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Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy

Aquagenic wrinkling of the palms (AWP), also known as aquagenic palmoplantar keratoderma, is an uncommon dermatosis characterized by transient translucent whitish papules, edema, and hyper-wrinkling of the palms and soles shortly after water immersion. Approximately up to 80% of cases reported are a...

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Autores principales: Torres-Laboy, Paola M, Melendez-Montañez, Jesus M, De Jesús-Rojas, Wilfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121091/
https://www.ncbi.nlm.nih.gov/pubmed/34007735
http://dx.doi.org/10.7759/cureus.14425
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author Torres-Laboy, Paola M
Melendez-Montañez, Jesus M
De Jesús-Rojas, Wilfredo
author_facet Torres-Laboy, Paola M
Melendez-Montañez, Jesus M
De Jesús-Rojas, Wilfredo
author_sort Torres-Laboy, Paola M
collection PubMed
description Aquagenic wrinkling of the palms (AWP), also known as aquagenic palmoplantar keratoderma, is an uncommon dermatosis characterized by transient translucent whitish papules, edema, and hyper-wrinkling of the palms and soles shortly after water immersion. Approximately up to 80% of cases reported are associated with cystic fibrosis (CF) patients and up to 25% with CF carriers. We present the case of a 16-year-old male who complains of new-onset symmetrical edematous wrinkling on his palms associated with brief water exposure. After evaluation and genetic testing, the patient was diagnosed with CF and AWP. While there are numerous theories regarding the pathogenesis of AWP, no consensus has been reached regarding its etiology or relationship with CF. However, given the high prevalence of AWP associated with the genetic disease, physicians should have a high index of suspicion of CF or cystic fibrosis transmembrane regulator (CFTR)-related disease in pediatric patients with this presentation. The presence of AWP as part of the physical examination may help recognize challenging CF cases with uncommon genetic variants. Prompt recognition of CF disease leads to timely initiation of CFTR-modulating therapy, improving the patient’s health outcomes and quality of life. In this case, we also present the patient’s response to CFTR-modulating therapy and compare with baseline status.
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spelling pubmed-81210912021-05-17 Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy Torres-Laboy, Paola M Melendez-Montañez, Jesus M De Jesús-Rojas, Wilfredo Cureus Dermatology Aquagenic wrinkling of the palms (AWP), also known as aquagenic palmoplantar keratoderma, is an uncommon dermatosis characterized by transient translucent whitish papules, edema, and hyper-wrinkling of the palms and soles shortly after water immersion. Approximately up to 80% of cases reported are associated with cystic fibrosis (CF) patients and up to 25% with CF carriers. We present the case of a 16-year-old male who complains of new-onset symmetrical edematous wrinkling on his palms associated with brief water exposure. After evaluation and genetic testing, the patient was diagnosed with CF and AWP. While there are numerous theories regarding the pathogenesis of AWP, no consensus has been reached regarding its etiology or relationship with CF. However, given the high prevalence of AWP associated with the genetic disease, physicians should have a high index of suspicion of CF or cystic fibrosis transmembrane regulator (CFTR)-related disease in pediatric patients with this presentation. The presence of AWP as part of the physical examination may help recognize challenging CF cases with uncommon genetic variants. Prompt recognition of CF disease leads to timely initiation of CFTR-modulating therapy, improving the patient’s health outcomes and quality of life. In this case, we also present the patient’s response to CFTR-modulating therapy and compare with baseline status. Cureus 2021-04-11 /pmc/articles/PMC8121091/ /pubmed/34007735 http://dx.doi.org/10.7759/cureus.14425 Text en Copyright © 2021, Torres-Laboy et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Dermatology
Torres-Laboy, Paola M
Melendez-Montañez, Jesus M
De Jesús-Rojas, Wilfredo
Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy
title Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy
title_full Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy
title_fullStr Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy
title_full_unstemmed Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy
title_short Aquagenic Wrinkling of the Palm: A Rare Diagnostic Clue of Cystic Fibrosis and the Response to CFTR-Modulating Therapy
title_sort aquagenic wrinkling of the palm: a rare diagnostic clue of cystic fibrosis and the response to cftr-modulating therapy
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121091/
https://www.ncbi.nlm.nih.gov/pubmed/34007735
http://dx.doi.org/10.7759/cureus.14425
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