authors:  Kathrin A Giehl; Gertrud N Eckstein; Sandra M Pasternack; Silke Praetzel-Wunder; Thomas Ruzicka; Peter Lichtner; Kerstin Seidl; Mike Rogers; Elisabeth Graf; Lutz Langbein; Markus Braun-Falco; Regina C Betz; Tim M Strom
Journal:  Am J Hum Genet       Date:  2012-09-20       Impact factor: 11.025

8.  A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea.

Authors:  Young Jae Oh; Ha Eun Lee; Joo Yeon Ko; Young Suck Ro; Hee Joon Yu
Journal:  Ann Dermatol       Date:  2011-08-06       Impact factor: 1.444

9.  GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Authors:  Sandra Iossa; Elio Marciano; Annamaria Franzé
Journal:  Curr Genomics       Date:  2011-11       Impact factor: 2.236

10.  Palmoplantar keratoderma is associated with esophagus squamous cell cancer in Van region of Turkey: a case control study.

Authors:  Mahmut Ilhan; Tugrul Erbaydar; Necmettin Akdeniz; Sevket Arslan
Journal:  BMC Cancer       Date:  2005-07-28       Impact factor: 4.430

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