Punctate Palmoplantar Keratoderma: A Case Report

Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant pattern of inheritance. It is linked with two...

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Detalles Bibliográficos
Autores principales: Knowles, Ariel, Adams, Maya, Glass, Donald A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Dermatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9924831/
https://www.ncbi.nlm.nih.gov/pubmed/36793812
http://dx.doi.org/10.7759/cureus.33769
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author Knowles, Ariel
Adams, Maya
Glass, Donald A
author_facet Knowles, Ariel
Adams, Maya
Glass, Donald A
author_sort Knowles, Ariel
collection PubMed
description Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant pattern of inheritance. It is linked with two loci on chromosomes 8q24.13-8q24.21 and 15q22-15q24. In type 1 PPPK, also known as Buschke-Fischer-Brauer disease, loss-of-function mutations in either the AAGAB or the COL14A1 genes have been associated with the disorder.( )We report here the clinical and genetic features of a patient with findings most consistent with type 1 PPPK.
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spelling pubmed-99248312023-02-14 Punctate Palmoplantar Keratoderma: A Case Report Knowles, Ariel Adams, Maya Glass, Donald A Cureus Dermatology Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant pattern of inheritance. It is linked with two loci on chromosomes 8q24.13-8q24.21 and 15q22-15q24. In type 1 PPPK, also known as Buschke-Fischer-Brauer disease, loss-of-function mutations in either the AAGAB or the COL14A1 genes have been associated with the disorder.( )We report here the clinical and genetic features of a patient with findings most consistent with type 1 PPPK. Cureus 2023-01-14 /pmc/articles/PMC9924831/ /pubmed/36793812 http://dx.doi.org/10.7759/cureus.33769 Text en Copyright © 2023, Knowles 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
Knowles, Ariel
Adams, Maya
Glass, Donald A
Punctate Palmoplantar Keratoderma: A Case Report
title Punctate Palmoplantar Keratoderma: A Case Report
title_full Punctate Palmoplantar Keratoderma: A Case Report
title_fullStr Punctate Palmoplantar Keratoderma: A Case Report
title_full_unstemmed Punctate Palmoplantar Keratoderma: A Case Report
title_short Punctate Palmoplantar Keratoderma: A Case Report
title_sort punctate palmoplantar keratoderma: a case report
topic Dermatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9924831/
https://www.ncbi.nlm.nih.gov/pubmed/36793812
http://dx.doi.org/10.7759/cureus.33769
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AT glassdonalda punctatepalmoplantarkeratodermaacasereport

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