Park Kio, Kabashima Kenji, Miyachi Yoshiki
Department of Dermatology, Yamato Takada Municipal Hospital, Nara, Kyoto, Japan.
Case Rep Dermatol. 2013 Mar 4;5(1):58-60. doi: 10.1159/000350052. Print 2013 Jan.
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.
长岛型掌跖角化病(PPK)是一种常染色体隐性、进行性和非进展性的PPK。它曾被描述为轻度型梅勒达病,但现在被认为是PPK的一种新类型。由于其发病机制尚不清楚,明确其遗传方式很重要。在此,我们报告2例可能为长岛型PPK的同胞病例。这对同胞的父母未患病,提示其遗传方式为常染色体隐性。目前,英文文献中关于PPK的报道有限,因此西方国家可能对长岛型PPK的临床特征认识不足。需要更多的报道以及结合基因研究的简明临床观察来确立PPK的这一新类型。