Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches

Edel A. O'Toole; David P. Kelsell; Michael J. Caterina; Marianne de Brito; David Hansen; Robyn P. Hickerson; Alain Hovnanian; Roger Kaspar; E. Birgitte Lane; Amy S. Paller; Janice Schwartz; Braham Shroot; Joyce Teng; Matthias Titeux; Pierre A. Coulombe; Eli Sprecher

doi:10.1016/j.jid.2023.10.030

Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches

Edel A. O'Toole, David P. Kelsell, Michael J. Caterina, Marianne de Brito, David Hansen, Robyn P. Hickerson, Alain Hovnanian, Roger Kaspar, E. Birgitte Lane, Amy S. Paller, Janice Schwartz, Braham Shroot, Joyce Teng, Matthias Titeux, Pierre A. Coulombe, Eli Sprecher (Lead / Corresponding author)

Drug Discovery Unit

Research output: Contribution to journal › Review article › peer-review

1 Citation (Scopus)

Abstract

Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative strategies that may broadly impact approaches to the management of other inherited cutaneous and noncutaneous diseases. This article outlines current avenues of research in PC, expected outcomes, and potential hurdles.

Original language	English
Pages (from-to)	748-754
Number of pages	7
Journal	Journal of Investigative Dermatology
Volume	144
Issue number	4
Early online date	15 Dec 2023
DOIs	https://doi.org/10.1016/j.jid.2023.10.030
Publication status	Published - Apr 2024

Keywords

Drug repurposing
Genodermatosis
Keratoderma
Nails
Pachyonychia congenita

ASJC Scopus subject areas

Dermatology
Molecular Biology
Biochemistry
Cell Biology

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O'Toole, E. A., Kelsell, D. P., Caterina, M. J., de Brito, M., Hansen, D., Hickerson, R. P., Hovnanian, A., Kaspar, R., Lane, E. B., Paller, A. S., Schwartz, J., Shroot, B., Teng, J., Titeux, M., Coulombe, P. A., & Sprecher, E. (2024). Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches. Journal of Investigative Dermatology, 144(4), 748-754. https://doi.org/10.1016/j.jid.2023.10.030

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title = "Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches",

abstract = "Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative strategies that may broadly impact approaches to the management of other inherited cutaneous and noncutaneous diseases. This article outlines current avenues of research in PC, expected outcomes, and potential hurdles.",

keywords = "Drug repurposing, Genodermatosis, Keratoderma, Nails, Pachyonychia congenita",

author = "O'Toole, {Edel A.} and Kelsell, {David P.} and Caterina, {Michael J.} and {de Brito}, Marianne and David Hansen and Hickerson, {Robyn P.} and Alain Hovnanian and Roger Kaspar and Lane, {E. Birgitte} and Paller, {Amy S.} and Janice Schwartz and Braham Shroot and Joyce Teng and Matthias Titeux and Coulombe, {Pierre A.} and Eli Sprecher",

note = "Copyright: {\textcopyright} 2023 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.",

year = "2024",

month = apr,

doi = "10.1016/j.jid.2023.10.030",

language = "English",

volume = "144",

pages = "748--754",

journal = "Journal of Investigative Dermatology",

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O'Toole, EA, Kelsell, DP, Caterina, MJ, de Brito, M, Hansen, D, Hickerson, RP, Hovnanian, A, Kaspar, R, Lane, EB, Paller, AS, Schwartz, J, Shroot, B, Teng, J, Titeux, M, Coulombe, PA & Sprecher, E 2024, 'Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches', Journal of Investigative Dermatology, vol. 144, no. 4, pp. 748-754. https://doi.org/10.1016/j.jid.2023.10.030

TY - JOUR

T1 - Pachyonychia Congenita

T2 - A Research Agenda Leading to New Therapeutic Approaches

AU - O'Toole, Edel A.

AU - Kelsell, David P.

AU - Caterina, Michael J.

AU - de Brito, Marianne

AU - Hansen, David

AU - Hickerson, Robyn P.

AU - Hovnanian, Alain

AU - Kaspar, Roger

AU - Lane, E. Birgitte

AU - Paller, Amy S.

AU - Schwartz, Janice

AU - Shroot, Braham

AU - Teng, Joyce

AU - Titeux, Matthias

AU - Coulombe, Pierre A.

AU - Sprecher, Eli

PY - 2024/4

Y1 - 2024/4

N2 - Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative strategies that may broadly impact approaches to the management of other inherited cutaneous and noncutaneous diseases. This article outlines current avenues of research in PC, expected outcomes, and potential hurdles.

AB - Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative strategies that may broadly impact approaches to the management of other inherited cutaneous and noncutaneous diseases. This article outlines current avenues of research in PC, expected outcomes, and potential hurdles.

KW - Drug repurposing

KW - Genodermatosis

KW - Keratoderma

KW - Nails

KW - Pachyonychia congenita

U2 - 10.1016/j.jid.2023.10.030

DO - 10.1016/j.jid.2023.10.030

M3 - Review article

C2 - 38099888

SN - 0022-202X

VL - 144

SP - 748

EP - 754

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 4

ER -

Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches

Abstract

Keywords

ASJC Scopus subject areas

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