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Possible Nagashima-Type Palmoplantar Keratosis in Two Siblings

Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK. Since its pathogenesis remains unclear, it is important to clarify the mode of...

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Detalles Bibliográficos
Autores principales: Park, Kio, Kabashima, Kenji, Miyachi, Yoshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617887/
https://www.ncbi.nlm.nih.gov/pubmed/23626539
http://dx.doi.org/10.1159/000350052
Descripción
Sumario:Nagashima-type palmoplantar keratosis (PPK) is an autosomal recessive, transgressive and non-progressive form of PPK. It was once described as a mild form of mal de Meleda, but it is now proposed as a novel entity of PPK. Since its pathogenesis remains unclear, it is important to clarify the mode of inheritance. Here, we present a case of possible Nagashima-type PPK in 2 siblings. The siblings had non-affected parents, suggesting that the mode of inheritance was autosomal recessive. At present, reports on PPK in the English literature are limited, and thus the clinical features of Nagashima-type PPK may not be well appreciated in Western countries. More reports and concise clinical observations with genetic studies are required to establish this new entity of PPK.