Entrar/Registro  
HOME SPANISH
 
Gaceta Médica de México
   
MENU

Contents by Year, Volume and Issue

Table of Contents

General Information

Instructions for Authors

Message to Editor

Editorial Board






>Journals >Gaceta Médica de México >Year 2015, Issue 2


Cammarata-Scalisi F, Natsuga K, Toyonaga E, Nishie W, Shimizu H, Stock F, Milano M, Petrosino P, Arenas SA, Medina Y
Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)
Gac Med Mex 2015; 151 (2)

Language: Español
References: 10
Page: 270-272
PDF: 123.91 Kb.


Full text




ABSTRACT

Pachyonychia congenita is a group of autosomal dominant inheritance pattern disorders characterized by hypertrophic nail dystrophy. There are two main clinical subtypes: type 1 and 2. Pachyonychia congenita type 2 is readily differentiated from type 1 by multiple steatocysts and/or presence of natal teeth and can be confirmed by mutations of KRT6B and KRT17. We report the case of a 33-year-old female patient with the missense mutation in KRT17 gene (c.280C›T, p.Arg94Cys) and discuss the several clinical features found with this mutation in the literature.


Key words: Pachyonychia congenita type 2, KRT17, c.280C›T.


REFERENCIAS

  1. Qiang W, Kaibo W, Tienan L, et al. A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2. Int J Dermatol. 2013;52(1):117-9.

  2. Duarte GV, Cunha R. Do you know this syndrome? Pachyonychia congenita. An Bras Dermatol. 2011;86(6):1222-7.

  3. Kamra HT, Gadgil PA, Ovhal AG, Narkhede RR. Steatoscystoma multiplex- a rare genetic disorder: a case report and review of the literature. J Clin Diagn Res. 2013;7(1):166-8.

  4. Zang D, Zhou C, He M, Ma X, Zhang J. A novel mutation (p.Arg94Gly) of keratin 17 in a Chinese family with steatocystoma multiplex. Eur J Dermatol. 2011;21(1):142-4.

  5. Roche-Gamón E, Mahiques-Santos L, Vilata-Correll JJ. Paquioniquia congénita. Piel. 2006;21:72-8.

  6. Pinto J. Paquioniquia congénita. Reporte de un caso. Dermatol Venez. 1967;8:186-90.

  7. Eliason MJ, Leachman SA, Feng BJ, Schwarzt ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012;67(4):680-6.

  8. Covello SP, Smith FJ, Sillevis Smitt JH, et al. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998;139(3):475-80.

  9. Wang X, Shi Y, Ye Y, et al. [Keratin 17 gene mutation in patients with steatocystoma multiplex]. Zhonghua Yi Xue Za Zhi. 2001;81(9):540-3.

  10. Wilson NJ, Pérez ML, Vahlquist A, et al. Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. J Invest Dematol. 2012;132(7):1921-4.






>Journals >Gaceta Médica de México >Year 2015, Issue 2
 

· Journal Index 
· Links 






       
Copyright 2019