Discovery - University of Dundee - Online Publications

Library & Learning Centre

Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16

Standard

Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. / Spaunhurst, K. M.; Hogendorf, A. M.; Smith, F. J. D.; Lingala, B.; Schwartz, M. E.; Cywinska-Bernas, A.; Zeman, K. J.; Tang, J. Y.

In: British Journal of Dermatology, Vol. 166, No. 4, 2012, p. 875-878.

Research output: Contribution to journalArticle

Harvard

Spaunhurst, KM, Hogendorf, AM, Smith, FJD, Lingala, B, Schwartz, ME, Cywinska-Bernas, A, Zeman, KJ & Tang, JY 2012, 'Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16' British Journal of Dermatology, vol 166, no. 4, pp. 875-878., 10.1111/j.1365-2133.2011.10745.x

APA

Spaunhurst, K. M., Hogendorf, A. M., Smith, F. J. D., Lingala, B., Schwartz, M. E., Cywinska-Bernas, A., ... Tang, J. Y. (2012). Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. British Journal of Dermatology, 166(4), 875-878. 10.1111/j.1365-2133.2011.10745.x

Vancouver

Spaunhurst KM, Hogendorf AM, Smith FJD, Lingala B, Schwartz ME, Cywinska-Bernas A et al. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. British Journal of Dermatology. 2012;166(4):875-878. Available from: 10.1111/j.1365-2133.2011.10745.x

Author

Spaunhurst, K. M.; Hogendorf, A. M.; Smith, F. J. D.; Lingala, B.; Schwartz, M. E.; Cywinska-Bernas, A.; Zeman, K. J.; Tang, J. Y. / Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.

In: British Journal of Dermatology, Vol. 166, No. 4, 2012, p. 875-878.

Research output: Contribution to journalArticle

Bibtex - Download

@article{ef03ae6088524729af3cf3bb74c50937,
title = "Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16",
author = "Spaunhurst, {K. M.} and Hogendorf, {A. M.} and Smith, {F. J. D.} and B. Lingala and Schwartz, {M. E.} and A. Cywinska-Bernas and Zeman, {K. J.} and Tang, {J. Y.}",
year = "2012",
doi = "10.1111/j.1365-2133.2011.10745.x",
volume = "166",
number = "4",
pages = "875--878",
journal = "British Journal of Dermatology",
issn = "0007-0963",

}

RIS (suitable for import to EndNote) - Download

TY - JOUR

T1 - Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16

A1 - Spaunhurst,K. M.

A1 - Hogendorf,A. M.

A1 - Smith,F. J. D.

A1 - Lingala,B.

A1 - Schwartz,M. E.

A1 - Cywinska-Bernas,A.

A1 - Zeman,K. J.

A1 - Tang,J. Y.

AU - Spaunhurst,K. M.

AU - Hogendorf,A. M.

AU - Smith,F. J. D.

AU - Lingala,B.

AU - Schwartz,M. E.

AU - Cywinska-Bernas,A.

AU - Zeman,K. J.

AU - Tang,J. Y.

PY - 2012

Y1 - 2012

N2 - <p>Background Pachyonychia congenita (PC) is an autosomal dominant, very rare keratin disorder caused by mutations in any of at least four genes (KRT6A, KRT6B, KRT16 or KRT17), which can lead to hypertrophic nail dystrophy and palmoplantar keratoderma, among other manifestations. Classically, patients with mutations in KRT6A and KRT16 have been grouped to the PC-1 subtype (Jadassohn-Lewandowsky type) and KRT6B and KRT17 to PC-2 (Jackson-Lawler type). Objectives To describe clinical heterogeneity among patients with PC who have genetic mutations in KRT6A and KRT16.</p><p>Methods In 2004, the Pachyonychia Congenita Project established the International PC Research Registry (IPCRR) for patients with PC. All patients reporting here underwent genetic testing and responded to a standardized, validated survey about their PC symptoms. We report results from 89 patients with KRT6A mutations and 68 patients with KRT16 mutations.</p><p>Results Patients with PC who have KRT6A and KRT16 mutations display distinct phenotypic differences. Patients with PC-K6a experience earlier onset, more extensive nail disease anal more substantial disease outside palms and soles, as they reported a higher prevalence of oral leucokeratosis (P &lt; 0.001), cysts (P &lt; 0.001) and follicular hyperkeratosis (P &lt; 0.001) compared with their PC-K16 counterparts.</p><p>Conclusion Phenotypic differences between patients with KRT6A and KRT16 mutations support adoption of a new classification system based on the mutant gene (PC-6a, PC-16) rather than the PC I nomenclature.</p>

AB - <p>Background Pachyonychia congenita (PC) is an autosomal dominant, very rare keratin disorder caused by mutations in any of at least four genes (KRT6A, KRT6B, KRT16 or KRT17), which can lead to hypertrophic nail dystrophy and palmoplantar keratoderma, among other manifestations. Classically, patients with mutations in KRT6A and KRT16 have been grouped to the PC-1 subtype (Jadassohn-Lewandowsky type) and KRT6B and KRT17 to PC-2 (Jackson-Lawler type). Objectives To describe clinical heterogeneity among patients with PC who have genetic mutations in KRT6A and KRT16.</p><p>Methods In 2004, the Pachyonychia Congenita Project established the International PC Research Registry (IPCRR) for patients with PC. All patients reporting here underwent genetic testing and responded to a standardized, validated survey about their PC symptoms. We report results from 89 patients with KRT6A mutations and 68 patients with KRT16 mutations.</p><p>Results Patients with PC who have KRT6A and KRT16 mutations display distinct phenotypic differences. Patients with PC-K6a experience earlier onset, more extensive nail disease anal more substantial disease outside palms and soles, as they reported a higher prevalence of oral leucokeratosis (P &lt; 0.001), cysts (P &lt; 0.001) and follicular hyperkeratosis (P &lt; 0.001) compared with their PC-K16 counterparts.</p><p>Conclusion Phenotypic differences between patients with KRT6A and KRT16 mutations support adoption of a new classification system based on the mutant gene (PC-6a, PC-16) rather than the PC I nomenclature.</p>

U2 - 10.1111/j.1365-2133.2011.10745.x

DO - 10.1111/j.1365-2133.2011.10745.x

M1 - Article

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 4

VL - 166

SP - 875

EP - 878

ER -

Documents

Library & Learning Centre

Contact | Accessibility | Policy