A cross-sectional study of erythromelalgia in patients with pachyonychia congenita-Reference-Cited by-同舟云学术

A cross-sectional study of erythromelalgia in patients with pachyonychia congenita

Published:2024-04-08 Issue:2 Volume:191 Page:300-302
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

McCarthy Rebecca L¹²^ORCID,Schwartz Janice³,Oldham Jaimie²^ORCID,Bodemer Christine⁴,Greco Celine⁵⁶,Hovnanian Alain⁷,Hansen C David³⁸,O’Toole Edel A¹²

Affiliation:

1. Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London , London , UK

2. Department of Dermatology, Royal London Hospital, Barts Health NHS Trust , London , UK

3. Pachyonychia Congenita Project , Salt Lake City, UT , USA

4. Reference Center for Genodermatoses (MAGEC), Department of Dermatology, APHP, Hôpital Necker-Enfants Malades , Paris , France

5. Department of Pain and Palliative Care , Hôpital Necker-Enfants Malades, Paris , France

6. ATIP/Avenir Team ‘Targeted Pain Therapy and Drug Repurposing in Genetic Skin Diseases’, U1163 INSERM, Imagine Institut , Paris , France

7. INSERM UMR 1163, Université Paris Cité, Laboratory of Genetic Skin Diseases, Imagine Institute , Paris , France

8. Department of Dermatology, University of Utah , Salt Lake City, UT , USA

Abstract

Pachyonychia congenita (PC) is a rare genodermatosis characterized by focal palmoplantar keratoderma, severe plantar pain and dystrophic nails. Anecdotally, some patients with PC have erythematous soles and episodic burning plantar pain, indicative of secondary erythromelalgia. This study aimed to identify the prevalence and genetic predictors of erythromelalgia in PC.

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/bjd/advance-article-pdf/doi/10.1093/bjd/ljae143/57954892/ljae143.pdf

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